Scientists discover gene that causes severe osteoporosis disorder
March 7th, 2011 - 10:55 am ICT by ANILondon, Mar 7 (ANI): 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)
- Fracture prone? Blame your genes - Apr 22, 2012
- At-risk adults tend to blame genes for ill-health than change lifestyle - Jun 09, 2010
- Bad genes an easy excuse for poor health - Jun 10, 2010
- 'Anti-ageing' vitamin could weaken your bones - Mar 06, 2012
- A jab to beat osteoporosis by building new bones - Apr 22, 2011
- New approach helps pinpoint genes behind common diseases - Apr 30, 2010
- Gene discovery offers hope of screening test for bone disease - May 03, 2010
- Not all cases of chronic pancreatitis are alcohol-induced: Study - Mar 12, 2011
- Genes that hold key to a long, healthy life identified - Apr 15, 2011
- Now, just one bone-building jab is all it takes to cure osteoporosis - Apr 23, 2011
- Rogue gene causes short-sightedness - Sep 13, 2010
- Scientists alter genetic code to cure hereditary disease - Jun 27, 2011
- Bone marrow cells that convert into skin cells could revolutionise wound treatment - Apr 05, 2011
- Reasons behind kidney stones found - Apr 19, 2012
- Gene combinations linked to hip osteoporosis in postmenopausal women - Mar 30, 2011
Tags: bone disease, bone strength, causes of osteoporosis, college london, future studies, genetic cause, genetic mechanisms, hajdu, hcs, medicine director, molecular medicine, nature genetics, nihr, osteoporosis, professor richard, s college, target, trembath, uncommon condition, vital insight