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James Spudich Part 4: Myosin Mutations and Hypertrophic Cardiomyopathy


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Spudich focuses on current studies in his lab to understand how mutations in cardiac myosin cause human hypertrophic cardiomyopathy (HCM). This is a disease characterized by a hyper-contractile heart and is the most common cause of sudden cardiac arrest in people under 35 years old. Based on insight from a dream, Spudich realized that many of the mutations associated with HCM are in a region of the myosin molecule (the myosin mesa) that may regulate the availability of myosin heads to bind to actin and thus, regulate muscle contraction. Spudich’s lab is now working to determine the importance of the myosin mesa in regulating cardiac contractility and, in particular, its role in HCM.
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