A defect in the mechanics of motors that build tiny cellular hairs is the basis of a serious genetic disorder, according to researchers at UC Davis and Simon Fraser University, Canada. Bardet-Biedl syndrome (BBS), affecting about one in 100,000 births, includes progressive blindness, extra or fused fingers and toes, kidney disease and learning difficulties, among other problems.
Products of genes linked to the syndrome coordinate mobile, cargo-carrying motor proteins within the cilia, tiny hairs found on the surface of cells, according to graduate student Guangshuo Ou, postgraduate researcher Joshua Snow and Jonathan Scholey, professor of molecular and cellular biology at UC Davis, and postdoctoral researcher Oliver Blacque and Professor Michel Leroux at Simon Fraser University.
Cilia are found on cells throughout the body, from the retina of the eye to the nose, lung and kidneys, said Ou, who is first author on the study. A variety of human diseases have been shown to be directly linked to defects in cilia, he said. The structure of cilia has been preserved across hundreds of millions of years of evolution -- allowing researchers to study essentially the same genes in an animal as simple as the soil roundworm, Caenorhabditis elegans.
Andy Fell | EurekAlert!
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