Cilia and disease
Cilia and disease
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DOI：
10.1016/j.gde.2005.04.008
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发表时间：
2005-06-01
影响因子：
4
通讯作者：
Goodship, JA
中科院分区：
文献类型：
--
作者：
Eley, L;Yates, LM;Goodship, JA
纤毛根据其微管成分分为9+2（运动纤毛）和9+0（初级纤毛）。9+2纤毛的破坏，使粘液穿过呼吸道上皮，导致鼻炎，鼻窦炎和支气管扩张。大约一半的原发性睫状体运动障碍（PCD）患者有逆位，提供了左右不对称和纤毛之间的联系。9+0纤毛在胚胎结也是能动的，并参与建立左右不对称。然而，大多数9+0纤毛充当天线，感知外部环境。肾单位主细胞的9+0纤毛缺陷导致肾脏囊性疾病。在视网膜的视杆细胞和视锥细胞中，感光盘和视色素在内段合成，并通过狭窄的9+0连接纤毛运输到远端外段;该过程中的缺陷导致视网膜色素变性。虽然初级纤毛在某些器官中的功能正在被阐明，但在许多其他器官中，它们根本没有被研究过。可能还有更多与纤毛相关的疾病有待发现。
Cilia are classified according to their microtubule components as 9+2 (motile) and 9+0 (primary) cilia. Disruption of 9+2 cilia, which move mucus across respiratory epithelia, leads to rhinitis, sinusitis and bronchiectasis. Approximately half of the patients with primary ciliary dyskinesia (PCD) have situs inversus, providing a link between left-right asymmetry and cilia. 9+0 cilia at the embryonic node are also motile and involved in establishing left-right asymmetry. Most 9+0 cilia, however, act as antennae, sensing the external environment. Defective 9+0 cilia of principal cells of the nephron cause cystic diseases of the kidney. In the rods and cones of the retina, photoreceptor discs and visual pigments are synthesized in the inner segment and transported to the distal outer segment through a narrow 9+0 connecting cilium; defects in this process lead to retinitis pigmentosa. Although the function of primary cilia in some organs is being elucidated, in many other organs they have not been studied at all. It is probable that many more cilia-related disorders remain to be discovered.