The long and the short of aberrant ciliogenesis in Huntington disease
Jeh-Ping Liu, Scott O. Zeitlin
Jeh-Ping Liu, Scott O. Zeitlin
Published October 10, 2011
Citation Information: J Clin Invest. 2011;121(11):4237-4241. https://doi.org/10.1172/JCI60243.
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Commentary

The long and the short of aberrant ciliogenesis in Huntington disease

Abstract

Huntington disease (HD) is a dominantly inherited neurodegenerative disorder that is caused by a mutant huntingtin (HTT) gene encoding a version of the Htt protein with an expanded polyglutamine stretch. Although the HTT gene was discovered more than 18 years ago, the functions of normal Htt and the mechanisms by which mutant Htt causes disease are not well defined. In this issue of the JCI, Keryer et al. uncovered a novel function for normal Htt in ciliogenesis and report that mutant Htt causes hypermorphic ciliogenesis and ciliary dysfunction. These observations suggest that it is now critical to understand the extent to which ciliary dysfunction contributes to the different symptoms of HD and to determine whether therapeutic strategies designed to normalize ciliary function can ameliorate the disease.

Authors

Jeh-Ping Liu, Scott O. Zeitlin

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Figure 1

Structure of primary and motile secondary cilia.

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Structure of primary and motile secondary cilia. Primary and motile seco...
Primary and motile secondary cilia differ in the structure of their axoneme. Primary cilia have an axoneme composed of nine pairs of microtubules (9 + 0 axoneme), whereas the axoneme of motile secondary cilia also includes a central pair of microtubules (9 + 2 axoneme). Each of the nine outer pairs of microtubules in the axoneme of motile secondary cilia have inner and outer dynein arms that connect with an adjacent pair of outer microtubules and radial spokes connecting them with the central pair of microtubules. At the base of primary cilia is a basal body composed of a centrosome (centriole plus surrounding PCM). Motile secondary cilia also have basal bodies consisting of centrioles and PCM.