Understanding how genetic alterations lead to hypertrophic cardiomyopathy

Understanding how mutations in subfragment-2 of beta-cardiac myosin heavy chain contribute to hypertrophic cardiomyopathy

Professor Michelle Peckham and her team at the University of Leeds are looking at how changes in genes cause a common inherited heart disease called hypertrophic cardiomyopathy, or HCM. HCM is the most common reason for sudden death in athletes, and around 120,000 people in the UK carry a gene alteration linked to HCM. Scientists have found that alterations in two genes called MYH7 and cMyBPC are involved in around two thirds of cases of HCM. MYH7 and cMyBPC are involved in the production of two parts of a protein called myosin that is essential for the heart muscle to contract properly. Scientists have identified around 400 alterations in the MYH7 gene so far. In this project, Professor Peckham is using a combination of laboratory based approaches to determine why and how some of these alterations affect the structure of the myosin protein. Her team aims to work out how changes in this structure affect how forcefully the heart muscle can contract and ultimately how it leads to HCM. It is vital that we understand more about how these alterations lead to HCM, so this research may reveal new ways to treat the condition.