Release:№4 2015. 03.00.00 БИОЛОГИЧЕСКИЕ НАУКИ
About the authors:Garkusha Nadezhda Anatolievna,
Candidate of Pedagogic Sciences, University of Tyumen, Institute of Mathematics and Computer Sciences, Foreign Languages and Intercultural Professional Communication Department, Associate Professor, firstname.lastname@example.org
Abstract:Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell surfaces to perform diverse biological roles, including whole-cell locomotion; movement of fluid; chemo-, mechano-, and photosensation; and sexual reproduction. Consistent with their stringent evolutionary conservation, defects in cilia are associated with a range of human diseases, such as primary ciliary dyskinesia, hydrocephalus, polycystic liver and kidney disease, and some forms of retinal degeneration. Сiliary defects can lead to a broader set of developmental and adult phenotypes, with mutations in ciliary proteins now associated with nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome. The molecular data linking seemingly unrelated clinical entities are beginning to highlight a common theme, where defects in ciliary structure and function can lead to a predictable phenotypic pattern that has potentially predictive and therapeutic value.
References:1. Afzelius V. A. 1976. Chelovecheskij sindrom vyzvanyj nepodvizhnymi resnichkami. Nauka 193:317–19 [A human syndrome caused by immotile cilia. Science 193:317–19]