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A team of investigators from the ӳ����ý, Massachusetts General Hospital and other leading biomedical research institutions has pinpointed rare mutations in a gene called APOA5 that increase a person’s risk of having a heart attack early in life. These mutations disable the APOA5 gene and also raise the levels in the blood of triglyceride-rich lipoproteins, a type of fat. The researchers’ findings, together with other recent genetic discoveries — specifically, the identification of protective mutations in the APOC3 gene that lower triglyceride levels and the risk of heart attack — refocus attention on abnormal triglyceride metabolism as an important risk factor for heart attack at any age. The work — the largest exome sequencing study yet published for any disease — appears this week in the journal Nature.

By combing through the DNA of more than 100,000 people, researchers at ӳ����ý, Massachusetts General Hospital, and elsewhere have identified rare, protective genetic mutations that lower the levels of LDL cholesterol — the so-called “bad” cholesterol — in the blood. The researchers’ findings, which appear online November 12 in the reveal that these naturally occurring mutations also reduce a person’s risk of coronary heart disease by about 50 percent. Remarkably, the mutations disrupt a gene called Niemann-Pick C1-Like 1 (NPC1L1) — the molecular target of the FDA-approved drug ezetimibe, often used as a treatment for high LDL.

By scouring the DNA of thousands of patients, researchers at the ӳ����ý, Massachusetts General Hospital, and their colleagues have discovered four rare gene mutations that not only lower the levels of triglycerides, a type of fat in the blood, but also significantly reduce a person’s risk of coronary heart disease — dropping it by 40 percent. The mutations all cripple the same gene, called APOC3, suggesting a powerful strategy in developing new drugs against heart disease. 

A team led by ӳ����ý researchers has found that triglycerides - the fats that our bodies burn for fuel - play a causal role in coronary artery disease (CAD), the most common form of heart disease and the leading cause of death in the United States. , which leverages new genetic data from a , suggests that lowering triglyceride levels through treatment may help reduce the risk of CAD. The findings appear this week in Nature Genetics.