Gene responsible for severe osteoporosis disorder discovered

Mar 06, 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 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 and Medicine Director of the NIHR BRC, said: "Up until now, we knew very little about the of severe . 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."

Explore further: First genetic link discovered to difficult-to-diagnose breast cancer sub-type

Related Stories

Researchers pinpoint osteoporosis genes

May 03, 2010

A team of international researchers has identified 20 genes associated with osteoporosis and bone weakness, including 13 genes never previously associated with the disease. Osteoporosis is a highly heritable trait, but this ...

The Medical Minute: Osteoporosis

May 26, 2010

Osteoporosis is a disease in which bones become thin. As a result, the bones are more likely to break. Bones most often affected are in the hip, spine and wrist, but the ribs and other bones also are at risk.

Taking a break from osteoporosis drugs can protect bones

Nov 18, 2010

Taking time off from certain osteoporosis drugs may be beneficial to bone health, according to a study conducted at Loyola University Health System. Researchers found that bone density remained stable for three years in patients ...

Skull bone may hold the key to tackling osteoporosis

Dec 19, 2009

Scientists at Queen Mary, University of London have uncovered fundamental differences between the bone which makes up the skull and the bones in our limbs, which they believe could hold the key to tackling bone weakness and ...

Recommended for you

Refining the language for chromosomes

Apr 17, 2014

When talking about genetic abnormalities at the DNA level that occur when chromosomes swap, delete or add parts, there is an evolving communication gap both in the science and medical worlds, leading to inconsistencies in ...

Down's chromosome cause genome-wide disruption

Apr 16, 2014

The extra copy of Chromosome 21 that causes Down's syndrome throws a spanner into the workings of all the other chromosomes as well, said a study published Wednesday that surprised its authors.

User comments : 0

More news stories

UAE reports 12 new cases of MERS

Health authorities in the United Arab Emirates have announced 12 new cases of infection by the MERS coronavirus, but insisted the patients would be cured within two weeks.

Filipino tests negative for Middle East virus

A Filipino nurse who tested positive for the Middle East virus has been found free of infection in a subsequent examination after he returned home, Philippine health officials said Saturday.

NASA's space station Robonaut finally getting legs

Robonaut, the first out-of-this-world humanoid, is finally getting its space legs. For three years, Robonaut has had to manage from the waist up. This new pair of legs means the experimental robot—now stuck ...