Gene Mutation Linked To Low Triglyceride Levels – Amish Study May Lead To Cholesterol Treatment

Gene Mutation Linked To Low Triglyceride Levels – Amish Study May Lead To Cholesterol Treatment

Toni I. Pollin Ph.D

(Best Syndication News) Genetic research among the Old Order Amish population has produced insight into a gene mutation that may significantly reduce coronary artery disease. University of Maryland School of Medicine in Baltimore scientists say that people with a mutation of the APOC3 gene have higher levels of HDL-cholesterol (“good” cholesterol) and lower levels of LDL-cholesterol (“bad” cholesterol).

Those with the gene mutation are lucky and their heritage can be traced back to a single person who was born back in the mid-1700s. The mutation is rare in the general population, but the discovery could lead to new therapies for others suffering from hypertension and cholesterol problems.

The APOC3 gene is responsible for producing ApoC-III proteins which bind to triglycerides and cholesterol in the blood. This binding inhibits the breakdown of triglycerides so they stay in the blood longer.

People with a higher ApoC-III protein have higher triglycerides. “We found that about 5 percent 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,” according to Toni I. Pollin, Ph.D., the lead investigator and assistant professor of medicine at the University of Maryland School of Medicine.

People with the gene mutation also have less arteriosclerosis (hardening of the arteries). They measure arteriosclerosis by the amount of calcium in their coronary arteries. “Our findings suggest that having a lifelong deficiency of apoC-III helps to protect people from developing cardiovascular disease,” Pollin says. “The discovery of this mutation may eventually help us to develop new therapies to lower triglycerides and prevent cardiovascular disease.”

By Marsha Quinn



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