Ciliopathies.
Ciliopathies.
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DOI：
10.1056/nejmra1010172
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发表时间：
2011-04-21
期刊：
影响因子：
--
通讯作者：
Katsanis N
中科院分区：
文献类型：
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作者：
Hildebrandt F;Benzing T;Katsanis N
多种发育和退行性单基因疾病，如多囊肾病、肾小球肾炎、视网膜色素变性、Bardet-Biedl综合征、Joubert综合征和Meckel综合征可归类为纤毛疾病-这是一个最近的概念，描述了以称为纤毛的毛状细胞器功能障碍为特征的疾病。在这些单基因疾病中，大多数改变的蛋白质在纤毛-中心体复合体水平上发挥功能，该复合体代表了自然界对外部信号进行细胞检测和管理的通用系统。纤毛是一种以微管为基础的结构，几乎存在于所有脊椎动物细胞中。它们起源于一个基本体，一个修饰的中心体，它是在有丝分裂过程中形成纺锤体极的细胞器。纤毛-中心体复合体在大多数组织的正常功能中起着重要作用，这似乎是纤毛疾病涉及多个器官系统的原因。在这篇综述中，我们考虑纤毛在疾病中的作用。
Diverse developmental and degenerative single-gene disorders such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, the Bardet–Biedl syndrome, the Joubert syndrome, and the Meckel syndrome may be categorized as ciliopathies — a recent concept that describes diseases characterized by dysfunction of a hairlike cellular organelle called the cilium. Most of the proteins that are altered in these single-gene disorders function at the level of the cilium–centrosome complex, which represents nature’s universal system for cellular detection and management of external signals. Cilia are microtubule-based structures found on almost all vertebrate cells. They originate from a basal body, a modified centrosome, which is the organelle that forms the spindle poles during mitosis. The important role that the cilium–centrosome complex plays in the normal function of most tissues appears to account for the involvement of multiple organ systems in ciliopathies. In this review, we consider the role of the cilium in disease.