Mutated enzyme weakens connection between brain cells that help control movement — ScienceDaily

In one type of a rare, inherited genetic disorder that affects control of body movement, scientists have found a mutation in an enzyme impairs communication between neurons and what should be the inherent ability to pick up our pace when we need to run, instead of walk, across the street.

The disorder is spinocerebellar ataxia, or SCA, a neurodegenerative condition resulting from different genetic mutations whose debilitating bottom line can include ataxia — loss of control of body movement — and atrophy of the cerebellum, a small part of the brain jam packed with neurons, which coordinates movement and balance, says Dr. Ferenc Deak, neuroscientist at the Medical College of Georgia at Augusta University.

The enzyme is ELOVL4, which produces very long chain fatty acids, and its mutation is known to cause the specific SCA type 34. Animal models with this SCA type have problems with…

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