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Choi – Examining Function of 𝛃II-Spectrin (SPTBN1) in Skeletal Muscle Metabolism

 

Examining Function of 𝛃II-Spectrin (SPTBN1) in Skeletal Muscle Metabolism (2023)

Undergraduate: Grace Choi


Faculty Advisor: Damaris Lorenzo
Department: Biology, Cell Biology and Physiology

The aim of this project is to characterize the role of the cytoskeletal protein βII-spectrin in skeletal muscle (SKM) structure and metabolism. Using a novel conditional SKM-specific βII-spectrin knockout (SKM-βII-spectrin-KO) we recently validated, we will determine structural and functional consequences of βII-spectrin deficiency in SKM. Interestingly, many previous studies reported that variants in βII-spectrin cause a predominantly neurologic syndrome, but some patients present with motor and muscle-related deficiencies. However, beta-II spectrin’s role in skeletal muscle homeostasis is poorly understood. Based on known functions of βII-spectrin and preliminary findings, we hypothesize that βII-spectrin is required for maintaining the structural integrity, mitochondrial content, and bioenergetic capacity of SKM fibers. Results from this study will increase our understanding of the contribution of the cytoskeleton to SKM energetics and the mechanistic basis of muscle-related deficiencies found in individuals with impaired βII-spectrin function.