Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development

Abstract

The ciliopathies are a group of related inherited diseases characterized by malformations in organ development. The diseases affect multiple organ systems, with kidney, skeleton, and brain malformations frequently observed. Research over the last decade has revealed that these diseases are due to defects in primary cilia, essential sensory organelles found on most cells in the human body. Here we discuss the genetic and cell biological basis of one of the most severe ciliopathies, Meckel-Gruber syndrome, and explain how primary cilia contribute to the development of the affected organ systems.

Keywords: :

• cilia
• ciliopathy
• signalling
• Hedgehog
• Wnt
• skeleton
• kidney
• brain
• Meckel-Gruber syndrome
• Joubert syndrome
• nephronophthisis

10.4161/org.27375

Disclosure of Potential Conflicts of Interest

No potential conflicts of interest were disclosed.

Acknowledgments

We would like to thank Marie Harrisingh (University of Edinburgh) for helpful comments on the manuscript. Work in our laboratory is funded by the Medical Research Council.