Scientists Find Way to Improve Disease Detection
Experiment in mice reads genes to find warnings of heart defect.
June 7, 2007 — -- They say what you don't know can't hurt you, but when it comes to heart disease, ignorance can be fatal.
This is especially true of hypertrophic cardiomyopathy (HCM), a genetic disease that thickens the heart muscle. About one in every 500 people have HCM, but the disease expresses itself differently, even among people in the same family.
Now researchers have discovered a new way to investigate HCM and other genetic diseases. In a study released today, scientists at Brigham and Women's Hospital and Harvard Medical School demonstrate a new procedure that measures changes in gene activities well before the disease itself appears.
For now, it's only been tried in mice, but it could eventually be used for human heart patients.
"It's not possible to predict what is going to happen with any individual patient -- a substantial portion do have symptoms or require a major treatment," said Barry Maron, the director of Hypertrophic Cardiomyopathy Center at the Minneapolis Heart Institute Foundation.
"It is the most common reason for sudden death among young people," he said. He estimates someone dies of this heart problem every three days in the United States. The number is probably higher, but, as Maron points out, "We don't have a mandatory reporting system."
The medical community doesn't fully understand why some people die in early life and others live much longer.
The new study should help change that.
Jon Seidman, professor of Genetics at Harvard Medical School and co-author of the study, said a new technique called PMAGE (Polony Multiplex Analysis of Gene Expression) is a way of defining RNA profiles in cells and tissues. "As a research tool it will be very valuable for dissecting complicated developmental processes," he said. Although their study focused on heart disease, the methodology translates to any disease involving a change in cell physiology, including diabetes, kidney disease or cancer.
The study is published in Friday's edition of the journal Science.
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