Yeni silyopati genlerinin araştırılıması

Cilia consist of microtubules in its internal structure and evolutionarily conserved an antenna-like organelle. The disease caused by defects in the cilia structure is called ciliopathy and Joubert syndrome is one of the ciliopathies. Patients display a range of symptoms, such as delayed intellectual and language development, hypotonia, ataxia, mental retardation, liver cyst, retinal defect/degeneration, genital defect, and cystic kidney. As a result of recent studies, 38 different genes have been associated with Joubert syndrome. In 2012, CEP41, an evolutionarily conserved gene, was associated with JS, one of the diseases of ciliopathy, but that study did not investigate the molecular mechanism of CEP41. In this study, the effect of ceph-41 mutation on the structure and function of cilia was investigated by using C. elegans, which is widely used as a model system in cilia studies.