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[Press release] Why Scientists Are Blaming Cilia for Human Disease – Scientific American

Why Scientists Are Blaming Cilia for Human Disease – Scientific American.

Hairlike structures on cells may play a role in a host of genetic disorders, including kidney degeneration, vision impairment and even some cancers

Hairlike cilia may be at the roots of of several genetic disorders.
Image Courtesy of StudyBlue.com

Scientists now believe that a number of genetic disorders, from polycystic kidney disease to some forms of retinal degeneration, can ultimately be traced back to cilia—bristly, hairlike structures that dot cell surfaces.

In a review article published in the December 1 BioScience, George B. Witman, a cellular biologist at the University of Massachusetts Medical School, highlighted the growing body of evidence that abnormal or absent cilia can cause a wide range of human disorders, dubbed “ciliopathies.”

“Kidney disease and blindness, multiple digits, shortened bones or extremities, obesity—all of these things, it turns out, are due to defects in cilia,” he says. Experts add that the discovery of a common thread between these disparate disorders may eventually help researchers develop gene-based therapies to combat those conditions.

At first blush, cilia seem relatively innocuous. As they beat back and forth outside the cell, coordinated brushes of so-called motile cilia regulate fluid flow nearby. But almost all human cells also have one primary, or nonmotile, cilium that functions more like a molecular antenna. The primary cilium is an internally dynamic structure, packed with proteins that detect and convey important messages to its cell about the local environment. “The signaling machinery is concentrated in the cilia,” Witman says. “All in this very tightly controlled, constrained space.”

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December 12, 2014 - Posted by | Medical and Health Research News | , , , , , , , , , , ,

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