期刊
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
卷 22, 期 11, 页码 -出版社
MDPI
DOI: 10.3390/ijms22115732
关键词
striated preferentially expressed gene; centronuclear myopathy; cardiomyopathy; muscle regeneration; satellite cells; triad; sarcomere; excitation-contraction coupling
资金
- National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institute of Health [R01 AR068429]
Mutations in SPEG gene are associated with centronuclear myopathy, cardiomyopathy, or a combination of both, playing critical roles in skeletal and cardiac muscle development, maintenance, and function. Understanding the basic mechanisms of SPEG in regulating muscle development will provide insights into therapeutic targets for SPEG-related disorders.
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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