The Ciliopathies: An Emerging Class Of Human Genetic Disorders

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, n.a.garkusha@utmn.ru

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.

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