title: Reduced expression of DMAHP/SIX5 gene in myotonic dystrophy muscle.
abstract: In myotonic dystrophy (DM), the expansion of CTG triplet repeats in the 3'-untranslated region of DM-protein kinase (DMPK) is a causal gene mutation. However, the pathogenic molecular mechanism of CTG repeat expansion for DM phenotypic expression is unclear. To investigate this issue, we examined the influence of CTG repeat expansion on the expression levels of DMPK gene and 3'-flanking DM locus-associated homeodomain protein (DMAHP)/SIX5 gene in the muscles of DM patients. We isolated RNA from muscle tissues of six DM patients and six controls, and performed a competitive reverse transcriptional polymerase chain reaction (RT-PCR) assay. The total mRNA level of DMAHP/SIX5 was significantly lower in DM than in controls, but the DMPK mRNA level was unchanged. Our results suggest that CTG repeat expansion influences the expression of genes other than DMPK to cause the DM phenotype.
authors.affiliation: Department of Neurology, Nagoya University School of Medicine, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Inukai
authors.forename: M
authors.initials: M
authors.lastname: Doyu
authors.forename: T
authors.initials: T
authors.lastname: Kato
authors.forename: Y
authors.initials: Y
authors.lastname: Liang
authors.forename: S
authors.initials: S
authors.lastname: Kuru
authors.forename: M
authors.initials: M
authors.lastname: Yamamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Kobayashi
authors.forename: G
authors.initials: G
authors.lastname: Sobue
mesh_terms: D000328:Adult; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism*; D009223:Myotonic Dystrophy / Q000378:metabolism*; D012333:RNA, Messenger / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
chemical_list: D018398:Homeodomain Proteins; D012333:RNA, Messenger; C106687:SIX5 protein, human