Joachimiak Ewa, Włoga Dorota, Filipek Anna, Fabczak Hanna
Pracownia Cytoszkieletu i Biologii Rzęsek, Instytut Biologii Doświadczalnej im. Marcelego Nenckiego, Polskiej Akademii Nauk, Warszawa.
Pracownia Białek Wiążących Wapń, Instytut Biologii Doświadczalnej im. M. Nenckiego PAN, Warszawa.
Postepy Biochem. 2018 Dec 29;64(4):338-350. doi: 10.18388/pb.2018_148.
Ciliopathies are a group of genetic diseases caused by defects in the function of cilia, that are cellular processes composed of a microtubule-based core. Ciliopathies present with pathological changes in one or many organs at the same time. Symptoms of ciliopathies depend on the type of damaged tissues and organs. The most common are polycystic kidney and liver, blindness, dysfunction of neural tube, brain anomalies, mental retardation, abnormalities in skeletal system from polydactyly to abnormal short ribs and limbs, abnormalities in ectoderms, obesity, situs inversus, infertility and infections of the upper airways. Both basic and clinical studies provide data regarding novel ciliary proteins the lack or mutation of which are associated with cilia dysfunction and which, in consequence, may give rise to ciliopathies. The number of ciliopathies (35 known at present) is still increasing due to identification of additional genes (187 identified up to now) directly connected with these diseases. In this work, the most important mechanisms responsible for abnormal cilia formation and functioning, that constitute the primary cause of ciliopathies, are presented.
纤毛病是一组由纤毛功能缺陷引起的遗传性疾病，纤毛是由微管为核心组成的细胞结构。纤毛病同时在一个或多个器官出现病理变化。纤毛病的症状取决于受损组织和器官的类型。最常见的症状包括多囊肾和多囊肝、失明、神经管功能障碍、脑畸形、智力迟钝、从多指畸形到肋骨和四肢异常短小的骨骼系统异常、外胚层异常、肥胖、内脏反位、不孕以及上呼吸道感染。基础研究和临床研究均提供了有关新型纤毛蛋白的数据，这些蛋白的缺失或突变与纤毛功能障碍相关，进而可能引发纤毛病。由于直接与这些疾病相关的其他基因（截至目前已鉴定出187个）不断被发现，纤毛病的数量（目前已知有35种）仍在增加。在这项研究中，我们介绍了导致纤毛异常形成和功能障碍的最重要机制，而这些机制是纤毛病的主要病因。
