Progeria

Hayley Okines who suffers from an extremely rare genetic condition called Hutchinson Gilford Progeria Syndrome, also known as HGPS or Progeria. At present there are 53 known cases of Progeria around the world. Progeria (Hutchinson-Gilford progeria syndrome) is a rare genetic disorder. It is characterized by segmental premature aging and death between 7 and 20 years of age from severe premature atherosclerosis. Mutations in the LMNA gene are responsible for this syndrome. Thirty years ago, virtually nothing was known about progeria, and due to the rarity of the disease, little research was done until the 1990s. Progeria is a progressive terminal condition which mimics many of the characteristics of the normal ageing process, but faster and faster about 8 times faster in fact!

A 10 year old progeria child will have the appearance of an octogenarian with symptoms including baldness, arthritis and heart problems...but with the mind of a 10 year old!

Key words: progeria, LMNA, Hutchinson-Gilford progeria syndrome

Author: http://www.pharmainfo.net/santhsh-aruna

Guide: http://www.pharmainfo.net/meguptas

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Comments

sandeepk's picture

what are the major reasons for the mutation??? any mutagens???
viswanadh16's picture

are there any reports about the probable mechanism involved in the progeria. most of the diseases which are difficult to treat have autoimmune antibody as aetiology.is ther any report on progeria of this kind.
GOPAL

Explain progeria gene disorder.

Averineni Ravi Kumar

bhavya's picture

is there any approved method available for diagnosis of progeria?
k.bhavya
bindu's picture

how we can detect mutations in LMNA gene?