The blind leading the obese: the molecular pathophysiology of a human obesity syndrome.
The blind leading the obese: the molecular pathophysiology of a human obesity syndrome.
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发表时间：
2010
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通讯作者：
V. Sheffield
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作者：
V. Sheffield
Bardet-Biedl综合征（BBS）是一种遗传异质性疾病，影响多个器官系统，并导致失明，肥胖，认知障碍和先天性缺陷。对这种疾病的病因学的兴趣部分源于BBS患者出现常见的临床问题，包括肥胖、糖尿病和高血压。目前已鉴定出12个独立引起BBS的基因。的异质性是由两个BBS复合物的存在，BBSome组成的七个已知的BBS蛋白，和BBS伴侣复合物组成的三个已知的BBS蛋白。BBSome的形成需要BBS伴侣复合物的功能。小鼠和斑马鱼的数据都支持BBS基因在纤毛功能，细胞内和鞭毛内运输中的作用。从这里描述的工作，BBS蛋白质的一个共同的主要功能已经出现，特别是微管为基础的细胞内运输的调解和调节。
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder affecting multiple organ systems and resulting in blindness, obesity, cognitive impairment, and congenital defects. Interest in the etiology of this disorder stems, in part, from the fact that patients with BBS develop common clinical problems, including obesity, diabetes and hypertension. Twelve genes independently causing BBS have been identified. The heterogeneity is explained by the existence of two BBS complexes, the BBSome consisting of seven known BBS proteins, and the BBS chaperone complex consisting of three known BBS proteins. The formation of the BBSome requires the function of the BBS chaperone complex. Both mouse and zebrafish data support a role for BBS genes in cilia function, and in intracellular and intraflagellar trafficking. From the work described here, a common primary function of BBS proteins has emerged, specifically the mediation and regulation of microtubule-based intracellular transport.