Progeria is a very rare genetic defect, being manifested in an extensive change of a skin integument and viscera, caused by human body presenilation. The main progeria forms are children’s progeria (Hutchinson-Gilford syndrome) and adults’ progeria (Werner syndrome). In total on our planet there are 52 cases of progeria, which are officially registered. Children sick with progeria do not differ externally from ordinary children before half a year after the birth, but further they show the symptoms inherent in the elderly people: the integument becomes covered by wrinkles, hair drops out, bones become fragile, and atherosclerosis develops. Children with this awful genetic defect perish aged from 5 till 15 years old.
For the first time progeria was spoken about more than 100 years ago. This rare syndrome of presenilation occurs in one of 8 million newborns. Progeria (from the Greek â€œproâ€ means â€œoverâ€, â€œgerontosâ€ â€“ â€œan old manâ€) is an extremely rare genetic disease, accelerating the process of aging approximately at 7-12 times. In other words, in a year of life the child grows old as in 10 years. The seven-year-old kid externally looks for 70 years old, having flabby skin covered with wrinkles, and head with the dropped-out hair. The life of these children usually comes to an end in 12-15 years old after several heart attacks against the strokes of progressing atherosclerosis, cataract, glaucoma, total loss of teeth, etc. Only a few of them live till 18 years old or a little more.
The distinctive features of the patients with progeria are small height, small weight (about 15-20 kg), extraordinary thin skin, worsened mobility of joints, undeveloped chin and a small face in relation to the head size. Vessels are clearly visible through a thin skin. The voice most often sounds high. I.Q. corresponds to the age. The general similarity of all the children sick with progeria is also remarkable.
The children’s progeria was described independently by two doctors: J. Hutchinson (1886) and H. Gilford (1904). In their honor this disease was called as a syndrome of Hutchinson-Gilford. For 125 years of the medical practice more than hundred cases of children’s progeria have been described. The symptoms of the illness are usually shown in the first two-three years of life of a child.
Progeria begins unexpectedly: some large pigmentary spots appear on a stomach of the kid. From this point, his/her growth is slowed down, weight increases very slowly. Skin becomes thinner to such an extent that blood vessels illuminate through it. In comparison with the trunk, head looks very big; the person, on the contrary, is very small with small â€œbird’s traitsâ€ and an underdeveloped chin. The weight of the child does not exceed 20 kg, growth stops on a mark of 110-120 cm. In the process of â€œgrowingâ€, an atrophy of muscles and a dystrophy of teeth are developed; the hair from the head gradually disappears. Besides, pathological changes of the skeleton and joints are observed. Bones become fragile, skin is much wrinkled, and body becomes hunched and twisted. The problems with cardiovascular system are observed. There is a violation of a fatty exchange, atherosclerosis develops. The problems with the eye-sight begin, cataract is often fixed. Intellectual development of the child corresponds to his physical age.
Progeria of adults takes place extremely seldom, the inheritance type is autosomic-recessive. The exact causes of the illness are unknown; however, the scientists assume that the illness is connected with the process of violation of the reparation of the DNA, an exchange of connective tissue. There is an epidermis flattening, homogenization and a sclerosis of connective tissue, and then an atrophy of hypodermic cellulose, which is replaced with its connective fibers.
The disease is shown clinically during the puberty: it is possible to notice symptoms of a hypogonadism and slowing down the growth. At the age of 30-40, the patient’s hair starts turning gray and dropping out, skin becomes thinner, cataract develops, then there comes an atrophy of hypodermic cellulose owing to hands and feet become thin, and the face is similar to a mask. The patients with Werner’s syndrome are overtaken by osteoporosis, diabetes; the formations of malignant tumors (sarcoma, a skin cancer, etc.) are also possible.
Before the beginning of the XXI century, special researches about the reasons of progeria were not carried out. In the medical environment, there was an opinion that no drugs could cure this unclear and horrible disease. However, the science does not stand still. Scientific physicians were interested by that fact that fast aging of the children, sick with progeria, leads to the development of the same diseases of which old people die. To understand the aging mechanism, the researchers were engaged in studying the reasons which cause progeria.
In 2004, the scientists of Brunel University (London) discovered the LNMA gene, which mutation caused progeria.Â This gene codes protein lamyn A, being a part of proteins of a cover of a cellular nucleus.Â The damaged lamyn A causes the deformation of the cellular nuclei.Â It is fraught with that in an organism there is a deficiency of the proteins necessary for the creation of connective tissues of an organism.Â A normal process of aging is explained by the law of divisibility of cells.Â This law was opened by the American biologist L. Heyflick in 1961.Â The main sense of the law consists in that the cells of people’s organism can divide only till a certain moment, which is called as Heyflick’s limit.Â Owing to the pathological cell fission, Heyflick’s limit of the sick children is considerably lowered, and it means premature fast aging of a young organism.Â Now, the scientists face a new problem â€“ it is necessary to understand how the mutating gene works up to the end.
The researchers in their works encountered the medical preparationâ€” the FTI, it was capable to block the production of this protein and, at least, to suspend the development of pathological processes, and even to turn some time back.
However, there was a problem in the identification of such patients. It was not enough of them and they were scattered all over the world. The initiative group assumed a huge work on their search. The patients lived in the different countries, it was necessary to receive their consent and consent of their parents. At last, it was necessary to take them to Boston if such consent was received, (the tests took place in children’s hospital of Boston). The life of such children is so short, so the experiments should not last too long.
Fortunately, the new medical preparation FTI, which had originally been developed for a cancer therapy, showed big prospects of treatment of children with progeria â€“ a rare and fatal disease.
In the tests of the preparation, which have lasted for 2,5 years, 26 children â€” three quarters of all known cases ofÂ progeria took part. During the course of treatment children were given the medical preparation FTI twice a day, and they were watched their weight, comparing it to that they had had prior to the research. The scientists paid a special attention to the weight of the children as the patients, suffering from progeria, practically did not gain kilograms and, as a rule, weighed very little.
The researchers also watched the condition of blood vessels of the sick children. It is known that the sick children’s arteries differ by their rigidity that leads to heart attacks and strokes. One more important indicator was the structure of bones, namely their density, which the development of possible osteoporosis depends on. After the received medical treatment all the children were observed having a positive dynamics in respect of their weight, structure of bones, as well as elasticity of blood vessels.
A third of the children, taking the preparation, showed 50% of increase in an annual increase in weight. The children improved the density of the bone tissue to a normal level, and the arterial rigidity, which was connected with the increased risk of heart attack, was reduced by 35%.
Doctor Lesley Gordon from the Boston hospital emphasized that the fact that the damages of blood vessels at progeria could not only be lowered by the medical preparation FTI, but even be partially restored within only 2,5 years of treatment, was a huge break in the science, because cardiovascular diseases were a final cause of death of the children with progeria.
Besides, there are also other causes of the emergence of this illness. They are, for example, short telomeds (repeating sites on the ends of chromosomes). The longer they are, the better the cells divide, with the age telomeds become thinner and shorter, the cell does not divide anymore and dies off. On the other hand, nobody knows whether these mutations are the reason or the consequence of this illness.
The most known cases of progeria are:
The Hungarian king Ludwig the Second, who had stayed on a throne only for five years and died being a decrepit old man at the age of twenty years old. Fortunately, he managed to marry, but he could not succeed in leaving the successors.
The Indian family the Khan, where there are four children sick with a progeria at once. It, probably, is the only known case of a mass progeria. In the family there are only two children who have no this dreadful disease. The mother and the father of the Khan family are rather close relatives (the cousin brother and sister) that suggests an idea of progeria studying in the new direction. Â None of them has progeria as well as two of their children, 14 year old Sangita and two year old Gulavsa. Their 19 year old daughter Rekhena and two sons: 7 year old Ali Hussein and 17 year old Ikramul, have this illness. None of them practically has any chances to live till 25.
The Lithuanian Alvidas Gudelyauskas, who turned from the twenty year old young guy into the sixty year old man literally for only a few months. His wife walked out on him at once, and the child was so frightened that he did not want to communicate with him. Alvidas made two plastic surgeries and he began to look forty. He is likely to be alive now and he is even going to marry again.
So, during the previous researches it was revealed that the protein, causing the development of progeria, is developed in an organism of all people, and its level raises with age. Scientists also consider their clarification that the influence of telomeds on progeria development is an enormous scientific jump forward. The past researches were not so informative, because of a small number of people who had this disease and the absence of a modern base for studying of this problem. The connection of these two factors is a huge invention from the scientific point of view. Researchers plan to continue studying the medical preparations FTI and their consequences, which gives additional information on cardiovascular diseases and a normal process of aging. Now, scientists are going to conduct the second research of this kind, which is financed by the National Institutes of Health, the USA.