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Huntington's Disease

Steven Finkbeiner1

  • 1Gladstone Institute of Neurological Disease, Taube-Koret Center for Huntington's Disease Research, Departments of Neurology and Physiology, University of California, San Francisco, 94158, USA. sfinkbeiner@gladstone.ucsf.edu

Cold Spring Harbor Perspectives in Biology
|March 29, 2011
PubMed

Insights

Huntington's disease (HD) is an inherited neurodegenerative disorder caused by a toxic expansion of polyglutamine in the huntingtin protein. Strategies to reduce protein misfolding and improve clearance slow disease progression in HD models.

Area of Science:

  • Neurodegenerative diseases
  • Genetics
  • Protein conformational diseases

Background:

  • Huntington's disease (HD) is a common inherited neurodegenerative disorder.
  • It is characterized by motor, cognitive, and emotional deficits.
  • A mutation causing polyglutamine (polyQ) expansion in the huntingtin (Htt) protein is responsible for HD, leading to toxic functions and neurodegeneration.

Purpose of the Study:

  • To explore Huntington's disease (HD).
  • To present evidence supporting HD as a conformational disease.

Main Methods:

  • Review of existing literature on Huntington's disease.
  • Analysis of the role of protein misfolding and aggregation in HD pathogenesis.

Main Results:

  • The polyglutamine expansion in huntingtin protein leads to aggregation and accumulation.
  • Mitigating protein misfolding and enhancing clearance of misfolded proteins show promise in slowing HD progression in models.

Conclusions:

  • Huntington's disease is fundamentally a conformational disease.
  • Targeting protein misfolding and aggregation pathways offers therapeutic potential for HD.

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