Single gene mutation linked with significantly reduced heart attack risk

TU Munich's Heribert Schunkert

Scientists at the German Heart Center at TU Munich along with an international group of academic collaborators have found a gene mutation that may reduce the likelihood of a heart attack by 50%. The findings could lead to a new medicine that mimics the effects of the mutation, conferring protection against a heart attack.

"This discovery makes it considerably easier to develop new medications that simulate the effect of this mutation," said Heribert Schunkert, who heads the international collaboration. "This gives follow-on research aiming at reducing heart attacks in the future a concrete goal."

In their study they looked at 13,000 genes from a cohort of 200,000 participants which included both patients that have had heart attacks and healthy controls. Correlating gene mutations with coronary artery disease in these patients, they found that a mutation in the ANGPTL4 gene lowered triglycerides in their blood. Triglycerides are a risk factor for developing coronary artery disease and increasing the future risk of a heart attack or stroke.

Clearly, triglyceride levels in the blood are altered by certain diets and lifestyle choices, but now the research team show the ANGPTL4 gene can have direct implications. "At the core of our data is the lipoprotein lipase (LPL) enzyme. It causes the decomposition of triglycerides in the blood," said Jeanette Erdmann, who runs the Institute of Integrative and Experimental Genomics at the University of Lübeck.

The mutation they discovered in ANGPTL4 appears to disable the function of the LPL enzyme, which means the triglyceride value drops substantially compared to patients lacking the mutation.

"At the same time," said Erdmann, "we discovered that the body does not even need the ANGPTL4 gene and manages wonderfully without it. It seems to be superfluous."

The fickle nature of ANGPTL4, which otherwise appears to have no clear benefit to having a copy of the functional gene, may therefore represent a novel target in coronary artery disease--protecting patients from plaque formation and heart attacks.

- here's the release
- read the journal article

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