Emily is a health news writer based in London, United Kingdom. She holds a bachelor's degree in biology from Durham University and a master's degree in clinical and therapeutic neuroscience from Oxford University. She has worked in science communication, medical writing and as a local news reporter while undertaking journalism training.
Scientists have pinpointed a genetic cause of an extremely rare bone-weakening disease seen in young people.
Researchers performed a genetic analysis that revealed that mutations in a specific gene can disrupt the function of a protein called MTNR1A, and this may be partly responsible for the development of idiopathic osteoporosis. The scientists published their findings Oct. 16 in the journal Science Translational Medicine. The protein is a receptor on the surface of cells that melatonin, best known as a sleep-promoting supplement, plugs into.
By submitting your information you agree to the Terms & Conditions and Privacy Policy and are aged 16 or over.In addition to the family, the researchers sampled DNA from 75 female patients with the condition who were not related to one another. The rs28383653 mutation was particularly prevalent in the female participants with idiopathic osteoporosis, carried by around 4% of people in this population. That's compared to 1.7% in the Ashkenazi population overall, and 0.9% of the general population. The rs374152717 variant, on the other hand, was found in 40% of the family members, 0.9% of the overall Ashkenazi population and 0.04% of the general population.
"It is possible that by finding means to restore activity of this pathway of melatonin signaling , we could prevent further bone loss and fractures or restore bone defects," said Stavroula Kousteni, study co-author and a professor of physiology and cellular biophysics at Columbia University.
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