Bone gene discovered

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Bone gene discovered

Researchers at s Hopkins University say discovery of the genetic basis of a

rare disorder will help understand bone formation.

Progressive osseus heteroplasia (POH) is a rare and unusual bone disease where

tiny fragments of bone form under the skin and inside internal organs. Doctors

at s Hopkins have studied 18 unrelated individuals with a family history of

POH and find most of them have a mutation in a gene called GNAS1.

This gene codes for a protein that responds to hormone signals, and the mutation

blocks this response. The end result is the inappropriate formation of bone in

POH. Finding the GNAS1 mutation may well lead to new treatments for this disease

but, perhaps more importantly, it sheds light upon the bone formation process.

Osteoporosis is marked by bone being destroyed faster than it is formed - it

could be that a better understanding of bone formation may lead to a new

approach to therapy.

Source

New England Journal of Medicine January 10 2002