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What is a muscle protein doing in the brain?

Accepted submission by Anonymous Coward at 2017-09-27 14:00:49
Science

Brain involvement in Duchenne muscular dystrophy was described by Duchenne de Boulogne himself in 1886. It has been largely ignored.

Duchenne muscular dystrophy (DMD) is a fatal genetic disorder that predominantly affects male children. There is no cure. Besides severe muscle wasting, the disease also affects the brain.

DMD is caused by DNA mutations that result in the body-wide loss of a protein called dystrophin. Dystrophin is essential for muscle strength and function. It acts like a shock absorber, without it muscles become weak and break down. Most affected children will be in wheelchairs by their early teens with death typically occurring in early adulthood because of complications with the heart or lungs.

Duchenne is first and foremost a muscle disorder, but the intelligence of individuals with the disease is lower than the general population. Intellectual disability, epilepsy, autism and attention deficit hyperactivity disorder are also common. Mounting evidence links these symptoms to the loss of dystrophin in the brain. But given the more urgent need to treat the muscles, brain involvement in DMD has been ignored.

https://thebiochemistblog.com/2017/09/07/what-is-a-muscle-protein-doing-in-the-brain/ [thebiochemistblog.com]


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