How do defects in a protein called myosin VI lead to heart disease?

Myosin VI as a novel regulator of cardiac autophagy - a potential target for the treatment of heart failure triggered by autophagic cell death

Dr Folma Buss is studying proteins involved in a process called autophagy in heart cells, which can lead to heart disease if it goes awry. The word ‘autophagy’ is derived from the Greek words ‘auto’ meaning ‘self’, and ‘phagy’ meaning ‘eating’. It describes the way the body destroys cells it no longer needs, breaking them down into their individual components before recycling them to build new cells. If this process is faulty in heart cells, damaged components build up and can lead to heart failure. We need to understand more about this process that helps to maintain normal heart function. Within cells, a small motor protein called myosin VI moves cargo along tracks made of a protein called actin to where they are needed, like a train moving cargo along railway tracks. Myosin VI is important in heart autophagy, and defects have been found in people with heart disease, such as hypertrophic cardiomyopathy, and in heart failure. In this project Dr Buss will work out whether myosin VI defects affect autophagy in heart cells. In mice, she will find out if these motor protein defects prevent removal and recycling of damaged mitochondria (the cell's power stations) and proteins that connect heart muscle cells to each other, and if myosin defects affects heart function. Understanding how myosin VI defects affect heart health may lead to more research to develop new diagnostic tools and treatments.