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

Cilia viewed under an electron microscope. - IMAGE VIA
  • image via
  • Cilia viewed under an electron microscope.

You probably haven't heard of primary ciliary dyskinesia. It's a genetic disorder that affects only one in 20,000 babies, mostly by causing chronic respiratory problems. What makes it even trickier is that, because it's so rare, and because respiratory problems are caused by a wide range of things, it's difficult to pinpoint, let alone cure.

But now a team of researchers at Washington University Medical School believe they've found one of the genetic errors that causes ciliary dyskenesia.

Ciliary dyskinesia affects the cilia, microscopic hairs that line the respiratory system, from the ears and nose to the lungs. Normally, the cilia beat constantly, about ten times per second, to clear out pollutants and bacteria. In patients with ciliary dyskinesia, though, the cilia work badly or not at all, which leads to the constant colds and snuffling and ear and sinus infections.

The disease can cause other, prenatal problems, too: While an embryo is still developing, the cilia behave like small antennae, picking up signals about which organs should go where. If the cilia aren't working properly, organs can end up in the wrong place.

To make matters even more confusing, doctors can't diagnose a case of ciliary dyskinesia just by looking at cilia under a microscope. Some patients have weird-looking cilia, but in other patients, the cilia look completely normal.

It would be so much easier if you could just do a genetic test to figure out if you've got ciliary dyskinesia or not.

Enter gene HEATR2.

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