Magdalena Cardenas-Rodriguez (MSc) is a Ph.D. student in the “Program for the development of basic sciences” (PEDECIBA) from the Universidad de la Republica, Uruguay. She is conducting her thesis work in Dr. Badano's laboratory working on the functional characterization of BBS and BBS modifier proteins.
Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies†
Article first published online: 28 OCT 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Cilia and Ciliopathies
Volume 151C, Issue 4, pages 263–280, 15 November 2009
How to Cite
Cardenas-Rodriguez, M. and Badano, J. L. (2009), Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies. Am. J. Med. Genet., 151C: 263–280. doi: 10.1002/ajmg.c.30227
How to cite this article: Cardenas-Rodriguez M, Badano JL. 2009. Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies. Am J Med Genet Part C Semin Med Genet 151C:263–280.
- Issue published online: 28 OCT 2009
- Article first published online: 28 OCT 2009
- Manuscript Accepted: 14 SEP 2009
- Manuscript Received: 15 JUN 2009
- Genzyme Renal Innovations Program (GRIP)
- Agencia Nacional de Investigación e Innovación (ANII)
- Programa de Apoyo Sectorial a la Estrategia Nacional de Innovación - INNOVA URUGUAY. Grant Number: DCI-ALA/2007/19.040
- cystic kidney disease;
- retinal dystrophy;
Motile cilia have long been known to play a role in processes such as cell locomotion and fluid movement whereas the functions of primary cilia have remained obscure until recent years. To date, ciliary dysfunction has been shown to be causally linked to a number of clinical manifestations that characterize the group of human disorders known as ciliopathies. This classification reflects a common or shared cellular basis and implies that it is possible to associate a series of different human conditions with ciliary dysfunction, which allows gaining insight into the cellular defect in disorders of unknown etiology solely based on phenotypic observations. Furthermore, to date we know that the cilium participates in a number of biological processes ranging from chemo- and mechanosensation to the transduction of a growing list of paracrine signaling cascades that are critical for the development and maintenance of different tissues and organs. Consequently, the primary cilium has been identified as a key structure necessary to regulate and maintain cellular and tissue homeostasis and thus its study is providing significant information to understand the pathogenesis of the different phenotypes that characterize these human conditions. Finally, the similarities between different ciliopathies at the phenotypic level are proving to be due to their shared cellular defect and also their common genetic basis. To this end, recent studies are showing that mutations in a given ciliary gene often appear involved in the pathogenesis of more than one clinical entity, complicating their genetic dissection, and hindering our ability to generate accurate genotype–phenotype correlations. © 2009 Wiley-Liss, Inc.