Cilia, primary ciliary dyskinesia and molecular genetics.
Cilia, primary ciliary dyskinesia and molecular genetics.
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DOI：
10.1016/j.prrv.2003.09.005
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发表时间：
2004-03-01
影响因子：
5.8
通讯作者：
Meeks, M
中科院分区：
文献类型：
--
作者：
Chodhari, R;Mitchison, H M;Meeks, M
原发性纤毛运动障碍 (PCD) 是一种表型和遗传异质性疾病，其中已鉴定出三种基因突变。主要缺陷在于纤毛的超微结构或功能，纤毛是一种高度复杂的细胞器，在结构上与精子和原生动物的鞭毛相关。 PCD的临床特征包括反复鼻窦肺部感染、生育力低下和偏侧性缺陷；后者是由于胚胎节点的纤毛功能障碍所致。人类基因组序列的完成加速了疾病基因的鉴定和表征，目前PCD的分子策略包括候选基因分析、定位克隆、模式生物分析和蛋白质组分析。这些基因的鉴定将为了解纤毛组装和功能的分子机制以及决定人类左右轴的途径提供新的见解。这也可能有助于开发诊断、预防和治疗 PCD 的新方法。
Primary ciliary dyskinesia (PCD) is a phenotypically and genetically heterogeneous condition in which three genetic mutations have already been identified. The primary defect is in the ultrastructure or function of cilia, highly complex organelles that are structurally related to the flagella of sperm and protozoa. The clinical features of PCD include recurrent sinopulmonary infections, subfertility and laterality defects; the latter due to ciliary dysfunction at the embryological node. Completion of the human genome sequence has accelerated the identification and characterisation of disease genes, and the current molecular strategy in PCD includes candidate gene analysis, positional cloning, model organism analysis and proteomic analysis. The identification of these genes will provide new insights into the molecular mechanisms involved in the assembly and function of cilia and the pathway that determines left-right axis in man. This may also allow the development of new methods for diagnosis, prevention and treatment of PCD.