title: Normal levels of DM RNA and myotonin protein kinase in skeletal muscle from adult myotonic dystrophy (DM) patients.
abstract: A major question about the pathogenesis of myotonic dystrophy (DM) is how the (CTG)n repeat mutation alters expression of the DM gene and how that is related to disease causation. Most previous studies have found a decrease in DM RNA and protein in patient tissue. In contrast to these reports we find, unexpectedly, that independent of the size of the CTG repeat: (1) there are equal levels of RNA products of mutant and normal alleles, and (2) levels of Mt-PK in skeletal muscle from DM patients is unaltered from normal. These findings are consistent with the recent hypothesis that mutant DM DNA or RNA may cause disease by disrupting the function of other, yet unidentified, genes.
authors.affiliation: Department of Neurology, State University of New York Health Sciences Center, NY 11203, USA.
authors.forename: S
authors.initials: S
authors.lastname: Bhagavati
authors.forename: S
authors.initials: S
authors.lastname: Bhagwati
authors.forename: A
authors.initials: A
authors.lastname: Ghatpande
authors.forename: B
authors.initials: B
authors.lastname: Leung
mesh_terms: D015971:Gene Expression Regulation, Enzymologic; D006801:Humans; D018895:Microsatellite Repeats; D009132:Muscles / Q000201:enzymology*; D009223:Myotonic Dystrophy / Q000201:enzymology / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D011494:Protein Kinases / Q000235:genetics / Q000378:metabolism*; D017346:Protein Serine-Threonine Kinases; D012333:RNA, Messenger / Q000235:genetics
chemical_list: C585517:DMPK protein, human; D012333:RNA, Messenger; D011494:Protein Kinases; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases