Myofilament Dysfunction in Disease

We use a combination of human, animal and stem cell models to study how disease causing mutations affect the properties of the contractile organelles of muscle cells – myofibrils. Multi-scale analysis is used to determine how mutations can result in altered structure and composition of sarcomeres, organization of myofibril packing and the shape of myocytes and tissue. A main goal of this research is to determine how changes at the nano-meter and millisecond scales of contractile proteins manifest into dysfunction at the higher order scales of muscle. These multi-scale approaches also provide testing platforms for developing novel therapeutic approaches and information about best cellular targets for therapeutic development.

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