( Researchers report they have identified...)Mutation connected to Osteoporosis,Health

Researchers report they have identified a genetic defect that causes a rare bone disease in which the body makes too much bone, a finding that may lead to treatments for osteoporosis. According to Dr. Michael Levyn, director of the bone and mineral center at Hopkins University, the new finding will help bone researchers understand why the body loses the ability to make new bone cells as people age.//

Later, Levine explained the researchers studied DNA from 15 people who have a condition called progressive osseous heteroplasia or POH. People who have POH form extraskeletal bone, essentially small rice-like bone fragments that grow in various organs in the body. He said DNA from the patients revealed 13 of the 18 shared a GNAS1 mutation -- guanine nucleotide binding protein alpha stimulating activity polypeptide. GNAS1 controls a protein that plays a critical role in way cells function. In the case of POH, the GNAS1 mutation results in a mistaken signal to non-skeletal cells, which results in the creation of bone by the misinformed cells.

Levyn, who also worked with researchers from the University of Pennsylvania School of Medicine, the Royal Children's Hospital in Melbourne, Australia, and the Washington University School of Medicine in St. Louis, said the finding may lead to development of a genetic treatment for POH. But he said the real significance of the research might be the light it sheds on the genetic basis for bone formation. Although about one in 100,000 people have POH, many millions of people will develop osteoporosis, which affects most elderly women and many elderly men.

Up until age 30 healthy people have the ability to grow new bone but after that time the bone building cells, called osteoblasts die off and with those cells goes the ability to make bone. As the mineral content of bone decreases, the bones become fragile and easily break, which leads to the disability associated with osteoporosis.

Currently, osteop
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