Research identifies a new mechanism leading to heart attacks

Posted by er134 at Dec 02, 2013 04:28 PM |
Professor Samani’s research paper published in Nature

Nilesh Samani (pictured), British Heart Foundation (BHF) Professor of Cardiology at the University and Director of the National Institute for Health Research (NIHR) Leicester Cardiovascular Biomedical Research Unit is an author on a paper published in Nature which describes a new mechanism that can cause heart attacks.

By investigating a unique German family where heart attacks had occured at a young age in several family members, the researchers identified mutations in two genes (GUCY1A3 and CCT7) that impair signalling by nitric oxide and increase the risk of a heart attack through increased thrombus (blood clot) formation.

Interestingly, in earlier research published in Nature Genetics, (Deloukas P et al. Nat Genet 2013), Professor Samani and colleagues had shown that a common variant in one of the genes, GUCY1A3, that is carried by up to 80% of the population, is also associated with a modest higher risk of heart attacks. In additional studies, the researchers showed that GUCY1A3 and CCT7 impair nitric oxide production by affecting the activity of an enzyme in platelets and other cells called soluble guanylate cyclase. Stimulators of this enzyme that are safe in humans are already known suggesting that these drugs may provide a new way of reducing the risk of heart attacks.

Professor Samani said: "This research is important for several reasons. It demonstrates that rare families afflicted with a particular disease can provide important insights into a common disease and we are very grateful that such families are willing to participate in research. It also shows the power of genetics to identify new disease mechanisms that could lead to new and widely applicable treatments. This is precisely one of the objectives of the BRU."