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Huntington's disease

J F Gusella1, M E MacDonald

  • 1Molecular Neurogenetics Unit, Massachusetts General Hospital East, Charlestown 02129, USA.

Seminars in Cell Biology
|February 1, 1995
PubMed
Summary
This summary is machine-generated.

Researchers identified an expanded CAG repeat in a novel gene as the cause of Huntington's disease (HD) symptoms. This genetic defect likely leads to neuronal loss through its polyglutamine segment in huntingtin protein.

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Huntington's disease (HD) is a neurodegenerative disorder characterized by specific neurological symptoms and pathology.
  • In 1993, an unstable, expanded trinucleotide repeat within a novel gene was discovered on HD chromosomes.

Purpose of the Study:

  • To review the behavior of the expanded CAG repeat in HD.
  • To summarize accumulated knowledge on the potential mechanisms of action for the expanded repeat in HD pathogenesis.

Main Methods:

  • Literature review of experimental studies on the expanded CAG repeat in HD.
  • Analysis of genetic and biochemical data related to HD.

Main Results:

  • The expanded CAG repeat is the near-universal cause of HD's characteristic symptoms and pathology.

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  • The genetic lesion likely exerts its effects through the polyglutamine segment in the huntingtin protein.

    • Conclusions:

    • The expanded CAG repeat is central to HD pathogenesis.
    • Further research is needed to fully elucidate the biochemical basis of selective neuronal loss in HD.