Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development,Function, and Disease |
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| Authors: | Shiyu Luo Samantha M. Rosen Qifei Li Pankaj B. Agrawal |
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| Affiliation: | 1.Division of Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA; (S.L.); (S.M.R.); (Q.L.);2.Division of Newborn Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA;3.The Manton Center for Orphan Disease Research, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA |
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| Abstract: | 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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| Keywords: | striated preferentially expressed gene centronuclear myopathy cardiomyopathy muscle regeneration satellite cells triad sarcomere excitation-contraction coupling |
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