Progeria which means premature aging syndrome. Progeria, or premature aging syndrome

What is progeria, what are its signs and consequences? How is the disease diagnosed and what treatment is available today?

Hutchinson-Gilford Progeria syndrome (HGS) is a rare, fatal genetic disorder characterized by sudden, accelerated aging in children and affects one in 8 million children worldwide. The name of the syndrome comes from the Greek word and means “premature aging.” Although there are various shapes progeria, classic type Hutchinson-Gilford syndrome Progeria is named after the doctors who first described the disease, Dr. Jonathan Hutchinson in 1886, and Dr. Hastings Guilford in 1897.

Today it is known that CSGP is caused by a mutation in the LMNA (Lamin) gene. The LMNA gene produces the protein lamin, which holds the cell nucleus together. Researchers believe that a defective lamin protein makes cell nuclei unstable. And it is this instability that starts the process premature aging.

Children with this syndrome appear healthy at birth, the first physical signs illnesses can occur at the age of one and a half to two years. This cessation of growth, loss of weight and hair, protruding veins, wrinkled skin - all this is accompanied by complications more typical for older people - joint stiffness, generalized atherosclerosis, osteoporosis, cardiovascular diseases, stroke. Children with this condition have a remarkably similar appearance despite their different ethnic backgrounds. Most often, children with progeria die from (heart disease) at an average age of thirteen years (range from about 8 to 21 years).

There is also “adult” progeria (Werner syndrome), which begins in adolescence(15-20 years old). The life expectancy of patients is reduced to 40-50 years. Most common reasons fatal outcome are myocardial infarction, stroke and malignant tumors. Exact reason Scientists cannot determine the development of the disease.

Who is at risk?

Although progeria is genetic disease, in the classical sense of Hutchinson-Gilford syndrome, but not hereditary, i.e. None of the parents are either carriers or affected. Each case is thought to represent a sporadic (random) mutation that occurs in either the egg or sperm before conception.

The disease affects all races and both sexes equally. If a couple of parents have one child with CSGP, the chance that a second child will be born with the same condition is 1 in 4 to 8 million. There are other progeric syndromes that can be passed on from generation to generation, but not classic CSGP.

How is progeria diagnosed?

Now that this gene mutation identified, the Progeria Research Foundation has developed diagnostic testing programs. It is now possible to confirm the specific genetic changes or mutations in a gene that lead to CSGP. After the initial clinical assessment(child's appearance and medical documentation), a blood sample is taken from the child for testing. A definitive scientific method for diagnosing children is currently being developed. This will lead to more accurate and more early diagnosis , which will help ensure that children with this mutation receive proper care.

What treatment is available for children with progeria?

A seemingly ordinary form psychological state- phobic anxiety, causes cell damage and leads to premature aging.

To date, only a few options are available to optimize the quality of life of children with progeria. Treatment includes ongoing care, cardiac care, special food and physical therapy.

Over the past few years, encouraging research data has been published describing the potential drug treatment for children with progeria. Scientists believe that farnesyltransferase inhibitors (FTIs), originally developed to treat cancer, may reverse the structural abnormalities that cause progeria in children.

26 children took part in drug trials—that’s a third of all known cases progeria. Children taking the drug showed a 50% increase in annual weight gain. Density also improved in children bone tissue before normal level, and a 35% reduction in arterial stiffness, which is associated with high risk heart attack. The researchers emphasize that thanks to new development Damage to blood vessels is not only reduced, but also partially restored over the period.

No matter how incredible it may seem, progeria actually triggers premature aging mechanisms in a young body. Officially, the disease was named after the scientists who first described and studied the pathology: in children it is Hutchinson-Gilford syndrome, in adults it is Werner syndrome.

Progeria occurs several times more often in boys than in girls. On average, patients live from 10 to 13 years (in exceptional cases up to 20): a fatal disease, unfortunately, does not provide a chance for recovery and long years life. Such children are noticeably behind in physical development from healthy peers, but this is not all the “charms” of progeria. Severe exhaustion body, structural disorder skin, absence secondary signs sexual development and hair, underdeveloped internal organs and the appearance of the old man as a whole - this is the burden that falls on the shoulders of the unfortunate child.

IN mental development the child is absolutely adequate, his body retains childlike proportions, but at the same time, the epiphyseal cartilage quickly overgrows and in its place an epiphyseal line appears - everything is like in an adult. Rapidly growing children are forced to face far from childhood problems associated with progeria: atherosclerosis, stroke, various diseases hearts.

Causes of pathology

Unfortunately, experts have not yet examined the real face of the “enemy” in detail. As a result of lengthy research, scientists were able to find out that the basis of the pathology is most likely a mutation of the lamin gene (LMNA), which is directly related to the process of cell division. Crash in genetic system deprives cells of resistance and triggers unexpected aging mechanisms in the body.

Progeria, unlike many other diseases of genetic etiology, is not inherited, that is, it appears completely by accident, and none of the parents of a sick child can be called a carrier of the pathology.

Symptoms of the disease

Immediately after birth, children carrying the deadly progeria gene cannot be distinguished from healthy babies. Already by the first year of life, numerous symptoms of the disease make themselves felt fully. Among them:

1. Visible lack of body weight, very short stature.
2. Lack of hair on the head, eyelashes and eyebrows.
3. Lack of subcutaneous fat and lack of tone in the skin - it is weak and wrinkled.
4. A bluish tint to the skin.
5. Skin hyperpigmentation.
6. Strongly protruding veins under the skin on the head.
7. Disproportional development of the bones of the face and skull, small lower jaw, bulging eyes and protruding ears, hooked nose - the child has a “bird-like” facial expression. It is this set of specific features that makes him look like an old man.
8. Late appearance of teeth that quickly deteriorate.
9. The voice is shrill and high.
10. Pear-shaped rib cage, small collarbones, “tight” knees and elbow joints, which, due to poor mobility, force the patient to be in the “rider” position.
11. Yellow convex nails are “watch glasses”.
12. Sclera-like formations on the skin of the buttocks, thighs and lower abdomen.

After a child suffering from progeria celebrates his fifth birthday, his body begins an inexorable development process, in which the aorta, mesenteric and coronary arteries. Against the background of these disorders, the appearance of heart murmurs and left ventricular hypertrophy is noted. The complex effect of these disorders on the body is considered one of the reasons for the short life of patients with progeria. The main factor in the sudden death of patients is also called ischemic stroke.

Progeria in adults

The disease can suddenly overtake an adult at the age of 14-15 to 18 years. The patient begins to lose weight, be stunted, turn gray and gradually go bald (progressive alopecia). The skin of a person with progeria becomes thinner, loses all its colors, acquiring an unhealthy pale tint. Underneath, a network of blood vessels is clearly visible, subcutaneous fat and muscles completely atrophy, so the arms and legs appear very thin.

In patients over 30 years of age, both eyeballs affects, the voice weakens, the skin over the protrusions of the bones becomes rough and covered with ulcers. Those suffering from progeria look the same: short stature, moon-shaped face, nose resembling a bird's beak, narrow mouth, sharply protruding chin, dense body and thin dry limbs, disfigured by numerous age spots. The disease unceremoniously interferes with various systems of the body: the work of sweat and sebaceous glands, the normal activity of the cardiovascular system is distorted, the body suffers from calcification, osteoporosis and erosive osteoarthritis. Unlike young patients, in adults the disease has a detrimental effect on intellectual abilities.

About 10% of patients by the age of forty are faced with such terrible diseases as sarcoma, astrocytoma, and melanoma. Oncology develops against the background diabetes mellitus and impaired functions parathyroid glands. Immediate cause The deaths of patients with progeria in most cases are malignant tumors and cardiovascular pathologies.

Diagnosis of the disease

External symptomatic manifestations the pathologies are so vivid and eloquent that the disease is diagnosed based on the clinical picture.

Treatment of the disease

MirSovetov is forced to admit that, unfortunately, there is no panacea for progeria. All treatment methods that are used today are also not always effective. However, doctors do everything that depends on them. So, all patients are under regular medical supervision, because by monitoring the state of the cardiovascular system, it is possible to timely detect the development of complications of a particular “heart” disease.

All treatment methods pursue a single, but vital goal - to “freeze” the disease, not allow it to worsen and alleviate the patient’s condition as far as possible modern medicine. How can specialists help?

1. Application minimum doses, which can protect a person from a possible heart attack or.
2. The use of other medications that are prescribed individually, based on the condition of each individual patient. For example, drugs from the statin group reduce increased level cholesterol in the blood, and so-called anticoagulants block the formation of blood clots. Growth hormone is often used to “build up” height and weight.
3. The use of physiotherapeutic procedures that work out joints that bend with difficulty, allowing a person to remain active. What could be more important for young patients?
4. Removal of baby teeth. The specificity of the disease contributes early teething permanent teeth in children, while dairy products spoil very quickly, so they need to be removed in a timely manner.

Prevention of disease on this moment not yet developed.

“Looking at this flabby face, sunken eyes and flabby skin, one would hardly think that this is a child. However, this is so.” Many people know the story of 5-year-old Bayezid Hossain, who lives in southern Bangladesh. The boy suffers from a rare genetic disease - progeria, in which the body and the body age eight times faster than usual. It all starts with muscle atrophy, dystrophic processes in teeth, hair and nails, changes in the osteoarticular apparatus, this process ends with atherosclerosis, stroke and malignant tumors. As we see, progeria has not at all encouraging symptoms, which develop into fatal dangerous diseases. Therefore, such patients always face a fatal outcome. But is it possible to alleviate their suffering and even prolong their life? Or perhaps scientists are already one step away from creating a cure for this disorder? We'll tell you in today's article.

Hutchinson's syndrome in a child, Wikimedia

Infantile progeria, or Hutchinson (Hutchinson)-Guilford syndrome

For the first time, a disease in which the body ages prematurely was identified and described in 1889 by J. Hutchinson and independently in 1897 by H. Guilford. The syndrome, which manifests itself in childhood.

Despite the fact that progeria is a rather rare disease (only one in 7 million newborns is diagnosed with it), over the entire history of observations of this disease, more than 150 cases have already been recorded in the world. At birth, children look absolutely healthy; the first signs of accelerated aging begin to appear in babies aged 10-24 months.

The cause of the disease is a mutation of the LMNA gene; it produces the protein prelamin A, which forms a unique protein network - the internal framework of the nuclear envelope. The result is that cells lose the ability to divide normally.

While studying patients, geneticists also discovered disturbances in DNA repair (restorative function), cloning fibroblasts (basic cells connective tissue) and disappearance subcutaneous tissue.

Typically, progeria is non-hereditary disease, and cases of its development are rare, but there are exceptions. In several families, such a mutation has been registered in sibling children - descendants of closely related parents. And this indicates the possibility of an autosomal recessive type of inheritance, which manifests itself in people in adulthood. By the way, this happens to one in 200,000 people.

Progeria in adults, or Werner's syndrome

Back in 1904, the German doctor Otto Werner noticed dramatic changes in appearance and condition in people 14-18 years old. He discovered the syndrome, which is associated with sudden weight loss, stunted growth, the appearance of gray hair and gradual baldness.

All these transformations of a teenager into an old man are associated with a defect in the WRN gene (ATP-dependent helicase gene). The role of the WRN protein it produces is to maintain genomic stability and maintain the structure and integrity of human DNA. Over time, the mutation disrupts gene expression, DNA loses the ability to be restored, which is the cause of premature aging.

Unlike young patients, who do not lag behind, and in some cases even surpass their peers in mental development, in adults the opposite effect is observed, because progeria begins to have a detrimental effect on their intellectual abilities.

About 10% of patients by the age of forty are faced with such terrible diseases as sarcoma, breast cancer, astrocytoma, and melanoma. Oncology develops against the background of diabetes mellitus and dysfunction of the parathyroid glands. That's why average duration The lifespan of people with Werner syndrome is 30-40 years.

The world's first treatment for progeria. American scientists tested a unique drug

At the moment, progeria is considered incurable disease. The lives of people with Hutchinson (Hutchinson)-Gilford syndrome are cut short at the age of 7-13 years, but there is isolated cases, when patients lived to be 20 or even 27 years old. And all this thanks to some kind of treatment.

However, specialists from the Progeria Research Foundation (PRF) and Boston Children's Hospital were not satisfied with such statistics. In 2012, they began the world's first clinical trials of a drug that could help rapidly aging children. And, as reported by EurekAlert! , they succeeded in this matter.

The study of patients with progeria lasted for 2.5 years. Scientists invited 28 children out of 16 to participate. various countries world, 75% of whom were diagnosed with the disease. The children came to Boston every four months and underwent full medical examination.

Throughout the entire period, subjects were given twice a day special drug farnesyltransferase inhibitor (FTI), which was originally developed to treat cancer. The research team assessed weight dynamics, arterial stiffness (a parameter for the risk of heart attack and stroke), and bone stiffness and density (a parameter for the risk of osteoporosis).

As a result, each child felt significantly better. The children began to gain weight, there were improvements in bone structure, and most importantly, in cardiovascular system.

According to doctors, the results of this study are very encouraging. In the future, it is planned to continue studying FTI drugs and their effect, which will give Additional information O cardiovascular diseases And normal process aging.

“The results of this trial are encouraging for our family. We are excited and hopeful about Megan's future. We are grateful to the Progeria Research Foundation and all the doctors for their commitment to helping my daughter and all children with progeria,” said Sandy Nighbor, mother of 12-year-old Megan, who participated in the clinical trial.

Progeria in culture and life

Believe me, it's never too late, or in my case, never too early to be who you want to be. There is no time frame - start whenever you want. You can change or remain the same - there are no rules for this. We can do better or worst choice, I hope you do the best.

This monologue is taken from David Fincher's film " Misterious story Benjamin Button", which is based on the plot of the story of the same name by Francis Scott Fitzgerald.

From birth the hero of this known history was an outcast because from infancy he had the appearance and health of an 80-year-old man: he had wrinkles all over his body and atrophied legs. However time is running, and Benjamin, on the contrary, does not age, but becomes younger. Many different vicissitudes happen to a man, and, of course, love happens in his life.

IN real life There are no such miracles, and people with progeria never grow young. But, despite their illness, such people never cease to be happy. In particular, Leon Botha, a South African artist, musician and DJ, is known to the world not only for his creative activity, as well as the fact that with terrible disease was able to live until he was 26 years old.

Leon was diagnosed with progeria at the age of 4, but the disease did not ruin his life. This man loved to enjoy every minute, although he realized that his imminent death was inevitable. For example, in January 2007, a man organized his first personal art exhibition in Durbanville, the theme of which was hip-hop culture as a way of life. Let us note that the “young” man had several such shows.

Botha was also involved in DJing and turntablism (a type of DJing) and performed in famous clubs under the pseudonym DJ Solarize. In addition, he collaborated with the South African group Die Antwoord and starred in their video for the song Enter the Ninja.

But, unfortunately, progeria spares no one. Therefore, on June 5, 2011, Botha died of an embolism pulmonary artery – pathological condition when part of a blood clot (embolus) that breaks away from its primary site of formation (often a leg or arm) moves along blood vessels and clogs the lumen of the pulmonary artery.

Today, scientists all over the world are studying this mysterious disease. They want to move it from the list of fatal to the list of intractable. It is worth noting that science has already achieved enormous results in this direction. However, many questions remain that need to be understood, namely: what are the similarities and differences between special cases of progeria and normal aging of the body, how are they related to each other? genetic reasons Werner and Hutchinson (Hutchinson)-Gilford syndrome and how to resist accelerated aging of the body. Perhaps, after some time, answers will be found, and specialists will be able to prevent the development of the disease, thereby prolonging the lives of people with progeria.

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People first started talking about premature aging syndrome 100 years ago. And it’s not surprising: such cases occur once in 4-8 million babies. Progeria (from the Greek pro - earlier, gerontos - old man) - or Hudchinson Guilford syndrome. This disease is also called childhood old age. This is an extremely rare genetic disease that accelerates the aging process by approximately 8-10 times. Simply put, a child ages 10-15 years in one year.

Children with progeria appear normal for 6 to 12 months after birth. After this, 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 and 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. People call this disease “canine old age.”

There are now about 60 known cases of progeria in people around the world. Of these, 14 people live in the United States, 5 in Russia, and the rest in Europe. Features of such patients include dwarf stature, 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 a person bird-like features. Due to the loss of subcutaneous fat, all blood vessels are visible. The voice is usually high. Mental development appropriate for age. And all these sick children are strikingly similar to each other.

Until recently, doctors were unable to determine the cause of the disease. And only recently, American researchers discovered that the cause of “childhood old age” is a single mutation. Progeria is caused by a mutated form of the LMNA gene. According to the director of the National Genome Research Institute, Francis Collins, who led the study, the 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 large protruding ears, bulging eyes and swollen veins on his bald skull - turns into a one hundred and sixteen year old man.

Hussein Khan and his family are unique in their own way: 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. Neither of them has progeria, nor do their two children, 14-year-old Sangeeta and two-year-old Gulavsa. Their 19-year-old daughter Rehena and two sons: 7-year-old Ali Hussein and 17-year-old Ikramul suffer from this disease. None of them have practically any chance of living even to 25, and this is probably the saddest thing.

Adult progeria (Werner syndrome) is a hereditary or family disease. It manifests itself as premature aging, starting at the age of 20-30, accompanied by early graying, baldness and arteriosclerosis. Adult progeria manifests itself in the following symptoms. Slowly developing juvenile cataract. The skin of the feet, legs, to a lesser extent, hands and forearms, as well as the face, gradually becomes thinner, the subcutaneous tissue and muscles in these areas atrophy. On lower limbs 90% of patients experience trophic ulcers, hyperkeratosis and nail dystrophy.

Atrophy of the facial skin ends with the formation of a beak-shaped nose (“bird nose”), narrowing of the mouth and a sharpening of the chin, reminiscent of a “scleroderma mask.” From endocrine disorders hypogenitalism is noted, late appearance or absence of secondary sexual characteristics, dysfunction of the superior and inferior parathyroid glands (disorder calcium metabolism), thyroid gland(exophthalmos) and pituitary gland (moon face, high voice). Osteoporosis is often observed. Changes in the fingers resemble those seen in sclerodactyly. Most patients with Werner syndrome die before age 40. Trials are currently underway to treat the disease with stem cells.