Non-inherited Mutations Account for Many Heart Defects

     Summary:
     After a massive genetic study, led by researchers at the Yale School of Medicine, shows that new  mutations found in the offspring of the parents play a ten percent role in the development of heart disease. There have been hundreds of different mutations found that appear to cause the most common heart defect at birth, known as congenital heart disease. This disease can disrupt the normal blood flow through the heart causing it to slow down, go in the wrong direction or to the wrong place, or be blocked completely.These mutations are found in genes that primarily modify histones, proteins that package DNA in the nucleus and conduct the timing and starting of genes during the development of a fetus. This discovery provides new information in the causes of the disease. For example, the sets of mutated genes appear to also be the same genes that are associated with autism. This information may also help with the treatment and prevention of congenital heart disease in the future, possibly stopping the disease in the early stages of development of the heart. In general, the mutations can occur multiple times in the same location and all increase or decrease the modification of histone proteins. The results of the study suggest that environmental influences during developmental stages of a fetus can also be a cause to the mutations.


     Relevance:
     This article connects to the circulatory system, specifically the heart. It shows how not all heart diseases have a major environmental influence or develop during later stages of life. The effects of congenital heart disease are also examples of an interruption to homeostasis because of how the disease may cause a lack of oxygen and blood to certain parts of the body, as well as showing how the blood can flow in the wrong direction even with the help from valves. The article also provides an insight to the development of the heart and the prevention of future heart problems.

Yale University, May 12, 2013
http://www.sciencedaily.com/releases/2013/05/130512141210.htm