Rapid aging. Impact of free radicals. Adverse external factors

Aging of the whole organism is a natural and inevitable process programmed by nature, which is one of the main problems of biology and medical science in general.

Although changes in appearance are natural, physiological, but the timing of their appearance depends on many causal factors - genetic, hereditary, age. The latter are determined by the influence of the aging organism on all organs and tissues, including skin. What are the causes and how to prevent premature skin aging.

Causes of premature skin aging

To external manifestations pathological wilt include:

thinning and, a decrease in the thickness of the subcutaneous fat layer;
dryness, itching and peeling of the epithelium of the stratum corneum;
discoloration of the skin of the face;
decreased skin turgor and gravitational tissue ptosis;
early appearance of wrinkles, folds on the face;
vascular changes in the form of expansion of superficial vessels (), the appearance of vascular "nets" and "asterisks";
premature aging of the skin of the hands;
early and.

These phenomena begin to appear from the age of 25, and in the presence of adverse factors, sometimes even earlier. With increasing age, they increase more and more. Pathological, or premature, aging is accompanied by changes internal organs and tissues and is characterized by a higher, compared with people of the same age category, the rate of appearance of changes in the appearance of a person. In these cases we are talking about advancing, exceeding biological age, in comparison with passport data.

Inextricable withering of the skin is associated with changes throughout the body. Accordingly, the factors that cause early skin aging are basically the same as those that accelerate the appearance of age-related changes in the body. Thus, the rate of development of age-related changes in the skin is constantly or periodically affected by numerous unfavorable, so-called "everyday" factors:

Internal, or endogenous.
External, or exogenous.
A combination of internal and external factors.

Endogenous negative factors

They are mainly associated with a weakening of general immunity and a violation of the blood levels of sex hormones, in particular estrogens, in women. In addition, for the development of premature aging, the inadequate functioning of the nervous, endocrine, microcirculatory systems, organs of the excretory and respiratory systems. All of them provide the skin with the ability to maintain biochemical processes, temperature and barrier functions, and local immunity at the required level.

Therefore, the most frequent illnesses leading to early aging skin is pathological endocrine system, especially diabetes mellitus, reduced function thyroid gland, hypothalamic-pituitary syndrome, diseases of the glands internal secretion genitals, ischemic disease heart and cardiovascular insufficiency, chronic pulmonary pathology, decrease in the degree of general immune protection, which also leads to a decrease in local immunity, autoimmune diseases connective tissue.

Of no small importance are also the pathology of the liver and biliary system, diseases of the digestive tract and urinary system, violations metabolic processes in the body. Features of premature wilting in men are associated, in addition to the above, mainly with a decrease (according to various reasons) blood levels of male sex hormones, since they have a stimulating effect on the sebaceous and sweat glands.

It is quite natural that the full supply of the skin with oxygen, vitamins, microelements, hormones, etc., of course, depends on the content of these components in the body, but one should not underestimate their supply to the cells through the blood and lymph microcirculation system, as well as the role of these mechanisms in removal of decay products and processes of cellular regeneration.

Exogenous factors

These include mainly:

Unfavorable ecological situation (from 40 to 60%), in which the ambient air contains significant concentrations harmful to the body chemical compounds;
Overexposure ultraviolet irradiation on unprotected skin sunscreens, as well as the neglect of the use of "after-sun" creams that help neutralize the effects of solar radiation;
Insufficient or, conversely, excessive moisture environment;
Irrational nutrition, overweight body and lack of physical activity;
Frequent stressful conditions and prolonged psycho-emotional stress;
Abuse alcoholic drinks, as well as smoking, in which chronic nicotine intoxication, spasmodic small peripheral vessels, leads to disturbances in blood microcirculation and to a deterioration in the delivery of oxygen to tissues and nutrients. In addition, some chemical compounds contained in tobacco destroy proteins, which include metal atoms (metal proteins) involved in the synthesis of skin and elastin, resulting in a decrease in skin elasticity with intense formation of wrinkles;
Dyes and preservatives food products and components of some cosmetics, as well as products household chemicals contributing to allergic and inflammatory reactions;
The level of social status, including biological and psychological needs and social opportunities to meet them.

Basic Mechanisms

The mechanisms of pathological aging are specific physiological and biochemical processes through which the impact on the human body of negative endogenous and exogenous factors. Among the various mechanisms at present, the main importance is given to the so-called free radical reactions, as a result of which the formation of free radicals and aggressively reactive oxygen species.

Free radicals are "fragments" of molecules with missing electrons. Their reactive activity is due to the ability to attach electrons to themselves from other molecules. Such a biochemical reaction is necessary to ensure the flow of normal metabolic processes in the body. Under normal physiological conditions, the amount of free radical molecules is strictly controlled by the body.

However, under the influence negative factors, especially chemical compounds of the environment and ultraviolet rays, an excess amount and accumulation of free radicals are formed. They lead to the destruction of the cell membrane, cellular lipids, proteins, mitochondria and DNA. The consequence of this influence is premature cell death, the predominance of degenerative processes over cellular regeneration, accelerated degradation and disruption of the synthesis of collagen and elastin proteins. All these phenomena are united by the name "oxidative stress".

Collagen and elastin fibers play a particularly important role in the condition of the skin, giving it a state of strength, firmness and elasticity. With age, there is a gradual decrease in their volume and quantity. But under the influence of accumulated free radicals, what is especially important, significant changes in their structure and physico-chemical properties occur, due to which skin firmness and elasticity decrease, wrinkles and folds form, and tissues of the face and other parts of the body appear.

Another significant mechanism is a decrease in the saturation of the skin with water molecules and the destruction of its epidermal layer as a barrier. The result is an increased vulnerability of the skin to the influence of bacterial, physical and chemical factors.

So, summing up the section, it is necessary to highlight the main mechanisms and manifestations of aging. The first ones include:

Deceleration of cellular renewal.
Quantitative reduction and structural and qualitative violation of collagen and elastin proteins.
Disorder of microcirculation in tissues and increased permeability of the vascular wall, leading to skin dehydration and edema of the intercellular tissue.
Destruction of the epidermal barrier.
Accumulation of metabolic products.

How can early destructive processes be prevented?

Despite a certain "autonomy" of the skin, their successful functioning cannot but depend on the state of the whole organism or its individual systems, and the impact only cosmetics and drugs cannot slow down the processes of early skin aging.

Because the modern medicine does not have enough ways to influence the genetic and age factors of aging, then the main efforts of her and cosmetology are aimed at eliminating or limiting the influence of "everyday factors". Identification of the causes makes it possible to prevent aging or at least slow down the pace of its development. For these purposes, it is necessary:

prevention of stressful situations and psycho-emotional disorders and increasing resistance to their effects;
rational nutrition, the correct mode of work and rest, the normalization of sleep;
quitting smoking and alcohol abuse;
treatment of diseases or correction of the functioning of internal organs with drugs and other means;
correction of the general immune state and local immunity;
increasing the possibilities of regulating the body by adaptive mechanisms (improving metabolism, normalizing hormonal background, acceleration of the elimination of toxins and toxins from the body, etc.);
proper and regular skin care with anti-aging cosmetics.

Of great importance in the fight against oxidative stress has become an increased use and external use of natural antioxidants that can block free radical oxidative reactions, as well as their use in cosmetology and medicine in the form of drugs.

How to avoid premature skin aging?

Aging is not a disease, but a state of the body, which is due to heredity and age characteristics. At present, medicine and modern cosmetology have very little potential to influence the genetic and age-related causes of aging.

At the same time, premature wilting is the object of their attention. Therefore, their main tasks are to eliminate the "everyday" causal factors and early manifestations of wilting, as well as to correct application methods of anti-aging therapy. This can be largely influenced by the person himself, who is informed about the causes of early withering of the skin.

Aging of the human body is a complex biological process that reflects only one side of the development of the body.

Experts distinguish two types of aging: natural or physiological and premature, which, under the influence of living conditions and various diseases, develops at an accelerated pace.

No matter how sad it is, but the second type, that is, premature aging, is the most common form of decrepitude in our society.

With this type age-related changes occur much earlier than with the physiological, and the biological age prevails over the calendar.

Causes of premature aging

Signs of premature aging often appear by the age of 40, reducing the quality of human life. Among the causes of premature aging, external and internal factors can be distinguished.

Adverse external factors

These include frequent stress, bad habits, failure of the natural biorhythm, malnutrition lead to premature wear of organs and tissues. They are often the cause of diseases that accelerate the biological aging of the body.

People experiencing the above adverse factors are more likely to suffer from arthritis, cataracts, atherosclerosis, dementia, diseases gastrointestinal tract and oncological diseases.

Diseases

There are a number of diseases that rapidly cause signs of premature aging of the body. If a person is sick with cerebral vascular sclerosis, peptic ulcer, tuberculosis, diabetes mellitus, immune deficiency, signs of senile decrepitude immediately appear in the body - posture, hair, skin change.

Emotional and mental stress

Harm to health stressful situation are the cause of premature aging. The most dangerous is excessive stress or when it is constant.

The presence of depressing thoughts, the inability to discharge emotionally, to pronounce a disturbing situation or simply switch, fixation on problems - adversely affect the mental and physical health of a person.

They call:

muscle tension in the neck and shoulders,
headache,
insomnia
indigestion,
anxiety
mood swings,
negative thoughts
and feeling tired.

A syndrome chronic fatigue experts consider it a model of accelerated aging of the body.

Constant lack of sleep

Sleep disturbance or insufficient sleep is detrimental to overall health. Each person has his own need for rest, in order to have a good rest and restore your strength, 7-8 hours of sleep is enough.

If a person does not get enough sleep constantly and for a long time, there may be chronic sleep deprivation which leads to violation physiological functions body:

irritability appears, sense of humor is lost,
change physiological properties brain, which leads to memory loss and inability to concentrate,
every day a person experiences headaches and dizziness,
response is reduced.

And all these signs together create difficulties in solving problems.

Sometimes a person deliberately deprives himself of sleep, explaining this by saying that there is not enough time for creativity or business, mistakenly believing that it is a pity to waste your time on sleep.

Thus, he provokes breakdowns in his health, the restoration of which will spend even more time.

It is also important that it is impossible to sleep off in advance, the body is not adapted to this, and as a result, you can get weakness, lethargy, and a headache.

Similarly, excessive sleep does not bring rest, but fatigue and a decline in strength and energy. Healthy body.

Unbalanced diet

Our cells, tissues and organs need the energy that the body receives from food. Rational nutrition contributes to the normal renewal of cells, their rejuvenation.

AT healthy body within a year, liver cells are completely renewed, and young skin cells replace old ones 12 times during this period. In order for cells to rejuvenate, they need a balanced diet.

Often, in human food, the calorie content of food intake exceeds energy costs. Unused energy is stored in the body in the form of fat, and obesity causes a number of health problems and causes aging of the human body.

It must be remembered that the body needs amino acids, vitamins, minerals, trace elements, lecithin, Omega-3, all that is found in natural foods, vegetables, fruits and herbs. Eating right, a person feels full of strength and energy.

Bad habits

Smoking, drinking and drugs are the main bad habits destroying health and life. So smoking causes a powerful blow to the respiratory and cardiovascular system.

Often smoking provokes an increase in pressure, an increase in cholesterol in the blood, which leads to heart disease and stroke.

Excessive alcohol consumption destroys blood cells, which can provoke the occurrence of many diseases, such as pancreatitis, diabetes, gastritis, atherosclerosis and coronary heart disease.

Alcohol destroys the liver, disrupts metabolism, blood sugar regulation functions. No less serious concern is caused by beer alcoholism, which also destroys not only the organs and systems of the body, but also the human psyche.

And drugs lead to a complete defeat of the body. Drugs are the path to the degradation of society, statistics show that Russia is already in 3rd place in the world in terms of drug use after Afghanistan and Iran.

More than 2.5 million people in our country are addicted to drugs, destroying their health. The heart, blood vessels, brain, digestion, respiration suffer from drugs, the human psyche is disturbed, reproductive capacity and immunity. But the most important thing is that drugs significantly shorten a person's life!

Unfavorable internal factors

The internal causes of premature aging of the body include exposure to free radicals, autointoxication, autoimmune processes, and impaired brain function.

Autointoxication

In the course of normal human life, in his body are produced toxic substances which are excreted by the body itself. But if excretory system does not cope with its functions, toxic products are again absorbed into the blood, and there is a gradual poisoning of the body with poisons or autointoxication.

This occurs with diseases such as uremia, anuria, constipation and intestinal obstruction, with metabolic disorders associated with diabetes mellitus, thyrotoxic goiter, and even with toxicosis of pregnancy. In this case, a person feels unwell, weakness, headache and dizziness, nausea or vomiting.

Autointoxication is eliminated by activating the excretory function of the body, eliminating the causes that caused it, using medications(diuretic and diaphoretic), blood transfusion…. In renal failure, more radical methods are used.

Impact of free radicals

Free radicals are the main cause of premature aging of the body, causing atherosclerosis, cancer, heart attack and stroke, diseases of the skin, immune and nervous system.

The human body has a system for fighting radicals, but antioxidant enzymes do not always cope with them.

The body needs additional protection against free radicals in the form of antioxidants, which act as traps for them. Such traps are plant bioflavonoids, which prevent premature human aging.

It is believed that bioflavonoids and phytohormones contain plants that have a dark pigment color, such as: blueberries, blackberries, blueberries, beets, purple cabbage, dark grapes, prunes, beans, beets, black radish ...

How to avoid premature aging

To avoid premature aging, it is necessary to increase defensive forces body, optimize the activity of organs and systems, compensating for weakened functions and preventing the occurrence of new disorders in the body.

First of all, strive to eliminate the causes leading to premature aging, which were mentioned above.

Review your diet and try to include as much as possible natural products nutrition. Unfortunately, get everything from food necessary components for health and life is very difficult, so you can adjust your diet with the help of dietary supplements.

The medical industry and network companies produce dietary supplements based on marine products, medicinal plants with the addition of bioactive ingredients - peptide molecules of regulatory action that increase the body's bioenergetics.

The balance of sex hormones is a necessary and most important factor in maintaining the processes of renewal and rejuvenation in the human body, especially in adulthood. The lack of estrogen, which is involved in the synthesis of collagen, invariably affects the appearance of wrinkles, loss of skin elasticity and its withering, hair loss.

A similar skin aging condition is sometimes seen in young women chasing fad diets. Indeed, in youth, estrogens are produced not only by the ovaries, but also by adipose tissue.

Impossible without water physiological processes. All internal processes in the body proceed with the participation of water, in aquatic environments.

All cells are surrounded by a nutrient gel. containing structurally bound water. And the more water in this gel, the higher the turgor of tissues and cells.

The loss of water by the body is immediately visible on the skin, which loses its turgor and becomes flabby and sagging. The same processes occur with internal organs, which often causes their dysfunction.

Therefore, no one doubts that water is the main indicator of body aging. But not all water is equally absorbed by the body. Water with certain physical and chemical parameters is considered useful for the body. They take into account:

redox potential,
surface tension,
mineralization,
pH and other parameters.

Structured or melted water is most suitable for these parameters.

lifestyle, food, Fresh air, physical labor and physical exercises, charging for the brain, its constant training, all these are important components of longevity, therefore, the ability to avoid premature aging depends on each of us.

This is extremely rare genetic disease, accelerating the aging process by about 8-10 times. Simply put, a child ages 10-15 years in one year. Babies with progeria look normal for 6 to 12 months after birth. After that, they develop symptoms characteristic of old age: wrinkled skin, baldness, brittle bones and atherosclerosis. An eight-year-old child looks 80 years old - with dry wrinkled skin, a bald head ...

Among the features of such patients are dwarf growth, low weight (usually not exceeding 15-20 kg), excessively thin skin, poor joint mobility, underdeveloped chin, small face in comparison with the size of the head, which gives the person as if a bird's features. Due to loss subcutaneous fat all vessels are visible. The voice is usually high. Mental development corresponds to age. And all these sick children are strikingly similar to each other.

Progeria also causes other problems: in children, for example, a second row of teeth appears in the mouth, and the skin becomes very pale, almost transparent.

These children usually die at the age of 13 or 14 simply "of old age". More precisely, from those diseases that are characteristic of old age. For example, they can die from a banal heart attack. And, as a rule, after several heart attacks and strokes against the background of progressive atherosclerosis, cataracts, glaucoma, total loss teeth, etc. Only a few live to 20 years or longer. In the people this disease is called "dog old age".

Now in the world about 60 cases of people with progeria are known. Of these, 14 people live in the United States, 5 - in Russia, the rest in Europe.

Until recently, doctors could not determine the cause of the disease. And only recently, American researchers discovered that the cause of "childish old age" is a single mutation. Progeria is caused by a mutated form of the LMNA gene. According to the director of the National Institute for Genome Research Francis Collins (Francis Collins), who led the study, this disease is not hereditary. A point mutation - when only one nucleotide is changed in a DNA molecule - occurs anew in each patient. A genetic mutation in the protein lamin A causes accelerated aging organism. And the young man - with his big protruding ears, bulging eyes and swollen veins on his bald skull - turns into a hundred and sixteen year old man.

Recently, some of these patients have a illusory hope for recovery. American scientists have begun clinical trial remedies for Hudchinson-Gilford syndrome. If it is possible to bring the trials to a successful conclusion, the victory over progeria will be the victory of people who are doing everything to save their children from imminent death.

Researchers in their work came across a drug - an inhibitor of farnisyltransferase, it turned out to be able to block the production of this protein and, according to at least, stop development pathological processes, and even a few of them reversed.

However, there is a problem in identifying such patients. They are few and scattered all over the world. The initiative group took on a huge job of finding them. Patients live in different countries You need to get their consent, the consent of their parents. We should finally bring them, if such consent is obtained, to Boston (trials are taking place at the Children's Hospital of Boston (Children's Hospital Boston). And the life of such children is short. It is believed that the maximum age to which a patient with progeria can live is 27 years But even this is a rare case.

Hussein Khan and his family are unique in their kind: this is the only case known to science when more than one family member suffers from progeria. And thanks to this family, scientists were able to make a real breakthrough in understanding the nature of the disease. Hana's husband and wife are cousins to each other. None of them have progeria, and neither do their two children, 14-year-old Sangita and 2-year-old Gulavsa. This disease affects their 19-year-old daughter Rehena and two sons: 7-year-old Ali Hussein and 17-year-old Ikramul. None of them have any chance of surviving to 25.

Adult progeria manifests itself in the following symptoms. Slow developing juvenile cataract. The skin of the feet, legs, to a lesser extent of the hands and forearms, as well as the face gradually becomes thinner, the subcutaneous base and muscles in these areas atrophy. Trophic ulcers, hyperkeratosis and nail dystrophy occur in 90% of patients on the lower extremities. Atrophy of the skin of the face ends with the formation of a beak-shaped nose ("bird's nose"), narrowing of the oral fissure and sharpening of the chin, resembling a "scleroderma mask". Of the endocrine disorders, hypogenitalism, late appearance or absence of secondary sexual characteristics, dysfunction of the upper and lower parathyroid glands (impaired calcium metabolism), thyroid gland (exophthalmos) and pituitary gland (lunar face, high voice) are noted. Often there is osteoporosis. Changes in the fingers resemble those in sclerodactyly. Most patients with Werner's syndrome die before the age of 40. Trials are currently underway to treat the disease with stem cells.

Progeria(Greek progērōs prematurely aged) — pathological condition, characterized by a complex of changes in the skin, internal organs, caused by premature aging organism. The main forms are children's progeria (Hutchinson-Gilford syndrome) and adult progeria (Werner's syndrome).

Childhood progeria is very rare. Etiology and pathogenesis are not known. In most cases, it occurs sporadically, in several families it has been registered with siblings, incl. from consanguineous marriages, which indicates the possibility of an autosomal recessive type of inheritance.

In the skin cells of patients, violations of DNA repair and fibroblast cloning were found, as well as atrophic changes in the epidermis and dermis, and the disappearance of subcutaneous tissue. Although children's P. may be congenital, in most patients clinical signs usually appear in the 2nd or 3rd year of life.

The growth of the child sharply slows down, atrophic changes in the dermis, subcutaneous tissue, especially on the face and limbs, are noted. The skin becomes thinner, becomes dry, wrinkled, there may be scleroderma-like lesions on the body, areas of hyperpigmentation. Veins show through the thinned skin. Appearance patient: a large head, frontal tubercles protrude over a small pointed ("bird") face with a beak-shaped nose, the lower jaw is underdeveloped.

Muscle atrophy, dystrophic processes in teeth, hair and nails are also observed; there are changes in the osteoarticular apparatus, myocardium, hypoplasia of the genital organs, impaired fat metabolism, clouding of the lens, atherosclerosis.

Lena ages five years in a year

Yesterday, in a Moscow clinic, doctors performed the first operation on a patient suffering from premature aging syndrome.

At first, my earlobes began to sag in a strange way. Then I noticed amazingly deep wrinkles between the eyebrows, - says the 23-year-old girl.

At the first glance at Lena Melnikova, you even begin to doubt. Well, how is this a cunning bored 40 - 50-year-old lady who desired wide fame and plastic surgery from the best surgeons?! Unfortunately, this has already happened.

This is what she looks like now at 23.

Asking Lena about her personal life doesn’t even turn her tongue ... Although the girl smiles courageously:

Everything is fine.

Lena has almost no chance. Diagnosis: "premature aging syndrome" ("progeria"). Medical luminaries around the world claim that people live on average only 13 years from the moment of the disease. And no one knows how to restore youth or at least calm old age ...

Terrible symptoms began to appear in Lena five years ago. First, the face aged, and then the skin of the whole body. Elena then studied at the 1st year of the Mari Polytechnic Institute.

You know, how insulting it was... Guys come up to meet my girlfriend and treat me emphatically politely, they take me for my mother. Almost asked permission to meet with the "daughter".

After graduating from the Mari Polytechnic University, the girl decided on plastic surgery. But the banal circular tightening of the skin of the face did not help. Only left scars on the neck and temples. The mysterious process of aging of the organism continued. Local doctors could advise Elena only one thing - to take vitamins and be constantly observed.

The girl - by the way, a certified engineer-architect - did not despair and went to Moscow. Melnikova became interested in the expensive metropolitan clinic of plastic surgery "Beauty Plaza". Its experts decided to help the provincial woman in trouble. And completely free.

We decided to try. If it is generally recognized that nothing can be done, then you should at least try, - said the leading surgeon of the clinic, Dr. medical sciences Professor Alexander TEPLYASHIN. - Although it is unsafe for Elena to operate, because the disease could also affect the state of internal organs.

She is so young! She needs to live normally, communicate with young people. First, we will make a face, and then we will begin to fight the disease at the genetic level, - Professor Teplyashin is determined.

“I really believe the professor,” Elena Melnikova persistently convinces us. It looks like she's also convincing herself.

Elena arrived at the clinic yesterday morning. She was being prepared for surgery. Allocated a separate room, where she waited. So far, Professor Teplyashin is also preparing for his very difficult work. A quarter of an hour before the operation, Elena is calm.

I'm not afraid of anything, - she repeats and repeats everything. And in the end it still sobs. Some time ago, the girl was seriously thinking about ending her life.

The time has come for the operation. Lena gets up and, looking straight ahead, walks with a deliberately firm gait into the bowels of the clinic. Suddenly, she pauses for a minute and turns clearly more to herself than to others: “I was very afraid of this first operation, and now I have a second one. And I have no choice. My last hope". - And resolutely steps to the anesthesiologist.

The doctors of the clinic allowed the photographer into the holy of holies - the operating room aesthetic surgery. The first stage of the operation is the breast. The doctor cuts the skin on the chest and prepares a special bio-implant. The composition is one of the secrets of the clinic. The main thing - no alien silicone. Like dough, Professor Teplyashin vigorously kneads the implant so that the pliable material almost seeps between his fingers. And finally puts in the body. The second and main stage is the face. And the first difficulty here is to eliminate the scars and imperfections of the previous plastic surgery. The sight is not for the faint of heart. But everything seems to be going well...

After Lena Melnikova undergoes a special rehabilitation course at the clinic, geneticists and cell biologists will develop an individual biotechnological treatment program especially for her, which should end with an injection of stem cells. These cells are supposed to expel old age from a young body...

Once upon a time, a beautiful and smart 18-year-old student Melnikova had many fans. But when the disease began to develop, there was only one who really loves. The girl does not name him, but she is sure that he is very worried and is waiting for her in Yoshkar-Ola. In the meantime, in Moscow, the unemployed engineer-architect Melnikova lives with her brother.

For the first time, the syndrome of premature aging was discussed 100 years ago. And not surprisingly, such cases occur once in 4-8 million babies. Progeria (from the Greek pro - earlier, gerontos - old man) is an extremely rare genetic disease that accelerates the aging process by about 8-10 times.

Simply put, a child ages 10-15 years in one year. An eight-year-old looks 80 years old - with dry, wrinkled skin, a bald head ... These children usually die at the age of 13-14 after several heart attacks and strokes against the background of progressive atherosclerosis, cataracts, glaucoma, complete loss of teeth, etc. And only a few live to 20 years or longer.

Now only 42 cases of people with progeria are known in the world ... Of these, 14 people live in the United States, 5 in Russia, the rest in Europe ...

Among the features of such patients are dwarf growth, low weight (usually not exceeding 15-20 kg), excessively thin skin, poor joint mobility, an underdeveloped chin, a small face in comparison with the size of the head, which gives the person as if bird features. Due to the loss of subcutaneous fat, all vessels are visible. The voice is usually high. Mental development corresponds to age. And all these sick children are strikingly similar to each other.

12 year old Seth Cook looks like an 80 year old man. He has no hair, but he has a full range of diseases that affect older people. Therefore, every day the boy takes aspirin and other drugs that thin the blood. With a height of 3 feet (a little over a meter), Seth weighs 25 pounds (11.3 kg).

Oury Barnett was born on April 16, 1996. Already at the age of five, poor Ouri began to have coronary heart disease. Attacks followed one after another. The kid often ended up in the hospital, but he had to be treated with the means that are usually prescribed for older people.

Ouri looked like a stroke survivor: his legs were weak and he began to stumble like a decrepit old man. His eyes faded, his upper lip did not move, saliva flowed, his speech became unintelligible.

Ouri's mother did a lot to convey to people her experience and her observations of the unfortunate child. From the age of three, the baby was taken to the shooting of television programs and scientific conferences. The only condition that the mother set for sensational journalists was that they should not write that the baby was dying of progeria.

The most famous case of progeria described in the Russian press is the story of Alvydas Gudelauskas, who suddenly began to age at the age of 20. Literally in a matter of months, Alvidas turned into a 60-year-old man before our eyes. And only after plastic surgery did he begin to look like a mature man. In the photo on the left - this is how he looked before the operation, on the right - after. Now Alvydas is only 32 years old.

Until recently, doctors could not determine the cause of the disease. And only recently, American researchers discovered that only a single mutation is the cause of "childish old age" or Hutchinson-Gilford progeria.

According to the director of the National Institute for Genome Research Francis Collins (Francis Collins), who led the study, this disease is not hereditary. A point mutation - when only one nucleotide is changed in a DNA molecule - occurs anew in each patient. People suffering from progeria die mainly from precisely those ailments that are characteristic of old age. A mutated form of the LMNA gene has now been found to cause progeria.

Seven year old man and his family

Khan children. Rehena, Ali Hussein and Ikramul suffer from rare disease. He is only seven years old, and he is already going bald. This is the most noticeable of the many symptoms of the disease that Ali Hussein Khan suffers from. He is still a boy, but he is already in middle age. This progeria is extremely rare disease, due to which Ali's body ages prematurely.

Neither he nor his sister and brother - 19-year-old Rehena and 17-year-old Ikramul - have practically no chance of living to 25.

This disease greatly accelerates the development of children. However, it also causes other problems: in their mouth, for example, a second row of teeth appears, and the skin becomes very pale, almost transparent.

Such children get sick with what ordinary people suffer in old age. Last year, their sister Ravena, who also had progreria, died of pneumonia. She was 16.

As soon as Ali Hussein begins to speak, it becomes clear that he is seized with childlike enthusiasm and preoccupied with hopes that are not characteristic of an adult.

“I would like to be an actor, drive cars and planes, be an action hero,” he says. “And then I would like to become a doctor, because doctors check me all the time, and I would like to check myself, and therefore I wanted someday I would like to be a doctor."

Hana is unique in this sense: this is the only case known to science when more than one family member suffers from progreria. And thanks to this family, scientists were able to make a real breakthrough in understanding the nature of the disease.

Scientists led by pediatrician Chandan Chattopadhyaya observed the Khans for two years and concluded that the disease is hereditary and recessive. This means that her gene can be in both parents. AT this case Hana's husband and wife are cousins to each other. Neither of them has progreria, nor do their other two children, 14-year-old Sangita and two-year-old Gulavsa.

AT last years the family is looked after by a charity from Calcutta. The head of the Bisul Khan family says that life has treated him and his wife Rajia cruelly. Both of them are natives of one of the villages in the Indian state of Bihar. locals their children were called aliens, and as a result they had to grow up in complete isolation.

“When we lived there, in Bihar, every evening we sat in a room, unable to sleep, because one of the children was tormented by something, then the other,” recalls Khan. “And we thought, me and my wife, we sat down side by side and thought: how can we continue to live? We even thought about putting an end to all this in one fell swoop ... "

“But now the children live,” says the father. “They are energetic, they are happy, they live normal life as much as possible, of course."

For the past two years, Khanami has been looked after by Sekhar Chattopadhyay, head of the S-bi Devi Charitable House in Calcutta. Now they live in this city, although their exact address is kept secret.

The charitable organization helped my father find a job as a security guard, but his salary is low, so they are also helped financially. But no less important than money are those normal human contacts that children have acquired with the help of a charitable organization.

"We support them and we've become friends," says Chattopadhyay, tossing Ali Hussein on his lap.

Thanks to his support, the Khans say they now live much more full life than before. They smile when they talk about their interests and hobbies.

Rehena says she loves Indian films, especially passionate love songs. When I ask if she sings herself, she says that she is shy, but it is still clear that she wants to demonstrate her abilities, and, having received approval, she agrees to try.

"I love loving you and when I don't see you, I can't wait until we meet again," she sings in Hindi.

According to various sources

Progeria is a rare genetic disease, first described by Gilford, which is manifested by premature aging of the body associated with its underdevelopment. Progeria is classified into childhood, called the Hutchinson (Hutchinson)-Gilford syndrome, and adult - Werner's syndrome.

With this disease, there is a strong lag in growth since childhood, a change in the structure of the skin, cachexia, the absence of secondary sexual characteristics and hair, underdevelopment of internal organs and the appearance of an old person. Wherein mental condition the patient is age-appropriate, the epiphyseal cartilage plate closes early, and the body has childish proportions.

Progeria is an incurable disease and is the cause of serious atherosclerosis, which as a result develops strokes and various diseases. And in the end this genetic pathology leads to lethal outcome, i.e. she is fatal. As a rule, a child can live, on average, thirteen years, although there are cases with a life expectancy of more than twenty years.

Hutchinson-Gilford childhood progeria

This disease is extremely rare in the ratio of 1:4,000,000 newborns in the Netherlands and 1:8,000,000 in the United States. Moreover, the disease affects more boys than girls (1.2:1).

Two forms of Hutchinson-Gilford progeria are considered: classical and non-classical.

Currently, more than a hundred cases of childhood progeria have been described. Moreover, this disease mainly affects children of the white race. Hutchinson-Gilford progeria is characterized by a polymorphic lesion. Children with this syndrome appear quite normal at birth. But by a year or two, there is a serious lag in growth. Typically, such children are too small in stature and even lower in body weight in accordance with its length.

Children with progeria are characterized by complete baldness not only of the scalp, but also by the absence of eyelashes and eyebrows from an early age. The skin looks weak and wrinkled as a result of the absolute loss of subcutaneous fat, the skin is present. The head is characterized by disproportionate craniofacial bones, which resemble the face of a bird with a hooked nose, abnormally small lower jaw bulging eyeballs and protruding ears. It is these features, a large bald head and a small jaw, that give the appearance of a child the appearance of an old man.

Other clinical manifestations progerias include: irregular and late teething, thin and high voice, pear-shaped rib cage and reduced collarbones. The limbs are usually thin, and the modified ulnar and knee joints give the sick child a "rider's pose".

In children up to a year, sclero-like seals, congenital or acquired, are noted on the buttocks, thighs and lower abdomen. Children with progeria are characterized by hyperpigmentation of the skin, which only intensifies with age, and hypoplastic nails, in which they become yellow, thin and convex, resembling watch glasses. However, starting from the age of five, a common form of atherosclerosis develops with a large lesion of the aorta and arteries, especially mesenteric and coronary. And much later, heart murmurs and hypertrophy of the heart appear in the left ventricle. The early occurrence of atherosclerosis in children becomes the reason for their short life. But the main cause of death is considered.

With progeria, cases of ischemic stroke are known. Such children in mental development are absolutely no different from healthy children, sometimes even ahead of them. Children with this diagnosis live on average for about fourteen years.

In children's progeria of a non-classical form, the body length lags slightly behind the mass, the hair remains for a long time, and lipodystrophy progresses much more slowly; recessive inheritance is possible.

baby progeria photo

Progeria causes

Still exact reasons the occurrence of progeria has not been elucidated. The presumed etiology of the development of this disease is a metabolic disorder in the connective tissue, as a result of the growth of fibroblasts by cell division and increased collagen formation with reduced synthesis of glycosaminoglycans. The slow formation of fibroblasts is explained by disturbances in the intercellular substance.

Mutations in the LMNA gene, which is responsible for encoding lamin A, are considered to be the causes of childhood progeria syndrome. This is a protein that makes up one of the layers of the nucleus of the cell membrane.

In many cases, progeria manifests itself sporadically, and in some families it occurs in siblings, especially in consanguineous marriages, and this indicates a possible autosomal recessive mode of inheritance. When examining the skin of patients, cells were found in which the ability to repair breaks and damage in DNA was impaired, as well as to reproduce genetically homogeneous fibroblasts, change the atrophic dermis and epidermis, which contribute to the disappearance of subcutaneous tissue.

Adult progeria is characterized by autosomal recessive inheritance with a defective ATP-dependent helicase or WRN gene. There is an assumption in the linking chain of disorders between DNA repair and connective tissue turnover.

It has also been found that Hutchinson-Gilford progeria has disorders in carrier cells that cannot fully get rid of DNA cross-links caused by chemical agents. When diagnosing these cells with such a syndrome, it was found that they are not able to fully undergo the process of division.

In 1971, Olovnikov suggested that telomeres shortened in the process of cell formation. And in 1992, this was already proven in patients with adult progeria syndrome. An assay that links the Hayflick limit, telomere length, and telomerase enzyme activity allows for the combination natural process aging with the formation of clinical symptoms of Hutchinson-Gilford childhood progeria. Since this form of progeria is extremely rare, one can only hypothesize about the type of inheritance that has similarities with Cockayne's syndrome and is manifested by individual features of premature aging.

There are also statements about the Hutchinson-Gilford progeria belonging to a mutation, autosomal dominant, which arose de novo, i.e. no inheritance. It became an indirect confirmation of the syndrome, which was based on measurements of telomeres in carriers of the disease, their parents and donors.

Progeria symptoms

The clinical picture of childhood progeria is characterized by characteristic premature atherosclerosis, myocardial fibrosis, disorders cerebral circulation, increased lipoproteins and cholesterol levels, prothrombin time in tests, early heart attacks, skeletal anomalies. In this case, there are pronounced disproportions of the face and skull, underdevelopment of the jaw and teeth, and displacement of the hips. Long bones with normal cortical structure and progressive peripheral demineralization undergo recurrent pathological fractures.

Joints are characterized by tight mobility, especially knee joints with possible contractures of the hip, ankle, elbow and wrist joints. At x-ray studies demineralization is found near joints with osteoporosis, varus and hallux valgus lower extremities. Tumors and thickening of collagen fibers are also very common.

Werner syndrome or adult progeria appears between 14 and 18 years of age and is characterized by stunting, universal graying with parallel progression.

As a rule, progeria syndrome develops after twenty years and is characterized by early baldness, thinning of the skin on the face and limbs, and characteristic pallor. Under too stretched skin, superficial blood vessels, and the subcutaneous adipose tissue and the muscles located under it completely atrophy, so the limbs look disproportionately thin.

Then the skin over the protrusions of the bones gradually becomes thicker and ulcerates. After thirty years, patients with progeria develop cataracts in both eyes, the voice becomes weak, high and hoarse, the skin is noticeably affected. This manifests itself in the form of sclerocermo-like changes in the limbs and face, ulcers on the legs, calluses on the feet and telangiectasia. Such patients, as a rule, are short in stature, with a moon-shaped face, a beak-like nose, like a bird, a narrowed mouth opening and a sharply protruding chin, a full body and thin limbs.

In patients with progeria, the functions of sweat and sebaceous glands. On the protrusions of the bones, general hyperpigmentation is formed, the shape of the nail plates changes. And after various injuries, trophic ulcers appear on the legs and feet. In addition to thinning, patients have significant changes in muscles and bones, calcification, of a generalized nature, osteoarthritis with erosions. Such patients are limited in the movements of the fingers and flexion contracture. Progeria patients are characterized by bone deformity, as in rheumatoid e, pain in the extremities, flat feet and osteomyelitis.

During X-ray examinations, bone osteoporosis, heterotopic calcifications of the skin and subcutaneous tissue, ligaments and tendons are detected. Also, cataract slowly progresses, develops, disrupting the activity of cardio-vascular system. Most patients have decreased intelligence.

After forty years to progeria against the background diabetes, dysfunctions parathyroid glands and other diseases, almost 10% of patients develop tumor pathologies in the form of osteogenic sarcoma, astrocytoma, thyroid adenocarcinoma, and skin.

Death is usually the result cardiovascular pathologies and malignant tumors.

In the histological analysis of the progeria syndrome, atrophy of the skin appendages is established, where the eccrine glands are preserved; the dermis at the same time has a thickening, fibers from collagen are hyalinized, and nerve fibers are destroyed.

In patients, muscles completely atrophy, there is no subcutaneous fat.

The disease is diagnosed on the basis of the clinical symptoms of progeria. If the diagnosis is in doubt, the ability of fibroblasts to multiply in culture is determined (reduced rate for Werner's syndrome). For differential diagnosis progerias take into account Hutchinson-Gilford, Rothmund-Thomson syndromes and systemic scleroderma.

Progeria treatment

To date, there is no specific treatment for progeria, it has not yet been developed. Basically, therapy is symptomatic in nature with the prevention of complications after atherosclerosis and in the treatment of trophic ulcers,.

For an anabolic effect, STH is prescribed, which in some patients increases body weight and length. Whole therapeutic process is carried out by a number of specialists, such as an endocrinologist, internist, cardiologist, oncologist and others, depending on the prevailing symptoms.

But in 2006, US researchers noted progression in the treatment of progeria as incurable disease. They introduced a farnesyl transferase inhibitor into the culture of disturbed fibroblasts, which had previously been tested on cancer patients. And this process returned the aging cells to their normal form. Such a drug has been well tolerated, so now there is hope that in the future it will be possible to use it to prevent progeria in childhood.

The effectiveness of Lonafarnib (a farnesyl transferase inhibitor) is to increase the amount of fat under the skin, in body weight, bone mineralization, which will ultimately reduce fractures.

However, while this disease is characterized unfavorable forecasts. On average, patients with progeria live to the age of thirteen, dying from hemorrhages and heart attacks.