Scientists discover key to rare skeleton disease

U.S. researchers have identified a mutant gene that turns muscle and other connective tissues into bone to imprison its victims in a second skeleton, according to findings reported Sunday in an online edition of Nature Genetics.

The disorder, known as fibrodysplasia ossificans progressiva (FOP), begins early in childhood and has no cure. It progressively transform muscles, ligaments and tendons into ribbons, sheaths and plates of bone that cover and lock the joints, making movement impossible.

“The discovery of the FOP gene is relevant to every condition that affects the formation of bone and every condition that effects the formation of the skeleton,” said Frederick Kaplan, of the University of Pennsylvania, who led the research, reports Xinhua.

The discovery of a single gene that causes fibrodysplasia ossificans progressiva (FOP) offers new hope of a first effective therapy for the disorder, which begins early in childhood and has no cure.

By providing insights into the genetic signals that govern bone growth, the research should also improve understanding and treatment of a wide range of more common skeletal conditions. These include osteoporosis, spinal injuries and sports injuries such as the bone spurs that have hampered the cricketers Andrew Flintoff and Glenn McGrath

“The substitution of one genetic letter for another out of six billion genetic letters in the human genome is like a molecular terrorist that short-circuits a functioning set of muscles and connective tissues and transforms them into a second skeleton, in essence turning a light bulb into an atom bomb,” Dr Kaplan said, informs Times Online.


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