Medical News Today: Huntington’s disease affects muscle as well as brain

December 14, 2016
 By Alyssa
December 14, 2016
 By Alyssa

Medical News Today: Huntington’s disease affects muscle as well as brain

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 Cl− channel defects reveal disrupted skeletal muscle maturation in R6/2 Huntington’s mice,” which will be published online November 29 in The Journal of General Physiology, suggests that HD is a disease of muscle tissue as well as a neurodegenerative disorder and that therapies targeting skeletal muscle may improve patients’ motor function.

Key Takeaways:

  • Scientists believe the thinking, mood, and behavioral features of Huntington’s disease arise from death of nerve cells in the striatum and cerebral cortex regions of the brain.
  • In previous work, the team behind the new study had found mice with an early-onset form of Huntington’s disease had defects in their skeletal muscles in the late stages of the disease.
  • The genetic information held in DNA is carried by molecules called messenger RNA to the machinery for making proteins that make cells work. The researchers were interested in what happens to the messenger RNA that carries the code for ClC-1 protein.

“The disorder arises from a faulty gene that disrupts the DNA translation and subsequent production of the protein, which in turn causes cell malfunction. People with Huntington’s disease increasingly experience uncontrolled movements, poor coordination, muscle rigidity, emotional problems, and loss of cognition or ability to think .”

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