Abstract

SYSTEMATIC REVIEW OF PROGERIA –THE RARE DISEASE

Tintu Babu* and Merlin Thomas

ABSTRACT

Progeria, or Hutchinson Gilford Progeria Syndrome, was initially reported by Jonathan Hutchinson in 1886 and further described by Hastings Gilford in 1904. Progeria or Hutchinson–Gilford progeria syndrome is anatypical genetic disorder, usually not inherited. It is characterized 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 It is almost never passed on from parent to child, as affected children rarely live long enough to have children themselves. Clinical manifestations are evident by the first or second year of life and include the physical characteristics usually associated with the elderly Classical Hutchinson–Gilford progeria syndrome is usually caused by a sporadic mutation taking place during the early stages of embryo development. Progeria is almost always caused by de novo point mutation in the lamin A gene that activates a cryptic splice donor site, producing a truncated mutant protein termed ‘‘progerin.’’ In the past, doctors had to base a diagnosis of progeria solely on physical symptoms but progeria research foundation establishes the Progeria cell and tissue bank to assist in further research and diagnostic process. Aspirin may help prevent atherothrombotic events, stroke and heart attacks by hindering platelet aggregation. Vitamin supplementation, Fluoride supplements are recommended

Keywords: Hutchinsons Gilford Progeria Syndrome, progerin, lamin A, premature ageing.