25-year University of Utah research identifies ZFHX3 gene mutation causing Spinocerebellar Ataxia 4, impairing protein recycling.

25-year research led by the University of Utah identifies the genetic cause of rare neurological disorder, Spinocerebellar Ataxia 4 (SCA4). The mutation in the ZFHX3 gene, responsible for an extra-long string of repetitive DNA, impairs protein recycling in cells, potentially poisoning nerve cells. This discovery could lead to better treatments and inform life decisions for affected families.

April 29, 2024
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