Novel isoform of myotonin protein kinase: gene product of myotonic dystrophy is localized in the sarcoplasmic reticulum of skeletal muscle.
Copyright policy )Novel isoform of myotonin protein kinase: gene product of myotonic dystrophy is localized in the sarcoplasmic reticulum of skeletal muscle.
It is quite important to know the exact localization and function of myotonin protein kinase (MtPK), identified as the gene product of myotonic dystrophy, the most prevalent disease with multisystem disorders among muscular dystrophies. To investigate the localization of MtPK, we raised a polyclonal antibody against a synthetic peptide chosen within the deduced sequence of MtPK. This antibody detected both a membrane-bound 70-kd protein and a soluble 55-kd protein on Western blots of human muscles. By using this antibody for immunohistochemical studies of both biopsied human skeletal muscle fibers and mature innervated cultured muscle fibers, we can now demonstrate by confocal laser scanning microscopy that MtPK is localized mainly in the I-band. By immunoelectron microscopy, it was determined that MtPK is a membrane-bound protein localized mainly in the terminal cisternae of the sarcoplasmic reticulum. To our knowledge, this is the first documentation of the ultrastructural localization of MtPK. This finding is quite important for clarifying the pathophysiological basis of myotonic dystrophy, which might be due to a dysregulation of calcium metabolism.
Adult, Blotting, Western, Molecular Sequence Data, Gene Expression Regulation, Developmental, Myosins, Protein Serine-Threonine Kinases, Muscle Development, Actins, Myotonin-Protein Kinase, Isoenzymes, Sarcoplasmic Reticulum, Humans, Myotonic Dystrophy, Amino Acid Sequence, Microscopy, Immunoelectron, Muscle, Skeletal, Protein Kinases, Cells, Cultured
Adult, Blotting, Western, Molecular Sequence Data, Gene Expression Regulation, Developmental, Myosins, Protein Serine-Threonine Kinases, Muscle Development, Actins, Myotonin-Protein Kinase, Isoenzymes, Sarcoplasmic Reticulum, Humans, Myotonic Dystrophy, Amino Acid Sequence, Microscopy, Immunoelectron, Muscle, Skeletal, Protein Kinases, Cells, Cultured
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