Maharashtra Institute Of Pharmacy (B.Pharm) Betala, Bramhapuri
Progeria also known as “Hutchinson Gilford Progeria Syndrome”, was reported by Jonathan Hutchinson in 1886 and further described by “Hasting Gilford” in 1904. It is rare genetic disorder characterized by dramatic phenotype premature aging and accelerated cardiovascular disease. It is mostly caused by a de novo point mutation in the lamin A gene that activate a cryptic slice donor site,producing a truncated mutant protein termed “progerin”.Clinical manifestations are evident by the first and second year of solely on physical symptoms but today the progeria research foundation has established progeria cell and tissue banks to assist in further diagnostic process. Treatment include aspirin which helps prevent the atherithrombotic events,stroke and heart attack by hindering platelet aggregation.
Phynotype Premature Aging, hindering platelet aggregation, atherithrombotic events