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Related Experiment Videos

Molecular Pathogenesis in Huntington's Disease.

S N Illarioshkin1, S A Klyushnikov2,3, V A Vigont4

  • 1Research Center of Neurology, Moscow, 125367, Russia. snillario@gmail.com.

Biochemistry. Biokhimiia
|November 27, 2018
PubMed
Summary
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Huntington's disease (HD) is a neurodegenerative disorder caused by expanded CAG repeats in the HTT gene, leading to mutant huntingtin protein aggregation. This review details the molecular biology and pathogenetic mechanisms driving neurodegeneration in HD.

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder.
  • It presents with motor, cognitive, and psychiatric symptoms, leading to progressive decline and death.
  • HD is caused by expanded CAG repeats in the HTT gene, resulting in an elongated polyglutamine tract in huntingtin.

Purpose of the Study:

  • To present a modern overview of the molecular biology of Huntington's disease.
  • To emphasize the conformational changes of mutant huntingtin and cellular processing disturbances.
  • To discuss the main pathogenetic mechanisms of neurodegeneration in HD.

Main Methods:

  • Review of current literature on Huntington's disease molecular biology.
  • Analysis of pathogenetic mechanisms including protein conformational changes, cellular processing, and proteolytic stress.

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  • Detailed discussion of neurodegenerative pathways such as transcriptional failure, mitochondrial dysfunction, and inflammation.

    • Main Results:

    • Mutant huntingtin undergoes conformational changes and cellular processing disturbances.
    • Proteolytic stress contributes to neurodegeneration in affected neurons.
    • Key pathogenetic mechanisms include transcriptional failure, mitochondrial dysfunction, impaired axonal transport, and neuroinflammation.

    Conclusions:

    • Understanding the molecular basis of HD, particularly mutant huntingtin's behavior and cellular stress, is crucial.
    • Multiple interconnected pathways contribute to the neurodegenerative process in Huntington's disease.
    • Further research into these mechanisms may reveal therapeutic targets for HD.