Huntington’s Disease Affects Muscle as Well as Neuron, Study Reveals

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Researchers have discovered that mice with Huntington’s disease (HD) suffer defects in muscle maturation that may explain some symptoms of the disorder. The study, “Progressive CI – channel defects reveal disrupted skeletal muscle mautration in R6/2 Huntington’s mice” suggests that HD is a disease of muscle tissue as well as neurodegenerative disorder and that therpaies targeting skeletal muscle may improve patients’ motor function. HD is a progressive, and ultimately fatal, disorder caused by a mutation in the huntingtin gene that results in the production of defective huntingtin RNA and protein molecules that disrupt various cellular processes. The cognitive and psychiatric disturbances associated with HD, including memory loss and mood swings, are thought to result from the death of neurons in the striatum and cerebral cortex. But some of the disease’s motor symptoms, such as involuntary movements and muscle rigidity, could arise from the effects of mutant huntingtin in skeletal muscle.

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