Osteoporosis gene breakthrough

Two scientific teams in Iceland and the UK have independently discovered gene mutations that are linked to osteoporosis, a disease that leads to the weakening of bones. These mutations were found by using the DNA samples of thousands of women, both with the disease and without. These were screened for single nucleotide polymorphisms (SNPs), a type of random mutation. Two mutations particular were found which, if a woman had both, increases the risk of bone fractures by up to 30% and the risk of osteoporosis by up to 50%.

The first mutation is located on the LRP5 gene. This gene produces lipoprotein-receptor-related protein, which is a molecule on osteoclast cells which influences if the cell matures into a bone cell or not. This mutation increases the risk of osteoporosis or related fractures by 30%.

The second important mutation is found on the TNFRSF11B gene. This gene generates osteoprotegerin, which is a signalling molecule which blocks bone resorption. The mutation results in lower bone mineral density and therefore carriers are 20% more likely to experience bone fractures.

The discovery of these mutations is an important step towards the prevention of osteoporosis and the development of drug treatments. Women could be screened for the gene mutations and consequently change their lifestyle at an earlier age in order to aid in the prevention of developing the disease.

By Alice Adams
Related links:
http://www.newscientist.com/channel/life/genetics/dn13808-gene-discoveries-could-crack-bone-disease.html