Genetic Mutation Speeds Up Fat Breakdown

Usually, when genetic mutations are mentioned, people view them in a negative light. Genetic abnormalities are linked to physical and internal mutations, vulnerability to certain diseases, defects and deformities, and various other things that people don't want. However, a recently conducted heart disease research study found that members of the Old Order Amish community had a common genetic mutation amongst their members. This mutation was not entirely bad, though. According to the data obtained, the mutation actually helped their bodies break down fat in their systems at a faster rate.

The researchers determined that the people involved were individuals that had a mutation that disables two copies of a gene called apoC-III. The code for that particular protein, APOC3, is known to be responsible for slowing down the digestion and breakdown of triglycerides in the body. The mutated gene caused them to break down triglycerides at a rate that was unusually quick. The gene also appeared to lead to lower levels of LDL cholesterol, lowering the risk of heart disease. Their arteries also appeared to be largely clear of plaque, having much less of it present than in the average person.

The gene in question was also found to be regulated by insulin, according to data obtained by heart disease researchers in the University of Pennsylvania. People with diabetes that had high levels of APOC3 were found to have higher levels of triglycerides in their system, and an increased risk of heart disease. The genetic mutation, the researchers believed, would help bolster the case that triglycerides were related to heart disease, with APOC3 being an important contributor. However, they acknowledged that any concrete clinical applications of that knowledge could be years away from practical use.

The people that have the genetic mutation appeared to have less cardiovascular disease, and a much lower risk of it. A study dedicated to clarifying the role of the gene has begun, though it was known from animal studies that it might have a role similar to what was observed. The information for humans was not unexpected, but there were no expectations that there would be such an implication of it in just one study.