Wednesday, December 9, 2009

The Paa Problem... PROGERIA

Auro is suffering from 'Progeria'.

The word Progeria is derived from the Greek progeros meaning 'prematurely old'. The Greek word pro means 'before', while the word geras means 'old age'. It is an extremely rare, fatal genetic condition.Progeria affects children and gives them an appearance of accelerated aging.

Progeria Factfile
  • About 100 cases (only!) have been formally recorded in medical history till date.
  • There is a 1 in 8 million chance of having it!
  • Children with Progeria are born looking healthy.
  • Features of aging that should start in 60s, start to appear as the child ages past infancy.
  • Growth failure, Loss of body fat, Loss of hair, and a distinctive facial appearance (small face and jaw, pinched nose) are all characteristic of progeria.
  • They will have small, fragile bodies, like those of elderly people.
  • Later, the condition causes wrinkled skin, atherosclerosis, and cardiovascular problems.
  • Progeria patients generally die in early teens.
  • Most die from cardiovascular complications.
  • Patients with Progeria have a mutation on the gene that encodes a protein “Lamin A” whose fuction is to hold the nucleus of the cell together.
  • The defective Lamin A protein makes the nucleus unstable, which leads to the process of premature aging.
  • This is a rare gene change which happens purely by chance, and not inherited.
  • For treatment few anti cancer drugs (eg Lonafarnib- a type of Farnesyltransferase inhibitor) are being tried but with minimal success.
  • Mainstay of management is symptomatic and supportive medical care for complications; supportive psychotherapy for patient as well as care givers.
  • Any research into finding a cure for Progeria would probably have results which would benefit adults with diseases linked to aging.


Scaffidi P, Gordon L, Misteli T (2005) The Cell Nucleus and Aging: Tantalizing Clues and Hopeful Promises. PLoS Biol 3(11): e395. doi:10.1371/journal.pbio.0030395


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