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Tuesday, October 16, 2012

Wash. U. Scientists Identify Gene That Causes Rare Respiratory Disease

Posted By on Tue, Oct 16, 2012 at 7:35 AM

Page 2 of 2

Two nose cells. The one on the left is normal -- it contains the protein manufactured HEATR2, shown in red. The one on the right does not, so the cilia (in green) don't beat. - WASHINGTON UNIVERSITY
  • Washington University
  • Two nose cells. The one on the left is normal -- it contains the protein manufactured HEATR2, shown in red. The one on the right does not, so the cilia (in green) don't beat.

Dr. Thomas Ferkol and his colleague Dr. Amjad Horani, both of whom specialize in pediatric pulmonology, sequenced the genes of two people with ciliary dyskinesia and compared them to the genes of their parents, who don't have the disease. (Everyone in the study is related; they belong to a large Amish clan spread across Missouri, Arkansas and Wisconsin, and the disease runs in the family: nine members have it.)

The problem, it appeared, came from a mutation in the gene known as HEATR2, which makes a protein that makes the cilia's "motors" run.

"In these patients," Ferkol explains, "the cilia motors are not assembled properly and they just sputter."

The doctors confirmed their hypothesis by doing some lab experiments in which they "silenced" HEATR2 in normal human cells and also in green algae. (The lab team included not just other pulmonologists, but an engineer who specializes in the mechanics of beating cilia and a geneticist who studies green algae.) The motors in the cilia in those cells shut down, too.

The discovery of HEATR2's involvement with ciliary dyskinesia brings the number of genes associated with the disease up to fifteen. That still only accounts for less than half the cases of ciliary dyskinesia, but it's progress. Ferkol also hopes that by finding out more about ciliary dyskinesia, he'll also be able to uncover a few more clues about what causes other respiratory problems.

"Many young children without primary ciliary dyskinesia experience chronic or repeated sinus or ear infections," he says. "It is possible that a more subtle error in one of more genes linked to this rare disorder may be at the root of these common conditions.

"Ultimately," he continues, "we want to identify all the mutations responsible for primary ciliary dyskinesia. In our dreams, we hope that one day we can correct ciliary defects that lead to respiratory disease. But in the short term, a more complete understanding of the genetics of primary ciliary dyskinesia will be a huge step forward toward improving diagnosis and allow us to better connect particular mutations with specific symptoms."

A report on the experiment appears in the latest issue of the American Journal of Human Genetics.

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