Rare gene mutations raise risk of early heart attack
A team of investigators from the Broad Institute, 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.