New article by Bestcilia partner published in Nature!
Bestcilia partner, the laboratory of professor Heymut Omran (University of Münster, Germany) has noted a huge success: their article on mutations of a novel gene resulting in reduced generation of multiple motile cilia was published in the prominent scientific journal Nature.
Reduced generation of multiple motile cilia (RGMC) is a rare mucociliary clearance disorder with symptoms akin to those in primary ciliary diskinesia, including recurring infections of upper and lower respiratory tract. However, unlike in PCD, these symptoms are brought about by impairment of cilia generation rather than ciliary motility disorders.
The article investigates recessive loss-of-function and missense mutations in MCIDAS-encoding Multicilin and their consequences for cilia generation. The study revealed MCIDAS mutant cells showed merely one or two cilia per cell; additionally the cilia in affected cells proved to lack proteins related to ciliary motility A number of other related defects were found, including the defects of CCNO/FOXJ1 regulation for multiciliated cell differentiation. The study thus allows to identify Multicilin as a key regulator for both genes and pinpoint the 5q11 region, containing CCNO and MCIDAS genes, as the locus of RGMC.
Full article can be accessed here.