Dogs Provide Insight Into Rare Genetic Disease

A rare genetic disease may be going to the dogs. About six in 100,000 babies are born with centronuclear myopathy, which weakens skeletal muscles so severely that children have trouble eating and breathing and often die before age 18. Now, by discovering a very similar condition in canines, researchers have a means to diagnose the disease, unravel its molecular intricacies, and target new therapies.

The story began when Jocelyn Laporte, a geneticist at the Institute of Genetics and Molecular and Cellular Biology in Strasbourg, France, uncovered the genetic roots of an odd form of centronuclear myopathy that showed up in a Turkish family. Three children, two of them fraternal twins, were born normal. Then, at the age of 3-and-a-half, they grew progressively and rapidly ill. (Most forms of the illness do not come on so suddenly.) The twins died by the age of 9. Their younger brother recently reached the same age but is very ill. Investigators traced the problem to a mutation in a gene called BIN1, which makes a protein that helps shape the muscle so that it can respond to nerve signals that initiate muscle contraction.

To find out how mutations in this gene could lead to such dire consequences, other researchers tried to genetically engineer mice models. But deleting the BIN1 gene failed to recreate the disease in mice, so the researchers had to look elsewhere.

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