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Huntington disease oligodendrocyte maturation deficits revealed by single-nucleus RNAseq are rescued by

Ryan G Lim1, Osama Al-Dalahmah2, Jie Wu3

  • 1UCI MIND, University of California Irvine, Irvine, CA, USA.

Nature Communications
|December 21, 2022
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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...