The Ciliopathies: An Emerging Class Of Human Genetic Disorders

Journal «Language & Science» UTMN.


№4 2015. 03.00.00 БИОЛОГИЧЕСКИЕ НАУКИ

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,


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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