title: Over expression of the murine myotonic dystrophy protein kinase in the mouse myogenic C2C12 cell line leads to inhibition of terminal differentiation.
abstract: Myotonic dystrophy (DM) is an autosomal dominant human disorder, caused by the abnormal expansion of a CTG trinucleotide repeat in the 3' untranslated region of a protein kinase gene (DMPK). Muscle symptoms are a common feature of the disorder and in the adult onset cases there are increased patterns of muscle fibre degeneration and regeneration. In the congenitally affected infants there is a failure of muscle maturation, with the histological presence of numerous immature fibres. However, the pathological mechanism in both forms of the disease is unclear. We report that over-expression of the murine dmpk gene, in a murine myogenic cell line, leads to markedly reduced levels of fusion to the terminally differentiated state. These findings complement recently published data using a heterologous expression/cell system and may have implications for the understanding of the disease process in this disorder.
authors.affiliation: Division of Neurosciences & Psychological Medicine, Imperial College School of Medicine, London.
authors.forename: G
authors.initials: G
authors.lastname: Okoli
authors.forename: N
authors.initials: N
authors.lastname: Carey
authors.forename: K J
authors.initials: KJ
authors.lastname: Johnson
authors.forename: D J
authors.initials: DJ
authors.lastname: Watt
mesh_terms: D000818:Animals; D001483:Base Sequence; D002454:Cell Differentiation; D002459:Cell Fusion; D002460:Cell Line; D003402:Creatine Kinase / Q000032:analysis; D015870:Gene Expression; D051379:Mice; D008969:Molecular Sequence Data; D009132:Muscles / Q000166:cytology / Q000378:metabolism*; D009223:Myotonic Dystrophy / Q000201:enzymology / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases / Q000096:biosynthesis* / Q000235:genetics; D013234:Stem Cells / Q000166:cytology / Q000378:metabolism*; D014162:Transfection
chemical_list: C585517:DMPK protein, human; C585516:DMPK protein, mouse; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases; D003402:Creatine Kinase