Shriners docs discover cause of bone disease

Posted By: Richard Deschamps · 2/12/2013 4:21:00 PM

A discovery by Montreal researchers may hold a key to alleviating conditions like osteoporosis, severe tooth decay and spine fractures in teenagers.

Researchers at the Shriners Hospital say they've identified a genetic defect underlying a painful bone disease that causes some of these conditions.

The team discovered that a part of a gene called RUNX2 was duplicated, causing a condition referred to as MDMHB, which causes symptoms such as severe back pain, fractures of the spinal column, low bone density, and crumbling teeth.

Patients dealing with this condition, of which there are about 40 or so in Quebec, often have to deal with a lifetime of pain and discomfort.

"Now that we know the cause, we can identify patients with this disease earlier," says Dr. Frank Rauch, a pediatrician at the Shriners.

"We developed a way to diagnose this with a genetic test, so we can easily identify people who have the same thing...and we can make a diagnosis before they have any symptoms. So that make it possible to treat them earlier."

The findings, he says, may eventually lead to better, more effective treatments down the road.

"The treatment possibilities can be better targeted, because we now know where it's coming from," Dr. Rauch says.

The findings appear in this month's American Journal of Human Genetics.

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