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The Bardet-Biedl syndrome is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.[1]
The syndrome is named after Georges Bardet and Arthur Biedl.[2]
Two forms have been identified:
The first known case was reported by Laurence and Moon in 1866 at the Ophthalmic Hospital in South London. Laurence-Moon-Biedl-Bardet syndrome are no longer considered as valid terms in that patients of Laurence and Moon had paraplegia but no polydactyly and obesity which are the key elements of the Bardet-Biedl the syndrome. Laurence-Moon syndrome is usually considered a separate entity. However, some recent research suggests that the two conditions may not be distinct.[3]
The detailed biochemical mechanism that leads to BBS is still unclear. At this moment, twelve genes (BBS1, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS8, BBS9, BBS10, BBS11, BBS12) that are responsible for the disease when mutated, have been cloned.[citation needed] The gene products encoded by these BBS genes, called BBS proteins, are located in the basal body and cilia of the cell.[7]
Using the round worm C. elegans as a model system, biologists found that BBS proteins are involved in a process called Intraflagellar transport (IFT), a bi-directional transportation activity within the cilia along the long axis of the ciliary shaft, that are essential for the formation and maintenance of cilia[8]. Recent biochemical analysis of human BBS proteins revealed that BBS proteins are assembled into a multiple protein complex, called “BBSome”. BBSome is proposed to be responsible for transporting intracellular vesicles to the base of the cilia and to play an important role in the ciliary function. Since abnormalities of cilia are known to be related to a wide range of disease symptoms including those commonly seen in BBS patients, it is now widely accepted that mutated BBS genes affect normal cilia functions, which, in turns, cause BBS.[citation needed]
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