Progeria: A brief review

Abstract

Progeria, also known as Hutchinson Gilford Progeria Syndrome, was initially reported by Jonathan Hutchinson in 1886 and further described by Hastings Gilford in 1904. It is anatypical genetic disorder, usually not inherited, characterised by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, oesteolysis, facial features that resemble aged person (premature aging) and accelerated cardiovascular disease. In this, the patients are mentally alert and attentive with normal intelligence and emotions. It is mostly caused by a de novo point mutation in the lamin A gene that activates a cryptic slice donor site, producing a truncated mutant protein termed “progerin’’. Clinical manifestations are evident by the first or second year of life and include the physical characteristics usually associated with the elderly. In the past, doctors had to base their solely on physical symptoms but today ProgeriaResearch Foundation has establishedProgeria cell and tissue banks to assist in further research and diagnostic process. Treatment usually includes aspirin which helps prevent the atherothrombotic events, stroke and heart attacks by hindering platelet aggregation. Vitamin and fluoride supplementation are also routine therapeutic recommendations for Progeria patients.