Abstract
To investigate the role of myotonin-protein kinase (MT-PK) in the pathophysiology of myotonic dystrophy (DM), we developed specific antibodies against synthetic MT-PK peptides. The antibody identified a 53kDa protein in skeletal muscle and recognized decreases in the amount of the protein in both adult and congenital DM patients, compared with amounts in controls and in patients with other muscle diseases. In cardiac muscle, this antibody identified a 62kDa protein, and in brain, both the 53 and 62kDa proteins were detected. These results suggest the presence of tissue-specific isoforms of MT-PK.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Amino Acid Sequence
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Antibodies
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Brain / enzymology
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Epitopes / analysis
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Exons
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Humans
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Infant, Newborn
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Isoenzymes / analysis
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Isoenzymes / chemistry
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Isoenzymes / metabolism
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Molecular Sequence Data
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Molecular Weight
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Muscles / enzymology*
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Muscular Diseases / enzymology
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Myocardium / enzymology*
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Myotonic Dystrophy / enzymology*
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Myotonic Dystrophy / genetics
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Myotonin-Protein Kinase
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Peptide Fragments / chemical synthesis
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Peptide Fragments / immunology
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Protein Kinases / analysis
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Protein Kinases / chemistry
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Protein Kinases / metabolism*
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Protein Serine-Threonine Kinases*
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Protein Structure, Secondary
Substances
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Antibodies
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DMPK protein, human
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Epitopes
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Isoenzymes
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Peptide Fragments
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Protein Kinases
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Myotonin-Protein Kinase
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Protein Serine-Threonine Kinases