Scientists at King's College London and Guy's and St Thomas' have discovered the gene that is responsible for severe osteoporosis disorder.
The study gives vital insight into possible causes of osteoporosis and highlights the gene as a potential target for treating the condition.
Osteoporosis is the most common bone disease that causes reduction in bone strength and susceptibility to fractures.
The team of scientists set out to investigate the genetic cause of HCS (Hajdu-Cheney syndrome) in order to detect clues to the role genes might play in triggering osteoporosis.
They identified NOTCH2 as the causative gene using DNA from just three unrelated HCS patients. The team then confirmed their findings in an additional 12 affected families, 11 of whom had an alteration in the identical portion of the same gene.
"Up until now, we knew very little about the genetic mechanisms of severe bone disease. But these findings add to our understanding of the uncommon condition of HCS and provide an important basis to develop future studies in more common forms of osteoporosis, including the development of potential new therapies," said Professor Richard Trembath, Head of King's College London's Division of Genetics and Molecular Medicine and Medicine Director of the NIHR BRC.
The study appears in Nature Genetics. (ANI)