Huntington's Disease and Other Polyglutamine Repeat Diseases: Molecular Mechanisms and Pathogenic Pathways. Molecular Mechanisms and Pathogenic Pathways.

Book Section

Polyglutamine diseases are inherited, fatal neurodegenerative disorders caused by genomic expansion of exonic cytosine-adenine-guanine (CAG) trinucleotide repeats. These diseases include Huntington's disease, spinal and bulbar muscular atrophy, dentatorubral-pallidoluysian atrophy, and spinocerebellar ataxia types 1, 2, 3, 6, 7, and 17, each due to CAG expansion in a different gene. Common themes regarding mechanisms of neurodegeneration include protein aggregation, intracellular protein degradation systems, proteolytic processing, mitochondrial dysfunction, nuclear trafficking and subcellular localization, transcriptional dysregulation, and posttranslational modifications. Strategies for developing therapeutics for this class of neurodegenerative diseases include RNA interference, antisense oligonucleotides, zinc finger proteins, and genome editing.

Full Text

Duke Authors

Cited Authors

  • Dickey, AS; La Spada, AR

Published Date

  • April 4, 2018

Book Title

  • The Molecular and Cellular Basis of Neurodegenerative Diseases: Underlying Mechanisms

Start / End Page

  • 145 - 188

International Standard Book Number 13 (ISBN-13)

  • 9780128113042

Digital Object Identifier (DOI)

  • 10.1016/B978-0-12-811304-2.00007-9

Citation Source

  • Scopus