- 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