Progeria

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(Hutchinson-Gilford syndrome)

The Progeria is a rare syndrome characterized by an aging in childhood, leading to death.

Progeria is caused by a spontaneous mutation in the LMNA gene, which encodes a protein (Lamin A), which is responsible for the molecular folding of the cell nuclei. The defective protein leads to instability of cell division and early death.

The Progeria is a rare syndrome characterized by an aging in childhood, leading to death. Progeria is caused by a spontaneous mutation in the LMNA gene, which encodes a protein (Lamin A), which is responsible for the molecular folding of the cell nuclei. The defective protein leads to instability of cell division and early death. Signs and symptoms develop within 2 years and include growth failure (eg. As short stature, delayed tooth eruption) Craniofacial anomalies (eg. B. Skull disproportion, micrognathia, hooked nose, macrocephaly, large fontanelle) Physical changes of aging (eg. B . wrinkled skin, hair loss, decreased joint mobility, hard skin that resembles the scleroderma) the diagnosis is usually apparent upon occurrence, but (of segmental progeria z. B. must Acrogeria, Metagerie) and other causes of growth arrest can be distinguished. The median age of death is 12 years. The cause is coronary and cerebrovascular disease. Insulin resistance and atherosclerosis to develop. It is noteworthy that other diseases that occur with aging (z. B. increased risk of cancer, degenerative arthritis) are not present. There are no treatment options. Support group were founded. Other progeroide Syndrome Premature aging is a feature of other rare progeroid syndromes. Werner’s syndrome is characterized by premature aging after puberty with hair thinning, and the development of age-related symptoms (for. Example, cataract, diabetes, osteoporosis, atherosclerosis). The Rothmund-Thomson syndrome is premature aging associated with increased susceptibility to cancer. Both are caused by a gene mutation which leads to a defective RecQ DNA helicase, which normally mended the DNA. Cockayne syndrome is an autosomal recessive disease caused by a mutation of ERCC8 gene that is important for the excision of the DNA in repairing. Clinical findings include a severe growth retardation, cachectic appearance, retinopathy, hypertension, renal failure, skin photosensitivity and mental retardation. The neonatal progeroide syndrome Wiedemann-Rautenstrauch is a recessive inherited aging syndrome and runs at the age of 2 years fatal. In other syndromes (eg. As Down’s syndrome, Ehlers-Danlos syndrome) patients have occasionally progeroide trains.

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