Researchers at Johns 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 Johns 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.