Zaghloul Norann A, Katsanis Nicholas
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
J Clin Invest. 2009 Mar;119(3):428-37. doi: 10.1172/JCI37041. Epub 2009 Mar 2.
Bardet-Biedl syndrome (BBS) is a multisystemic disorder typified by developmental and progressive degenerative defects. A combination of genetic, in vitro, and in vivo studies have highlighted ciliary dysfunction as a primary cause of BBS pathology, which has in turn contributed to the improved understanding of the functions of the primary cilium in humans and other vertebrates. Here we discuss the evidence linking the clinical BBS phenotype to ciliary defects, highlight how the genetic and cellular characteristics of BBS overlap with and inform other ciliary disorders, and explore the possible mechanistic underpinnings of ciliary dysfunction.
巴德-比德尔综合征(BBS)是一种多系统疾病,其特征为发育性和进行性退行性缺陷。基因、体外和体内研究相结合,突出了纤毛功能障碍是BBS病理的主要原因,这反过来又有助于增进对人类和其他脊椎动物初级纤毛功能的理解。在此,我们讨论将临床BBS表型与纤毛缺陷联系起来的证据,强调BBS的遗传和细胞特征如何与其他纤毛疾病重叠并为其提供信息,并探讨纤毛功能障碍可能的机制基础。