[Myotonic dystrophy - a new insight into a well-known disease].
Myotonic dystrophy (DM), the most common dystrophy in adults, is an autosomal dominant disease characterized by a variety of multisystemic features. Two genetically distinct forms of DM are identified - type 1 (DM1), the classic form first described by Steinert, and type 2 (DM2), identified by Ricker. DM1 is caused by trinucleotide expansion of CTG in the myotonic dystrophy protein kinase gene, whereas in DM2 the expansion of tetranucleotide repeats (CCTG) in the zinc finger protein 9 gene was identified. Both mutations are dynamic and are located in non-coding parts of the genes. Phenotype variability of DM1 and DM2 is caused by a molecular mechanism due to mutated RNA toxicity. This paper reviews the clinical features of both types of myotonic dystrophies and summarizes current views on pathogenesis of myotonic dystrophy.
Lusakowska
Anna
A
Katedra i Klinika Neurologii, Warszawski Uniwersytet Medyczny. anna.lusakowska@wum.edu.pl
Sułek-Piatkowska
Anna
A
D000328:Adult; D006801:Humans; D009154:Mutation; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D065636:Myotonin-Protein Kinase; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*
C433227:CNBP protein, human; C585517:DMPK protein, human; D016601:RNA-Binding Proteins; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases