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Published on 12 December 2008

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Gene mutation “protects heart”


The discovery of a gene that protects the heart from the effects of fatty food could be the key to unlocking new treatments for heart disease, scientists believe.

Researchers in the US looked at the DNA of more than 800 genetically-similar members of the Old Order Amish community in Lancaster County, Pennsylvania.

They found that about 5% of the volunteers had a gene mutation – known as APOC3 – that reduced levels of triglyceride fats in the blood and helped prevent heart disease.

APOC3 produces a protein, apoC-III, that normally inhibits the breakdown of triglycerides – fatty particles which are associated with hardening and narrowing of the arteries.

People with the mutant version of APOC3 had about half the normal amount of apoC-III, meaning they were able to break down more triglycerides and clean them out of their blood.

Study leader Dr Toni Pollin, from the University of Maryland School of Medicine in Baltimore, said: “We found that about 5% of the Amish have a gene mutation that speeds up the breakdown of triglycerides.

“Our findings suggest that having a lifelong deficiency of apoC-III helps to protect people from developing cardiovascular disease.”

The findings of the study are reported in the journal Science.

Copyright Press Association 2008


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