Gene defect is studied as link to heart disease

MINNEAPOLIS -- A single defect in a gene known to play a role in cancer may also be a piece of the puzzle that links heart disease risk factors such as hypertension, high cholesterol, and diabetes, researchers said.

Doctors have known that the features of heart disease are interrelated with one element, such as high blood pressure, putting people at risk for other symptoms and cardiac complications such as heart attacks. But they have struggled to pinpoint a common cause.

Researchers studying a family of Iranian ancestry with a history of early and deadly heart disease have uncovered a rare gene defect that may hold the answer. Family members with a mutation in the LRP6 gene had significantly higher "bad" cholesterol, blood pressure, and triglycerides and were more likely to be diabetic.

The report is being published today in the journal Science.

The first patient in the group was a slim non smoker who had a heart attack at age 48 and underwent bypass surgery.

Among 58 blood relatives, 23 died from heart disease at an average age of 52. Those without heart disease died at about age 81.

There was also a strong association between heart disease and osteoporosis in the family, said Richard Lifton, senior author of the paper and chairman of genetics at Yale School of Medicine.

That link raises the possibility that altered activity of the gene may also account for recent reports of a possible link between the bone-weakening condition and heart disease , he said.