It is difficult to imagine the suffering of parents, whose children are literally aging before our eyes - 7-8 times faster than an ordinary person. Progeria is to blame for this, a rare genetic defect in which changes in the skin and internal organs are caused by premature aging of the body. Scientists from the United States report that they are very close to creating treatments for this disease
There are two types of Progeria, infant and adult. Throughout the history of world medicine, no more than 80 cases of progeria were recorded, including 13-year-old girl Haley Okins, 7-year-old Ashanti Elliott-Smith and 12-year-old Ontlametse Falatse (Ontlametse Phalatse), who is the only black victim of the disease. Also well known in the world is the recently deceased American TsimFuckus, a YouTube user who suffered from adult progeria and had his own video blog.
Childhood Progeria is caused by a mutation in the LMNA gene, which codes for lamines. Lamins are proteins that build a special layer of the membrane of the cell nucleus. In some families (consanguineous marriages), the disease was detected in children, which indicates the possibility of an autosomal recessive type of inheritance. In the skin cells of such patients, violations in the functioning of mechanisms for DNA repair, violations in the division of connective tissue cells and atrophic changes in the two main layers of the skin - the epidermis and dermis, were found; moreover, they lacked subcutaneous fat.
Although infantile progeria may be congenital, it does not begin immediately after birth in most patients with clinical signs, usually around 2–3 years of age. The child's growth slows down sharply, there are pronounced atrophic changes in the dermis, subcutaneous tissue, especially on the face and extremities. The skin becomes thin, dry and wrinkled. Areas with hyperpigmentation appear on the body.
Veins begin to show through the thin skin. Patients usually have a large head, the upper part of the face is very large, while the lower jaw is underdeveloped. There is also muscle atrophy, dystrophic processes in teeth, hair, nails, noticeable changes in the osteoarticular system, hypoplasia of the genital organs, lipid metabolism disorders, cataracts and atherosclerosis are observed.
The average life expectancy of children with progeria is 13 years. Most sources indicate an age interval of 7-27 years, however, cases of reaching the age of majority are rare. There is only one known case of a patient who managed to cross the 27-year-old milestone, it was a Japanese man who lived to 45 years.
Adult Progeria belongs to an autosomal recessive mode of inheritance. The defective gene in this case is not the same as in children. It's called WRN and it codes for vital enzymes. However, as in the case of childhood progeria, mutations in this gene also lead to the inability of DNA and connective tissue to repair itself.
Histology: flattening of the epidermis, connective tissue sclerosis, atrophy of the subcutaneous tissue. Clinically, the disease begins to manifest itself suddenly during puberty. At the same time, growth retardation and symptoms of hypogonadism are observed. Usually, in the third decade of life, such people turn gray and their hair begins to fall out, cataracts develop, the skin tightens very quickly, there is atrophy of the subcutaneous tissue on the face and on the limbs, as a result of which the arms and legs become especially thin. The patient develops osteoporosis, metastatic calcification of soft tissues, osteomyelitis. Often the disease is accompanied by diabetes, as well as cases of cancer.
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It is almost impossible to recover and most patients die from complications caused by atherosclerosis and cancer.
Although the disease was first described in the late 19th century, until recently, doctors were powerless to help such patients, and they grew old in front of their parents, who from the very beginning knew that their children were doomed.
However, there is hope. A group of American scientists led by Professor Francis Collins, who previously participated in studies of the human genome, have found a way to treat Progeria. Although scientists have only taken the first steps in this direction, Professor Collins emphasized his confidence that they are on the right track.
Scientists were able to restore the normal functioning of cells extracted from the body of children suffering from progeria. And all with the help of rapamycin, a substance currently widely discussed in the international scientific community. Rapamycin is a waste product of rare bacteria that live in the earth. Scientists have found that rapamycin can prolong the life of mammals. It also promotes good acceptance of donor organs by the body and has anti-tumor properties.
Collins' group succeeded in removing the abnormal protein progerin by injecting rapamycin into the diseased cell. It is because of progerin that a disease develops that causes premature aging and death of children. There is a possibility that progerin is formed from the normal proteins of the lamins. If the gene mutates, then the lamins are converted into progerin proteins.
Cells, "cured" with rapamycin, not only begin to function normally, but their life cycle is significantly increased even in comparison with healthy cells.
Now American molecular biologists plan to begin clinical trials of rapamycin and study its effect on infant progeria.
Source: telegraph.co.uk