Key result
Mutations in striated preferentially expressed protein kinase (SPEG) are associated with centronuclear myopathy and cardiomyopathy, playing critical roles in muscle development and function.
Why the study?
Mutations in SPEG are associated with centronuclear myopathy, cardiomyopathy, or both, but a review of its molecular mechanisms and genotype-phenotype relationships was needed.
This review summarizes the genotype-phenotype relationships and molecular mechanisms of SPEG-related diseases, including centronuclear myopathy and cardiomyopathy.
Mutations in striated preferentially expressed protein kinase (SPEG), a member of the myosin light chain kinase protein family, are associated with centronuclear myopathy (CNM), cardiomyopathy, or a combination of both. Burgeoning evidence suggests that SPEG plays critical roles in the development, maintenance, and function of skeletal and cardiac muscles. Here we review the genotype-phenotype relationships and the molecular mechanisms of SPEG-related diseases. This review will focus on the progress made toward characterizing SPEG and its interacting partners, and its multifaceted functions in muscle regeneration, triad development and maintenance, and excitation-contraction coupling. We will also discuss future directions that are yet to be investigated including understanding of its tissue-specific roles, finding additional interacting proteins and their relationships. Understanding the basic mechanisms by which SPEG regulates muscle development and function will provide critical insights into these essential processes and help identify therapeutic targets in SPEG-related disorders.
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Luo et al. (2021) conducted a review in SPEG-related diseases (centronuclear myopathy, cardiomyopathy). SPEG mutations was evaluated. Mutations in striated preferentially expressed protein kinase (SPEG) are associated with centronuclear myopathy and cardiomyopathy, playing critical roles in muscle development and function.
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