Sanford Burham logoHeart disease appears to have become one of the major causes of death and disability, and yet very little seems to be understood about its genetic underpinnings. A new research conducted by an international team of investigators at the Institute of Molecular Biotechnology of the Austrian Academy of Sciences (IMBA), Sanford-Burnham Medical Research Institute (Sanford-Burnham) and other organizations gave a new perspective on the subject.

The team while researching on Drosophila (fruit flies), examined 7061 genes and a designed a detailed map owing to the contribution of these genes towards diseases and heart function. Significantly, many genes were identified, that previously had not been associated with heart diseases.

With the help of RNAi technology, which knocks out genes for scientists to analyze them in-depth, the team discovered nearly 500 genes that when inhibited give heart problems to flies while under stress. The team specifically discovered that a protein complex called CCR4-Not plays a significant role in heart function. When this protein was turned off, complex genes caused heart muscle abnormalities (cardiomyopathies) in both cases of mice and flies.

Such findings give way to new insights into human health, as a common mutation in the human NOT3 gene is associated with a heart condition that can often lead to severe arrhythmias or sudden cardiac death.

Co-lead scientist Josef Penninger, of IMBA commented that “Our work on flies has identified a possible cause of human heart disease that the human genetic screens had missed.”

Scientist Rolf Bodmer, Ph.D., director of the Development and Aging program at Sanford-Burnham remarked that, “We already established that genes responsible for making the heart in fruit flies have a similar role in humans; and now we find that many of the genes that help the heart maintain normal function also prevent heart disease in humans.”

The designing of this map is said to be only step one. The team was able to recognize many genes without reasonable functions that may, when malfunctioning, predispose humans towards heart disease. Further research needs to be conducted in order to determine the processes by which these genes influence heart health.

The research will be published as cover story in April 2 issue of ‘Cell’.