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Thread: Amish APOC3 Gene Mutation 'Limits Heart Disease'

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    Amish APOC3 Gene Mutation 'Limits Heart Disease'

    A gene mutation which protects the heart against a high-fat diet has been found in the Amish population.

    Researchers found 5% of the US Amish population in Lancaster, Pennsylvania have a mutation in a protein which breaks down fatty particles.

    Those with the mutation had higher levels of "good" HDL-cholesterol and lower levels of "bad" LDL-cholesterol, the journal Science reported.

    It is hoped the finding will lead to new therapies to reduce cholesterol.

    The researchers used blood samples from 800 volunteers in the Old Order Amish community to look for DNA markers that might be associated with levels of fat particles called triglycerides in the blood stream.

    High blood levels of triglycerides, one of the most common types of fat in food, have been linked to heart disease.

    They found a mutation in the APOC3 gene, which encodes a protein - apoC-III - that inhibits the breakdown of triglycerides.

    As part of the study, participants drank a high-fat milkshake and were monitored for the next six hours.

    Individuals with the mutation produced half the normal amount of apoC-III and had the lowest blood triglyceride levels - seemingly because they could break down more fat.

    They also had relatively low levels of artery-hardening - a sign of cardiovascular disease.


    Study leader Dr Toni Pollin, assistant professor of medicine at the University of Maryland School of Medicine, said: "Our findings suggest that having a lifelong deficiency of apoC-III helps to protect people from developing cardiovascular disease.

    "The discovery of this mutation may eventually help us to develop new therapies to lower triglycerides and prevent cardiovascular disease," she added.

    The researchers believe the mutation was first introduced into the Amish community in Lancaster County by a person who was born in the mid-1700s.

    It appears to be rare or absent in the general population.

    Cathy Ross, cardiac nurse at the British Heart Foundation said the benefits of high HDL cholesterol and low LDL cholesterol are already being achieved by drugs such as statins.

    "If new drugs can be developed that mimic the effect of this mutation, it may afford more ways in which individuals could be protected from developing cardiovascular disease.

    "There are also lots of other simple ways people can reduce your risk of cardiovascular disease such as eating a diet low in saturated fat, having five portions of fruit and vegetables a day and taking regular physical activity."

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    There is a small inbred mountain community in Italy composed of Danish people with the last name Bau who have a similar immunity to bad diet.

    I wonder if it is the same gene.

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    I remember being at a Pennsylvania Dutch restaurant and an older lady asked how it is possible for the Amish to be eating so much starchy and fattening food, yet be so healthy and not fall over from heart attacks. We figured it's because they do so much manual labor, but maybe this gene helps out too.

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