Genetic research into the subject of osteoporosis has recently borne fruit in the form of a major genetic discovery. In April 2012, researchers at the University of Sheffield published the findings of their study into the causes of brittle bone disease. Their work has given the medical community new ways to detect and treat the disease, and carries great promise for the wellness of future sufferers. The charity Arthritis Research UK welcomed the news and claimed it represented an ‘exciting’ new direction for the field.
Osteoporosis affects around fifty per cent of all women, and twenty per cent of men. It is, unfortunately a fact of life for so many elderly people, and medical treatment often comes slowly due to the late discovery of the disease. Elderly people are usually diagnosed after breaking a bone, meaning that the disease will have already progressed quite far before the stage of diagnosis. The need for an early screening method is known to be a vital aim in the research and prevention of this disease.
The University of Sheffield study has come up with a valuable option for creating such an early screening system. The team identified a faulty gene in women with a lower bone mass, which is responsible for causing the loss of bone density at a rate ten times higher than those without the gene. The faulty gene affects the P2X7 receptor, which should ordinarily receive the energy molecule adenosine triphosphate (ATP). A deficiency in ATP is a major cause of osteoporosis because the molecule forms an essential method of bone maintenance.
The action of bone molecules is defining to the progress of osteoporosis. Bone cells release different amounts of ATP and other molecules when under mechanical loading or action. This is the reason why weight-bearing exercise is so very important for those with osteoporosis. The genetic discovery made in this research could signal a real change in people’s ability to slow the onset of osteoporosis and maintain their wellbeing for longer. Early screening can highlight who is at particular risk, and a routine of regular weight-bearing exercise could act against the progress of the disease. It is to be hoped that future research contributes to initiating improved early screening and treatment programmes.
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