Investigating a Gene’s Impact on Heart Disease

March 22, 2016

Dr. Kathiresan (pictured) and his team of investigators, led by Pradeep Natarajan, MD, and research coordinator Erina Kii in the Center for Human Genetic Research at Massachusetts General Hospital, are looking for a needle in a haystack.

Sekar Kathiresan, MD, uses the Partners Biobank to conduct research that would otherwise be impossible using traditional research methods.

Dr. Kathiresan

The small but devoted team is trying to locate patients with one variant of a specific gene, APOC3. The abnormality of this gene only affects about 1 in 150 people.

Locating and studying these individuals could have tremendous impact on how heart disease is treated in the future. Through his lab’s research, Dr. Kathiresan found that people with this single dysfunctional APOC3 gene variant were naturally protected against heart disease and hopes to study this further by working with individuals with this variant.

Initial observations when looking at the APOC3 gene showed people with the variant also had a low level of triglycerides–a type of unhealthy fat that circulates in the blood; elevated levels have been shown to increase the risk of heart disease and heart attack. By studying patients who have naturally low triglyceride levels due to the APOC3 defect, the team hopes to develop an inhibitor that will mirror the effect in other patients as well.

This is the first time Drs. Kathiresan and Natarajan will be working with Biobank participants for a research study. When asked whether this research would be possible without the samples from the Partners Biobank, Dr. Natarajan definitively said “no.”

“It is possible to work with collaborators globally and have access to blood and potentially tissue samples. It is, however, the local Partners Biobank that gives our team access to actual patients based on specific genotypes,” said Dr. Natarajan.

“Having access to this local population is key to answering some of the questions about how this gene variation works to block or lower triglycerides in humans,” he said.

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