Progeria - How Young Become Old | Briefly about Progeria
Time changes our body and organism - it is a constant constant of life. Today, people live long enough, and the recommendations of doctors on a healthy lifestyle help to stay active and slow the progression of diseases. We learn to accept age-related changes, not counting them as disadvantages, and if desired, external changes can be corrected. But the main difficulty of aging is not related to appearance - with age, genetic mutations accumulate, diseases appear that reduce the quality of life and worsen well-being. However, it happens that the body is aging at an accelerated rate. This occurs in progeria, a rare genetic disorder that manifests itself in early childhood and causes premature death.
Chapters:
0:00 Aging
0:50 Disease mechanism
1:27 Children's Progeria
2:48 Adult Progeria
4:27 Progeria Research Foundation
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Progeria is caused by a mutation in the LMNA gene, which encodes the protein lamin A, which provides molecular support to the cell nucleus. A protein defect leads to nuclear instability during cell division and early death of all cells in the body. In the cells of patients with progeria, the nuclear membranes shrink, the nuclei acquire an irregular shape. As a result, the body not only stops growing, but also loses the ability to replace dying cells with new ones, which leads to accelerated aging.
The incidence of childhood progeria is estimated at one in four million newborns; in 2019, there were 157 children with progeria worldwide. The age of onset of progeria is considered the first two years of life.
In addition to childhood progeria, adult progeria or Werner's syndrome is also distinguished - this is premature aging that occurs after puberty with thinning hair and the development of conditions characteristic of old age (for example, cataracts, diabetes mellitus, osteoporosis, atherosclerosis). He is found from 14 to 18 years old.
Premature aging is also a feature of other rare progeria-like syndromes.
Rothmund-Thomson syndrome is manifested by premature aging with an increased risk of cancer.
Cockayne's syndrome is a disease caused by a mutation in the ERCC8 gene. Clinical symptoms include severe growth impairment, cachexia, hypertension, renal failure, skin photosensitivity, and mental retardation.
Although patients with progeria, on average, do not live up to 20 years, there are exceptions. A resident of the United States turned out to be one of the oldest among the prematurely aged. Tiffany Wedekind of Columbus, Ohio was only diagnosed with Progeria as an adult. In the case of Tiffany, the doctors decided that most likely she had a mild form, so the disease did not make itself felt in any way before.
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Progeria - How Young Become Old | Briefly about Progeria
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