Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • In Brief
  • Published:

Neurodegenerative disease

Faulty splicing in Huntington's disease

Nature Reviews Neuroscience volume 15, page 564 (2014)Cite this article

Subjects

Huntington's disease (HD) is caused by an expanded CAG repeat in huntingtin (HTT) and is characterized by tau deposition. Tau can be alternatively spliced to produce isoforms containing either three or four microtubule-binding repeats, and CAG repeats have been shown to induce aberrant alternative splicing in favour of the four-repeat isoform, which is sufficient to induce neurodegeneration. The authors found that human HD brains had increased levels of the four-repeat tau isoform as well as higher overall levels of tau. These findings suggest that dysregulated alternative splicing plays an important part in HD pathology.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on SpringerLink
  • Instant access to the full article PDF.

USD 39.95

Prices may be subject to local taxes which are calculated during checkout

References

  1. Fernández-Nogales, M. et al. Huntington's disease is a four-repeat tauopathy with tau nuclear rods. Nature Med. http://dx.doi.org/10.1038/nm.3617 (2014)

Download references

Authors
  1. Sian Lewis
    View author publications

    Search author on:PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Lewis, S. Faulty splicing in Huntington's disease. Nat Rev Neurosci 15, 564 (2014). https://doi.org/10.1038/nrn3807

Download citation

  • Published:

  • Issue date:

  • DOI: https://doi.org/10.1038/nrn3807

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing