Hutchinson-Gilford progeria syndrome - A brief introduction
Progeria is also known as Hutchinson Gilford Progeria Syndrome. It is described by Jonathan Hutchinson and Hasting Gilford. The word Progeria obtained from the Greek word “pro” means “before” and “geras” means “agedness”. It is a genetic disorder, not inherited. It is identify by facial appearance containing prominent eye, thin nose, small chin and thin lip. The symptoms of progeria may include alopecia (hair loss), low body weight, decrease joint motility, facial appearance that are similar to old age person and accelerated cardiovascular disease. It is caused due to mutation in LMNA gene in which cysteine is replaced by thymine. This gene is important for producing Lamin A and Lamin C proteins. Treatment includes aspirin may helps to prevent antithrombotic events and cardiovascular disease. Hydrotherapy may be used to improve joint mobility and sign and symptoms of arthritis. FTIs (farnesyl transferase inhibitors) are used to decrease the severity of disease. FTIs are effective by blocking the farnesylation of progerin. Fluoride and vitamin supplements are recommend for progeria patients.
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