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Nihon Rinsho. 1999 Apr;57(4):932-6.

[Effect on gene expression of the expanded CTG repeat on 3'-untranslated region of myotonic dystrophy (DM) protein kinase].

[Article in Japanese]

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Department of Neurology, Omuta Rosai Hospital.


Myotonic dystrophy is an autosomal dominant heritable disease associated with an expansion of CTG trinucleotide repeat within 3' untranslated region of the DMPK gene. The key question is how the mutation in the 3' untranslated region of the DMPK gene exerts an dominant effect at the cellular level, despite the fact that it does not alter the protein coding region of the gene. Although the mechanism of myotonic dystrophy remains controversial, some evidence suggests that CUG repeats in the DMPK mRNA may have pathological effects. A hypothesis on molecular mechanism of DM pathogenesis, in terms of RNA-protein interactions and regulation of gene expression through the 3' untranslated region of mRNAs, was discussed.

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