Navigation Links
Gene responsible for severe osteoporosis disorder discovered
Date:3/6/2011

Scientists have identified a single mutated gene that causes Hajdu-Cheney syndrome, a disorder of the bones causing progressive bone loss and osteoporosis (fragile bones). The study, published in Nature Genetics today, gives vital insight into possible causes of osteoporosis and highlights the gene as a potential target for treating the condition.

There are only 50 reported cases of Hajdu-Cheney syndrome (HCS), of which severe osteoporosis is a main feature. Osteoporosis is a condition leading to reduction in bone strength and susceptibility to fractures. It is the most common bone disease, with one in two women and one in five men over 50 in the UK fracturing a bone because of the condition. This represents a major public health problem yet, until this study, possible genetic causes of osteoporosis were poorly understood.

The team of scientists, led by the National Institute for Health Research (NIHR) comprehensive Biomedical Research Centre (BRC) at King's College London and Guy's and St Thomas', set out to investigate the genetic cause of HCS in order to detect clues to the role genes might play in triggering osteoporosis.

Using a cutting edge technique for identifying disease-causing genes, known as exome sequencing, the team were able to identify 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.

Professor Richard Trembath, Head of King's College London's Division of Genetics and Molecular Medicine and Medicine Director of the NIHR BRC, 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."


'/>"/>

Contact: Emma Reynolds
emma.reynolds@kcl.ac.uk
020-784-84334
King's College London
Source:Eurekalert

Related biology news :

1. BUSM researchers uncover cellular mechanism responsible for chronic inflammation, Type 2 diabetes
2. U of M researcher helps unlock 30 new genes responsible for early onset puberty
3. Black aspergilli species responsible for infecting corn identified
4. Researchers find gene responsible for neurodegenerative disease in dogs, possibly in humans
5. Ancient microbes responsible for breathing life into ocean deserts
6. An IRCM researcher pinpoints the cellular mechanism responsible for modulating the permeability of blood vessels
7. Rare and common genetic variations responsible for high triglyceride levels in blood
8. Thesis analyzes factors responsible for the case of Basque natural cider turning bitter
9. Brain atrophy responsible for depression in people battling multiple sclerosis
10. Responsible science for do-it-yourself biologists
11. Genome of bacteria responsible for tuberculosis of olive tree sequenced
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/11/2017)... N.Y. , April 11, 2017 ... fingerprints, but researchers at the New York University ... College of Engineering have found that partial similarities ... security systems used in mobile phones and other ... thought. The vulnerability lies in the ...
(Date:4/6/2017)... 2017 Forecasts by Product Type ... by End-Use (Transportation & Logistics, Government & Public Sector, ... Fossil Generation Facility, Nuclear Power), Industrial, Retail, Business Organisation ... Are you looking for a definitive report on the ... ...
(Date:4/5/2017)... April 5, 2017 Today HYPR Corp. ... the server component of the HYPR platform is officially ... the end-to-end security architecture that empowers biometric authentication across ... has already secured over 15 million users across the ... of connected home product suites and physical access represent ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... ... October 11, 2017 , ... ... Andi Purple announced Dr. Suneel I. Sheikh, the co-founder, CEO and chief research ... Inc. has been selected for membership in ARCS Alumni Hall of Fame ...
(Date:10/11/2017)... ... October 11, 2017 , ... Personal eye wash is a basic first aid supply for any ... So which eye do you rinse first if a dangerous substance enters both eyes? It’s ... Wash with its unique dual eye piece. , “Whether its dirt and debris, or ...
(Date:10/11/2017)... , ... October 11, 2017 , ... ... announced today it will be hosting a Webinar titled, “Pathology is going digital. ... Associates , on digital pathology adoption best practices and how Proscia improves lab ...
(Date:10/11/2017)... LAGUNA HILLS, Calif. , Oct. 11, 2017 /PRNewswire/ ... London (ICR) and University of ... tool to risk-stratify patients with multiple myeloma (MM), in a ... . The University of Leeds is ... Myeloma UK, and ICR will perform the testing services to ...
Breaking Biology Technology: