title: [Molecular genetics of myotonic dystrophy--population genetics of the CTG repeat expansion of the MTPK gene].
abstract: The CTG repeat number in the 3'-untranslated region of the myotonin protein kinase (MTPK) gene varies between 5 and 37 in normal individuals, whereas myotonic dystrophy (DM) patients have expansions from 50 to 3000 copies. However little is known about the molecular mechanisms or the genetic control of the expansion of triplet repeats. To explain the dynamic mutation mechanism and high prevalence in the population, slippage theory, multistep model and meiotic drive hypothesis have been proposed. Recent studies have shown that repeat expansion may affect neighboring genes (59 gene and DMAHP gene), or exert its effect at the RNA level by modulating the binding of (CUG)n-RNA binding proteins which are required for the maturation, stability and translation of specific mRNAs.
authors.affiliation: Department of Geriatric Medicine, Osaka University Medical School.
authors.forename: H
authors.initials: H
authors.lastname: Yamagata
authors.forename: T
authors.initials: T
authors.lastname: Miki
authors.forename: T
authors.initials: T
authors.lastname: Ogihara
mesh_terms: D005828:Genetics, Population; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D009154:Mutation; D009223:Myotonic Dystrophy / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D011494:Protein Kinases / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases; D016601:RNA-Binding Proteins / Q000378:metabolism; D018911:Trinucleotide Repeats
chemical_list: C585517:DMPK protein, human; D018398:Homeodomain Proteins; D016601:RNA-Binding Proteins; D011494:Protein Kinases; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases