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Multiple clinical features of Huntington's disease correlate with mutant HTT gene CAG repeat lengths and

Sonia Podvin1, Holly T Reardon1, Katrina Yin1

  • 1Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California, 9500 Gilman Drive, MC0719, La Jolla, San Diego, CA, 92093-0719, USA.

Journal of Neurology
|June 30, 2018
PubMed

Insights

Huntington's disease (HD) is a fatal neurodegenerative disorder linked to CAG repeat expansions in the HTT gene. This review details how HTT CAG repeat length correlates with HD's diverse clinical symptoms and neurodegeneration.

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder.
  • It is caused by expanded CAG triplet repeats in the HTT gene.
  • Clinical manifestations in HD patients correlate with the number of CAG repeats.

Purpose of the Study:

  • To review the significant correlations between HTT CAG repeat length and various clinical features of Huntington's disease.
  • To understand the genetic basis of HD disabilities.
  • To explore the relationship between HTT gene expression patterns and neurodegeneration in HD.

Main Methods:

  • Literature review of studies correlating HTT CAG repeat length with clinical HD features.
  • Analysis of quantitative HTT gene expression patterns in human brain regions.

Main Results:

  • HTT CAG repeat length is significantly correlated with age of onset, motor dysfunction, cognitive deficits, and reduced daily living capacity in HD patients.
  • Weight loss and increased risk of death are also associated with higher CAG repeat numbers.
  • HTTexpression patterns are observed in brain regions affected by HD neurodegeneration.

Conclusions:

  • The number of CAG repeats in the HTT gene is a key determinant of Huntington's disease clinical severity.
  • Further research into molecular mechanisms linking mutant HTT CAG expansions to HD pathology is crucial.
  • Understanding these relationships will aid in developing targeted therapies for HD patients.

Keywords:
Cognition disordersHuntington’s diseaseMotor disordersNeurodegenerationPolyglutamine

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