Scientists have been successful in detecting a gene which is responsible for
severe osteoporosis disorder. The study was conducted at the King's College
London and Guy's and St Thomas. Researchers have identified a mutated gene
which leads to Hajdu-Cheney syndrome (HCS) and severe osteoporosis is a major
factor of this syndrome.
Osteoporosis is one of the most common bone diseases. It leads to reduction
in the bone strength and increases susceptibility to fractures. A single
mutated gene could put people in need of assisted living and home care.
Using the DNA from 3 unrelated patients suffering from HCS, scientists have
identified that the causative gene leading to osteoporosis is NOTCH2. These findings
were further confirmed in 12 affected families, out of which 11 families showed
alteration in the same gene.
Head of King's College London's Division of Genetics and Molecular Medicine
and Medicine Director of the NIHR BRC, Professor Richard Trembath, said, "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."
So far little was known about the possible causes of osteoporosis and this study
is significant because it identifies the possible causes of osteoporosis and highlights
the possibility of this particular gene being targeted while giving treatment.