Scientists gain new insights into 'antenna' of human cells

Scientists from the University of Leeds have uncovered the most comprehensive list yet of genes implicated in a group of common inherited diseases.

The research, published in Nature Cell Biology today, means that these disorders, known as ciliopathies, can be diagnosed more quickly and could lead to new treatments for patients.

Ciliopathies are caused by defects in , finger-like projections from cells that act as microscopic "antenna" to detect and respond to chemical changes or fluid flow outside the cell.

Kidney disease, which often leads to kidney failure, is a common complication of ciliopathies and is a significant cause of childhood disease and death.

One in every 1,000 people is born with a ciliopathy, which means there are currently about 30,000 affected people in the UK alone.

The research was led by the University of Leeds in collaboration with colleagues from Nijmegen in the Netherlands and about 40 other institutions worldwide.

Professor Colin A. Johnson, Professor of Medical and Molecular Genetics in the School of Medicine at the University of Leeds, said: "This research gives us the best list yet of the needed to make cilia. This is an important issue in biology, but it also directly benefits patients because we can find new genetic causes for ciliopathies. We've found some completely unexpected cell processes that are linked to these diseases which should help in the search for future treatments."

Professor Ronald Roepman, of the Radboud University Medical Center, Nijmegen, added: "We confirmed that each of the on the list were important for cilia using an independent method. We then focused in on some of the biochemical processes that are required for a functioning cilium. But the broader picture still has a wealth of similar opportunities for others in the research community."

Explore further

New technique provides novel approach to diagnosing ciliopathies

More information: An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes, DOI: 10.1038/ncb3201
Journal information: Nature Cell Biology

Citation: Scientists gain new insights into 'antenna' of human cells (2015, July 13) retrieved 23 June 2021 from
This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no part may be reproduced without the written permission. The content is provided for information purposes only.

Feedback to editors

User comments