People with premature aging syndrome. The phenomenon of abnormal aging - unsolved progeria (3 photos)
Progeria (Hutchinson-Gilford syndrome) is a rare disease caused by a mutation in the gene responsible for protein synthesis. With this pathology, skin changes appear and internal organs that are caused by premature aging.
Childhood progeria, the symptoms of which appear from the age of 2 years, causes premature aging: patients live on average up to 13 years and die from atherosclerosis and related diseases -,. Despite the genetic nature of the disease, it is not inherited.
The adult form - Werner's syndrome - is a genetic pathology, inherited, begins after 18 years, is characterized by early aging, the development of diseases of the elderly: , . Leads to death.
Causes
Hutchinson-Gilford syndrome is a consequence of a mutation, a change in the structure of a gene that occurs spontaneously or under the influence of external factors. The carrier of human heredity is the DNA molecule. A gene consists of amino acids connected to each other in a strict sequence. Changes in the composition of the polypeptide chain lead to genetic diseases.
Progeria occurs structural changes the gene responsible for the synthesis of the lamin protein. The amino acid cytisine is replaced by thymine. Pathological lamin is called progerin, the accumulation of which leads to premature cell death. Molecular changes lead to processes similar to natural aging.
Adult progeria is also the result of a gene mutation. The synthesis of the enzyme responsible for the work of DNA is disrupted. The resulting damage to the genetic apparatus causes premature aging of somatic cells.
Symptoms
Children's progeria symptoms are as follows:
- small stature;
- lack of subcutaneous tissue;
- an enlarged vein under the skin;
- disproportionately large skull;
- lack of hair on the head;
- poor physical development;
- big eyes;
- teeth defects;
- "keeled chest";
- high voice.
Despite the lag in physical development, children with Hutchinson-Gilford syndrome are intellectually developed, do not lag behind their peers in mental development. Children's progeria is accompanied by the progression of atherosclerosis from the age of 5 and the increase in cardiac pathology - there are noises during auscultation, symptoms of myocardial hypertrophy. Cardiac diseases- the most common cause of death.
Cases of progeria in adults, that is, Werner's syndrome, are characterized by the following conditions:
- early gray hair and baldness;
- the appearance of senile wrinkles at a young age;
- pigmentation, dry skin;
- fibrous seals in the subcutaneous tissue;
- the voice becomes muffled.
Progeria is the cause of infertility in men and women. On late stages diseases appear on the legs. Because of muscular atrophy limbs become thinner, joint contractures develop,. The “horseman posture” is characteristic due to half-bent arms. The hands are deformed, the nails turn yellow, take the form of "watch glasses".
X-rays show osteoporosis and lime deposits in the periarticular tissues, ligamentous apparatus joints. Progeria in adults is often accompanied by benign tumors different localization, endocrine diseases, . In 8-12% there are malignant tumors. Therefore, progeria symptoms are often blurred.
Treatment
Hutchinson-Gilford syndrome is a fatal disease that always ends in death. There is no etiotropic treatment that eliminates the cause of the pathology. Death is caused by atherosclerosis, in which inner wall vessels, cholesterol is deposited, narrowing the lumen of the arteries, blood flow is disturbed. Develops myocardial infarction. atherosclerotic plaques cause formation, which can break away from the vessel wall and cause disturbances cerebral circulation, stroke.
Treatment of progeria is aimed at reducing the manifestations of atherosclerosis, provides for a diet with low content animal fats, rich in protein foods: lean meat, fish, cottage cheese. Medical therapy involves the use of statins - drugs that lower blood cholesterol levels:
- "Atorvastatin Pfizer";
- "Lipofen";
- Rosuvastatin Sandoz;
- "Simvastatin";
- "Epadol-neo".
Drugs in this group reduce the concentration of cholesterol, affect the content of lipids in the blood.
With progeria, constant monitoring of the condition is necessary of cardio-vascular system. To prevent and treat heart diseases, drugs are used that reduce blood clotting ability, which have antiplatelet properties:
- "Cardiomagnyl";
- "Warfarin Orion";
- "Heparin";
- "Ipaton".
Growth hormone, physiotherapy procedures are used to restore joint function. Milk teeth are removed, as progeria in children leads to a violation of their growth.
Drugs have appeared that prolong the life of patients with progeria, and with them the hope that with the development genetic research, it will be possible to cure a disease that was considered fatal.
Intensive study of genetic pathology in Russia and around the world began in the 21st century. Researchers have found that progerin accumulates in small amounts in healthy body, and its content in cells increases with age. Hutchinson-Gilford syndrome and natural aging have common causes. With the development of medical science, it will become possible not only to cure serious disease but also to fight old age.
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Diseases with similar symptoms:
Hyperplasia of the adrenal cortex pathological condition, in which there is a rapid multiplication of the tissues that make up these glands. As a result, the body increases in size and its functioning is impaired. The disease is diagnosed both in adult men and women, and in young children. It should be noted that such a form of pathology as congenital hyperplasia adrenal cortex. In any case, the disease is quite dangerous, therefore, when its first symptoms appear, you should immediately contact medical institution for a comprehensive examination and appointment effective method therapy.
Progeria in translation from the ancient Greek language means - the old man. It is a rare genetic disease in which irreversible changes occur in the body, leading to premature aging. Children's progeria, called Hutchinson-Gilford syndrome, and adult progeria, known as Werner's syndrome, are distinguished.
Mutations in the LMNA gene result in the syndrome of childhood progeria. It is this gene that produces the lamin protein, which contributes to the retention of the cell nucleus. Scientists believe that the defective protein lamin leads to instability of cell nuclei, which contributes to early aging.
At birth, children with this syndrome appear to be physically and externally healthy. The disease begins to manifest itself at the age of 1.5-2 years. This is expressed by loss of hair and weight, protrusion of veins is observed, wrinkled skin is formed. In addition, negative processes are accompanied by complications more common in older people: stroke, cardiovascular disease, osteoporosis, joint stiffness, generalized atherosclerosis.
With this disease, there is one interesting point. Despite the different ethnicity, children with this syndrome have an outward resemblance to each other. The most common cause of progeria from which children die is atherosclerosis, and the age to which they live is 13 years. True, the age range ranges from 8 to 21 years.
Adult progeria, according to long-term observations, begins at adolescence The range ranges from 15 to 20 years. Naturally, the disease also affects the life expectancy of patients, which is shortened to 40-50 years. Death occurs due to stroke, myocardial infarction, malignant tumors. The reason for the development of the disease is still unknown and to this day occupies the minds of scientists around the world.
You should know that progeria is a genetic disease, not hereditary. It turns out that the parents are not carriers of this disease. Scientists suggest that a sporadic mutation occurs either in the sperm or in the egg even before the moment of conception. It is also worth noting that if parents have a child with SHGP, then the probability of having a second child of the same kind is small - 1 in 4-8 million. There are some progeria syndromes that are passed down through the generations, but this is not the case with classic SHGP.
Before the disease, both sexes (female and male) and all exclusively races are equal. The disease is quite rare and occurs worldwide in only one in 8 million children. Known on this moment 42 cases of similar disease.
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What is premature aging and how to avoid it
Added: 2011-04-16
What is premature aging and how to avoid it
Modern scientists distinguish two types of aging - physiological (implies the natural onset and gradual development of characteristic senile changes) and pathological, that is, premature aging of the body.
Premature aging is defined as any partial or total acceleration in the rate of aging that causes a person to “get ahead” average level aging age group. Wherein age-related changes come earlier than healthy people the appropriate age. In other words, with premature aging biological age a person is ahead of his calendar (passport).
Premature aging reduces the quality of human life, leads to the development of "diseases of old age" at a young age, and shortens life expectancy.
Causes premature aging is a series adverse factors, such as stress, smoking, insolation, failures of natural biorhythms, as well as malnutrition, which naturally lead to premature wear of the morphological structures of tissues.
Related to this external changes are similar to the manifestations of true aging, although they are not accompanied by its characteristic irreversible damage. Nevertheless, the factors described are the cause of the so-called. age-related diseases that accelerate biological aging - atherosclerosis, cataracts, arthritis, senile dementia, dysfunctions of the gastrointestinal tract, as well as oncological pathologies.
With premature aging of the body functional state cardiovascular system deteriorates to a greater extent than with physiological (“normal”) aging. Progressive sclerosis of cerebral vessels in its symptoms is in many ways reminiscent of senile decrepitude in such signs as changes in posture, skin, hair, etc. The manifestations of cerebral sclerosis and aging are intertwined so closely that the former is sometimes even considered as possible cause premature aging of the body.
Signs of premature aging of the body are also seen in some other chronic diseases like tuberculosis, peptic ulcer, diabetes adults, mental trauma and other. They also appear in immune deficiency. special role play mental and emotional stress, malnutrition, ionizing radiation.
Some gerontologists also consider the so-called syndrome to be a model of accelerated aging. chronic fatigue, a widespread condition among the working population. The treatment of this syndrome is usually complex: normalization of the work and rest regime, diet, vitamin therapy, water procedures, physiotherapy, immunocorrection and more.
To internal factors premature aging of the body include: autointoxication, exposure free radicals, autoimmune processes, as well as violations of the regulatory function of the brain. Autointoxication results from sedentary image life, malnutrition, and also due to constant stress to which modern man is so often exposed.
It is believed that women age earlier. This is reflected in the preference usually given to marriages where the groom is older than the bride, but not vice versa. However, two phenomena that do not quite coincide with each other are mixed here. By biological processes According to gerontologists, women age more slowly and live longer by 6-8 years. For example, similar changes in the tissues of old women and men occur in the latter 8 years earlier, that is, the biological aging of women occurs later. The great vitality of women is maintained throughout life, however, outwardly, women usually look older than their peers - men.
A great help in maintaining the adaptive forces of the body can be provided by regular intake of biologically active additives (restorative means made from natural plant extracts, provide multilateral beneficial effect on the body based on natural medicinal properties plants from which they are composed) and cytamines (peptide molecules of regulatory action that can accurately correct functional disorders and prevent the development of pathological processes in the body), normalization of the body's bioenergetics.
In order to adequately increase defensive forces body, optimize the physiological activity of organs and systems, necessary biologically effective nutritional factors, able to compensate for the weakening of functions and prevent the occurrence of disorders that lead to premature aging.
Get all the necessary food components with a "regular" diet modern man difficult. With the change in the processing of products, the content of nutrients in them has decreased. Therefore, the population of megacities faces a dilemma - either try to get all the nutrients from food and have excess weight, or get the prescribed 2000 kcal / day. by adjusting the diet with the help of dietary supplements.
To sources many times greater than food products in terms of the content of nutrients and essential minor components, include dietary supplements based on medicinal plants, seafood, biotechnological synthesis products and other bioactive ingredients, which must be enriched in the nutrition of an older person.
A number of nutritional factors are very important for maintaining structural integrity. connective tissue, which is the backbone of all organs and tissues of the body. From how it functions and is secured nutrients depends not only on appearance skin but also our health in general.
After all external signs aging (such as the appearance of wrinkles, loss of skin elasticity, hair loss) are a mirror image of the health of internal organs, which is also to a large extent determined by the condition of the connective tissue and its ability to retain water.
The most important factor supporting the renewal processes in the body is the balance of sex hormones.
It is known that estrogens are involved in the metabolism of collagen and increase the level of hyaluronic acid in the intercellular (including transdermal) fluid. With age, there is a physiological extinction of the functions of the gonads, leading to a change hormonal background which immediately affects the condition of the connective tissue. An external manifestation of such changes is hypoestrogenic skin aging in pre- and postmenopausal women.
However, given the fact that the adipose tissue also produces estrogen similar condition can also occur in women young age- as a result of strict and prolonged diets, leading to sharp decline subcutaneous fat deposits.
As the ovarian function fades in women, a physiological increase in subcutaneous fat occurs, which makes it more and more difficult to maintain generally accepted weight standards with “age”.
For example, phytoestrogens are components of plants and some fungi that exhibit estrogenic properties. Phytoestrogens are initially 100-1000 times less active than endogenous hormones, but the concentration of the former in the body can be 5000 times greater than the latter. This explains the pronounced hormone-like effect of phytoestrogens.
The maximum amount of phytoestrogens contains such medicinal plants such as cimicifuga, red clover, licorice, soybeans, alfalfa, burdock, etc.
Phytohormones increase skin moisture, as a result of which they help smooth out fine wrinkles, slow down the growth of hair on the face and body, stimulating their growth on the head, and have anti-inflammatory and oncoprotective properties.
Water for human body- the second most important substance after oxygen, because. All physiological processes in the body occur in aquatic environments and with the participation of water. Interstitial fluid due to the presence of glucosaminoglycans (glucosamine, chondroitin, hyaluronic acid) is a gel that surrounds and nourishes the cells.
The tissue gel may contain more or less structurally bound water. Accordingly, the more this gel is saturated with water, the higher the tissue turgor and vice versa. Therefore, the main outward manifestation water loss during aging - flabby skin that has lost turgor. But the same processes occur in tissues internal environments organism, which leads to dysfunctions of organs and their systems. And today there is no doubt that water is the main indicator of aging.
The problem, however, is that water is a product that is poorly absorbed in the body.
In order for water to be able to enter tissues, certain of its physico-chemical parameters are important (surface tension, redox potential, pH, mineralization, etc.). If the parameters drinking water In terms of their characteristics, they approach those of the liquid media of the body, water is biologically active and accessible to cells.
In the diet for the prevention of premature aging and diseases characteristic of the elderly, a complex minerals.
Amino acids are the main parts and structural compounds of a protein molecule. Some amino acids can be synthesized in the body. These amino acids are called non-essential. Amino acids that the body cannot synthesize are called essential.
All amino acids are very important in nutrition, since they are the plastic material for building tissue structures, and also have a regulatory effect on various functions organism.
The main rule in the fight against the process of premature aging is a radical change in lifestyle. If you don't want to age prematurely, you only need to eat healthy food spend as much time as possible on fresh air, perform every day physical exercise and give up all bad habits.
Be healthy!
For the first time, the syndrome of premature aging was discussed 100 years ago. And no wonder: such cases occur once in 4-8 million babies. Progeria (from the Greek pro - earlier, gerontos - old man) - or Hudchinson Gilford's syndrome. This disease is also called childhood old age. 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. 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. 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. 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 the loss of subcutaneous fat, all vessels are visible. The voice is usually high. Mental development age appropriate. And all these sick children are strikingly similar to each other.
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. genetic mutation in the protein Lamin A causes accelerated aging of the body. 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.
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 has practically no chance to live even to 25, and this is probably the saddest thing.
Adult progeria (Werner's syndrome) is a hereditary or familial disease. It is manifested by premature aging, starting at the age of 20-30 years, accompanied by early graying, baldness and arteriosclerosis. 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. On lower limbs 90% of patients have trophic ulcers, hyperkeratosis and nail dystrophy.
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". From endocrine disorders hypogenitalism is noted, late appearance or lack of secondary sexual characteristics, dysfunction of the upper and lower parathyroid glands(violation calcium metabolism), thyroid gland(exophthalmos) and pituitary (moon face, high voice). 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) is a pathological condition characterized by a complex of changes in the skin and internal organs caused by premature aging of the body. 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 epidermis and dermis, 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: big head, frontal tubercles protrude above a small pointed ("bird") face with a beak-shaped nose, lower jaw underdeveloped.
There is also muscle atrophy dystrophic processes in teeth, hair and nails; 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.
Pro personal life I can’t even turn my tongue to ask Lena ... 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 banal circular lift facial skin 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 monitored.
The girl - by the way, a certified engineer-architect - did not despair and went to Moscow. Melnikova became interested in an expensive metropolitan clinic 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 of 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. second, and main stage- 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 ischemic disease hearts. 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 upper lip did not move, saliva flowed, speech became illegible.
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.
Most famous case progeria, described in the Russian press - the story of Alvydas Gudelauskas, who suddenly began to age already as a 20-year-old guy. 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 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. In 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.
IN 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. The locals called their children 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
