Mechanisms underlying neurodegeneration in Huntington disease: applications to novel disease-modifying therapies

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The CAG repeat expansion mutation that causes Huntington Disease (HD) was discovered more than 20 years ago, yet no treatment has yet been developed to stop the relentless course of the disease. Nonetheless, substantial progress has been made in understanding HD pathogenesis. We review insights that have been gleaned from HD genetics, metabolism, and pathology; HD mouse and cell models; the structure, function and post-translational modification of normal and mutant huntingtin (htt) protein; gene expression profiles in HD cells and tissue; the neurotoxicy of mutant htt RNA; and the expression of an antisense transcript from the HD locus. We conclude that rationale therapeutics for HD is within sight, though many questions remain to be answered.

Original languageEnglish (US)
Title of host publicationHandbook of Clinical Neurology
PublisherElsevier B.V.
Pages15-28
Number of pages14
Volume144
DOIs
StatePublished - Jan 1 2017

Publication series

NameHandbook of Clinical Neurology
Volume144
ISSN (Print)0072-9752
ISSN (Electronic)2212-4152

Keywords

  • aggregation
  • antisense
  • gene transcription
  • Huntingtin
  • inclusion

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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