The long and the short of aberrant ciliogenesis in Huntington disease.
The long and the short of aberrant ciliogenesis in Huntington disease.
复制标题
亨廷顿病中异常纤毛发生的长与短。
DOI：
10.1172/jci60243
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发表时间：
2011
期刊：
影响因子：
--
通讯作者：
Zeitlin,ScottO
中科院分区：
文献类型：
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作者：
Liu,Jeh-Ping;Zeitlin,ScottO
亨廷顿病（HD）是一种显性遗传性神经退行性疾病，其由突变亨廷顿（HTT）基因引起，所述突变亨廷顿基因编码具有扩展的多聚谷氨酰胺延伸的Htt蛋白的形式。虽然HTT基因发现于18年前，但正常Htt的功能和突变Htt引起疾病的机制尚未得到很好的定义。在这一期的JCI中，Keryer等人发现了正常Htt在纤毛发生中的新功能，并报告突变的Htt会导致超形态纤毛发生和纤毛功能障碍。这些观察结果表明，现在至关重要的是要了解在何种程度上睫状体功能障碍有助于HD的不同症状，并确定是否设计的治疗策略，使睫状体功能正常化，可以改善疾病。
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 theHTTgene 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 theJCI, 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.