US studies genes and heart disease risks

NEW YORK — Early heart disease ran in Rick Del Sontro’s family, and every time he went for a run, he was scared his heart would betray him. So he did all he could to improve his odds. He kept himself lean, stayed away from red meat, spurned cigarettes, and exercised intensely, even completing an Ironman Triathlon.

But after his sister, just 47 years old, found out she had advanced heart disease, Del Sontro, then 43, and the president of Zippy Shell, a self-storage company, went to a cardiologist.

An X-ray of his arteries revealed the truth. Like his grandfather, his mother, his four brothers and two sisters, he had heart disease. (One brother, Michael, has not received a diagnosis of the disease.)


He and his extended family have joined an extraordinary federal research project that is using genetic sequencing to find factors that increase the risk of heart disease beyond the usual suspects — high cholesterol, high blood pressure, smoking, and diabetes.

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The aim is to see if genetics can explain why heart disease strikes apparently healthy people. The hope is that a family like Del Sontro’s could be a Rosetta stone for heart disease — that their arteries’ profound but mysterious propensity to clog could reveal forces that do the same in millions of others.

‘‘We don’t know yet how many pathways there are to heart disease,’’ said Dr. Leslie Biesecker, who directs the study Del Sontro joined. ‘‘That’s the power of genetics. To try and dissect that.’’

Scientists are studying the genetic makeup of each member of the Del Sontro family, searching for telltale mutations or aberrations in the long sequence of 3 billion chemicals that comprise human DNA.

“With the right family, you may need only one family,’’ said Dr. Robert C. Green of Harvard Medical School who studies genetics and medicine and is not involved in the study.

New York Times