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Faulty gene linked to Osteoporosis

Arthritis UK have published some interesting research on how a faulty gene has been identified that leads to osteoporosis. As many of you will know this disease is closely linked with Coeliac Disease which is why we are sent for DEXA bone scans at diagnosis to assess any bone damage.

Hopefully this article points to greater understanding of osteoporisis, treatment and prevention.

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Faulty gene implicated in debilitating brittle bone disease osteoporosis

Published 2012

Arthritis Research UK scientists have discovered new ways to help detect and treat the debilitating brittle bone disease osteoporosis.

According to a scientific study published today (Thursday 19 April 2012) in the European Journal of Human Genetics, women with a faulty gene have lower bone mass and lose nearly 10 times more bone than women who have a correct copy of a receptor for the energy molecule ATP- (the P2X7 receptor).

Osteoporosis is 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.

Dr Alison Gartland from the University of Sheffield, who is leading the research, said: “This research is really important as it may help identify women who are at more risk of developing bone diseases such as osteoporosis.”

This latest finding follows on from earlier work by the team, published in the Journal of Biomechanics in January 2012, which discovered how individual cells in our bones respond to the stresses and strains every day when we walk, climb stairs or even raise a glass of wine or beer.

“Bone cells release different amounts of the energy molecule ATP depending on the type of mechanical loading or stress that they experience,” added Dr 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. They 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.

Dr Gartland added: “It’s when things go wrong that diseases such as osteoporosis develop – and then our bones can break as easily as snapping a breadstick.

“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.”

Medical director of Arthritis Research UK, Professor Alan Silman, said Dr Gartland’s research was “exciting.”

“Osteoporosis is a condition of age-related bone loss and one of the major factors that leads to fractures in older people. The reasons underlying osteoporosis are several, and include poor diet, lack of exercise and smoking, but there is also a substantial genetic basis,” he added.

“Over the past two decades ARUK has invested a considerable amount into attempting to identify the genes that might be responsible.

“Identifying these genes can help both in targeting individuals for prevention strategies plus identifying new ways of early diagnosis and the possibility of new drug therapy.

“This exciting research shows there is a very strong link between particular genes with the rate of bone loss with age.

These women who had ‘bad’ type of a particular gene had almost ten times greater bone loss than women with a normal type of gene, which is a substantial difference. Follow-up studies could lead to great benefits for patients.”

Dr Gartland will be presenting her group’s work early in the summer at a series of international meetings in Oxford, Tokyo, and at the annual meeting of the Bone Research Society and National Osteoporosis Society.

The research was funded by Arthritis Research UK and the European Commission.

2 Replies

Thanks for posting this, Fiona :) I found it interesting.

Kaarina :)


Thanks for the post ,my late Mother was a Coeliac and developed osteoporosis We were not sure if she got it due to her age or CD ,I have now been diagnosed with CD and osteoporosis at a much earlier age then she did .

Like the idea of a preventive drug I am on Alendronic Acid tablets which is not a nice drug .


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