Document Detail

Myotonic dystrophy: emerging mechanisms for DM1 and DM2.
MedLine Citation:
PMID:  16876389     Owner:  NLM     Status:  MEDLINE    
Myotonic dystrophy (DM) is a complex multisystemic disorder linked to two different genetic loci. Myotonic dystrophy type 1 (DM1) is caused by an expansion of a CTG repeat located in the 3' untranslated region (UTR) of DMPK (myotonic dystrophy protein kinase) on chromosome 19q13.3. Myotonic dystrophy type 2 (DM2) is caused by an unstable CCTG repeat in intron 1 of ZNF9 (zinc finger protein 9) on chromosome 3q21. Therefore, both DM1 and DM2 are caused by a repeat expansion in a region transcribed into RNA but not translated into protein. The discovery that these two distinct mutations cause largely similar clinical syndromes put emphasis on the molecular properties they have in common, namely, RNA transcripts containing expanded, non-translated repeats. The mutant RNA transcripts of DM1 and DM2 aberrantly affect the splicing of the same target RNAs, such as chloride channel 1 (ClC-1) and insulin receptor (INSR), resulting in their shared myotonia and insulin resistance. Whether the entire disease pathology of DM1 and DM2 is caused by interference in RNA processing remains to be seen. This review focuses on the molecular significance of the similarities and differences between DM1 and DM2 in understanding the disease pathology of myotonic dystrophy.
Diane H Cho; Stephen J Tapscott
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Review     Date:  2006-06-20
Journal Detail:
Title:  Biochimica et biophysica acta     Volume:  1772     ISSN:  0006-3002     ISO Abbreviation:  Biochim. Biophys. Acta     Publication Date:  2007 Feb 
Date Detail:
Created Date:  2007-01-26     Completed Date:  2007-03-13     Revised Date:  2007-12-03    
Medline Journal Info:
Nlm Unique ID:  0217513     Medline TA:  Biochim Biophys Acta     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  195-204     Citation Subset:  IM    
Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA 98109-1024, USA.
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MeSH Terms
DNA Repeat Expansion
Myotonic Dystrophy / classification,  etiology,  genetics*,  metabolism*
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