Gene Mutations Control Type 2 Diabetes, Cholesterol, And Heart Function

Oct 03 2018

Gene Mutations Control Type 2 Diabetes, Cholesterol, And Heart Function

Gene mutations are a permanent alteration in the DNA sequence that makes up a gene, such that, this altered sequence now differs from that found in most other people. These mutations can range in various sizes. But, regardless of their size, they can powerfully affect anywhere from one DNA building block to large segments of chromosomes that includes multiple genes. Indeed, the effect gene mutations exert on ones health can be very powerful.


gene mutations



Gene Mutations: Not Always Negative 

Genetic mutations do not always have negative effects on health. Indeed, a recent study by researchers at Stanford University found that certain mutations actually had positive affects on cardiovascular health, blood cholesterol levels, and Type 2 diabetes.


Patients who carried any one of these three gene variants not only had better levels of blood cholesterol, but also a lower risk of developing type 2 diabetes and coronary heart disease.

The investigators suggest that their findings, reported in Nature Genetics, provides valuable information for developing drugs to treat these conditions.


The genes are: ANGPTL4 for type 2 diabetes, and PDE3B for coronary heart disease.



Genetic Mutations: Where Do We Go From Here?

The Stanford researchers believe that their results can lead to developing drugs that will act in the same way as the gene variants.


Indeed, there already is a drug called cilostazol, which mimics the positive effect of the PDE3B mutation on cholesterol, and is used to  treating vascular conditions.


The next step is to organize clinical trials to thoroughly test a panel of drugs for their ability to reduce cholesterol and lower the risk for heart disease.


The genetics, says senior study author Dr. Themistocles L. Assimes, an assistant professor of medicine in Stanford University’s Division of Cardiovascular Medicine, suggests that this drug can decrease the risk of heart disease by lowering triglycerides, but more research is needed.

Share Post
Barry G

Barry graduated from City University of New York and holds a Ph.D. in Physiological Psychology.

No Comments

Sorry, the comment form is closed at this time.