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15.12.08 12:21

Gene mutation protects heart

This article by pa.press.net was sent to us by Ninian Peckitt, independen scientific advisor of the NETWORK-Lipolysis. Read more..

A few lucky individuals have a gene that protects the heart from the effects of fatty food, research suggests.

The discovery could lead to new treatments for heart disease, scientists believe. US investigators studied the DNA of more than 800 members of the Old Order Amish community, who are genetically similar and whose ancestry is easily traced. About 5% of the volunteers from Lancaster County, Pennsylvania, had a gene mutation that reduced levels of triglyceride fats in the blood and helped prevent heart disease.

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

People with the mutant version of APOC3 were able to break down more triglycerides and clean them out of their blood. Carriers of the variant had about half the normal amount of apoC-III. They also had higher levels of "good" high density lipoprotein (HDL) cholesterol, and lower levels of "bad" low density lipoprotein (LDL) cholesterol.

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, which are fat particles in the blood associated with an increased risk of coronary artery disease. Our findings suggest that having a lifelong deficiency of apoC-III helps to protect people from developing cardiovascular disease."

The researchers, whose findings are reported in the journal Science, used a new technique to scan 500,000 markers in the DNA of the participants. They were looking for single nucleotide polymorphisms, or SNPs - single letter changes in the genetic code - associated with triglyceride levels in the blood.

As part of the study, the Amish volunteers drank a high fat milkshake and were then closely monitored for six hours. Some were also tested for the presence of calcium deposits in their coronary arteries - a clear sign of cardiovascular disease. "What we found is that people who have the mutation are much less likely to have any calcification," said Dr Pollin.


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