Saturday, 22 November 2014

Heart Attacks, Gene Mutation and a Helpful Medication

People usually think of a gene error, or a mutation, as a bad thing for our body. This isn't always true, however. A research report published in the New England Journal of Medicine indicates that a specific gene mutation can help to protect people from both heart attacks and a high cholesterol level. The researchers also report that a particular medication can enable people who don't have the mutation to experience its benefits.

The gene in question is called the NPC1L1 gene. We have two of these genes. In most people, both genes are active. The researchers found that in 34 out of the 22,000 people involved in their survey only one of the two genes was active.

The people with the inactive gene had distinct benefits. The level of LDL cholesterol in their body was about ten percent lower than in people with two active genes. LDL cholesterol is the so-called "bad" cholesterol that is linked to both heart attacks and strokes when it's present in excess. The people with only one active gene also had about a fifty percent lower risk of a heart attack. Their rates of type 2 diabetes, high blood pressure and weight problems - all factors that can contribute to heart problems - weren't different from the rate in people with two active genes, however.

A medication name Ezetimibe reduces cholesterol by interfering with the pathway by which the NPC1L1 gene functions. The researchers say that a large research trial is in progress to see if Ezetimibe also reduces the risk of a heart attack. If it does, doctors may be able to give people without the beneficial gene change the same benefit as those with the gene change. Researchers may
also be able to create new and even more effective medications that act on the NPC1L1 pathway.

Photo by Nudanai Apikhomboonwaroot at