Submission Title
To fold or not to fold – Protein aggregation in myopathies
Abstract
Muscles direct movement and are central to the animal lifestyle. The most significant muscle in vertebrates is the heart, fueling life by ensuring systemic circulation of oxygen and nutrients.
Defects in heart muscles have detrimental consequences. This image shows the sarcomere structure of a wild-type C. elegans adult next to an animal bearing a single nucleotide patient mutation in muscle myosin. In humans, this mutation causes severe heart defects, however, it was not known why and the best explanation to date was that it impacts the kinetics of the myosin power stroke cycle.
Our research revealed that this patient mutation actually results in protein aggregation, which is the main driver of pathology in our model system. By putting protein misfolding on the map as a critical contributor to myopathies, this image captures the essence of our observation, which will improve the way we understand and treat heart disease in the future.
Authors
- Philipp Dexheimer (Philipp Dexheimer)
