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The long and the short of aberrant ciliogenesis in Huntington disease

Jeh-Ping Liu1, Scott O Zeitlin

  • 1Department of Neuroscience, University of Virginia, Charlottesville, Virginia, USA.

The Journal of Clinical Investigation
|October 12, 2011
PubMed

Insights

Huntington disease (HD) involves a mutant huntingtin (HTT) gene. This study reveals normal Htt protein

Area of Science:

  • Neurodegenerative diseases
  • Molecular biology
  • Cell biology

Background:

  • Huntington disease (HD) is a dominantly inherited neurodegenerative disorder.
  • It is caused by a mutant huntingtin (HTT) gene with an expanded polyglutamine stretch.
  • The functions of normal Htt and the disease mechanisms of mutant Htt are not well understood.

Purpose of the Study:

  • To uncover a novel function for normal huntingtin (Htt) protein.
  • To investigate the role of mutant Htt in ciliogenesis and ciliary function in HD.

Main Methods:

  • Investigated the function of normal and mutant huntingtin (Htt) protein.
  • Examined the process of ciliogenesis (cilium formation).
  • Assessed ciliary function in the context of Huntington disease.

Main Results:

  • Discovered a novel function for normal huntingtin (Htt) protein in ciliogenesis.
  • Demonstrated that mutant Htt causes hypermorphic ciliogenesis (overactive cilium formation).
  • Identified ciliary dysfunction in Huntington disease models.

Conclusions:

  • Ciliary dysfunction may significantly contribute to Huntington disease symptoms.
  • Therapeutic strategies targeting ciliary function normalization could potentially ameliorate HD.
  • Further research is needed to understand the extent of ciliary dysfunction's role in HD.

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