Control faulty gene to protect weak bones

Women with a defective gene have lower bone mass and lose nearly 10 times more bone than women with a correct copy, a new study shows. Scientists have discovered new ways to help detect and treat the debilitating brittle bone disease osteoporosis, a devastating condition that affects half of all women and a fifth of men over 50 in the UK. The disease can reduce quality of life and more than a 100,000 people die each month because they are not diagnosed and treated early enough. New research published in the European Journal of Human Genetics centers on women with a faulty copy of a receptor for the energy molecule ATP- (the P2X7 receptor). “This research is really important as it may help identify women who are at more risk of developing bone diseases such as osteoporosis,” says Alison Gartland from the University of Sheffield, who is leading the research. The new findings follow earlier work by the team, published in the Journal of Biomechanics in January 2012, which discovered how individual cells in bones respond to the stresses and strains every day when we walk, climb stairs, or even raise a glass. “Bone cells release different amounts of the energy molecule ATP depending on the type of mechanical loading or stress that they experience”, adds Gartland. “We know that exercise is important to build strong healthy bones, but this latest research might explain how it works. If drugs can control the release of ATP during exercise it could help build bigger and stronger bones.” The team also investigated the way cells detect and control the amounts of ATP released and found that when a receptor called P2Y13 was changed it slowed down bone loss that would usually cause osteoporosis. This led them to suggest that a drug to switch off this receptor could reduce the onset of osteoporosis, in a third academic paper published in the journal Molecular Endocrinology in January of this year. “It’s when things go wrong that diseases such as osteoporosis develop – and then our bones can break as easily as snapping a breadstick,” Gartland says. “We are really excited by these results as it gives us three new ways to try and tackle bone diseases. We have been working very hard over the past few years using a variety of approaches to better understand how our bone cells work, how they communicate with each other, and how that can go wrong.” The research was funded by Arthritis Research UK and the European Commission.