[Molecular pathways to myotonic dystrophy].
Myotonic dystrophy(DM), the most common form of adult-onset muscular dystrophy, comprises at least 2 sub-types, DM1 and DM2. DM1 is caused by the expansion of a CTG repeat located in the 3' untranslated region (3UTR) of the DM protein kinase (DMPK) gene. Recently, the expansion of a CCTG tetranucleotide repeat located in the first intron of the ZNF9 gene was identified as the mutation responsible for DM2. Since both DM1 and DM2 are caused by the expansion of repetitive sequences, some common factors that interact with these sequences might be involved in the pathogenesis of DM. MBNL (muscleblind) 1 is a candidate for such factors and is thought to be sequestered by the expanded forms of DM transcripts.
Ishiura
Shoichi
S
Department of Life Sciences, Graduate School of Arts and Sciences, The University of Tokyo.
D006801:Humans; D009223:Myotonic Dystrophy / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics; D018911:Trinucleotide Repeats
C433227:CNBP protein, human; C585517:DMPK protein, human; C493663:MBNL1 protein, human; D016601:RNA-Binding Proteins; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases