DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model

J Clin Invest. 1999 Feb;103(4):R1-7. doi: 10.1172/JCI5346.

Abstract

Myotonic dystrophy (DM) is the most common form of muscular dystrophy and is caused by expansion of a CTG trinucleotide repeat on human chromosome 19. Patients with DM develop atrioventricular conduction disturbances, the principal cardiac manifestation of this disease. The etiology of the pathophysiological changes observed in DM has yet to be resolved. Haploinsufficiency of myotonic dystrophy protein kinase (DMPK), DM locus-associated homeodomain protein (DMAHP) and/or titration of RNA-binding proteins by expanded CUG sequences have been hypothesized to underlie the multi-system defects observed in DM. Using an in vivo murine electrophysiology study, we show that cardiac conduction is exquisitely sensitive to DMPK gene dosage. DMPK-/- mice develop cardiac conduction defects which include first-, second-, and third-degree atrioventricular (A-V) block. Our results demonstrate that the A-V node and the His-Purkinje regions of the conduction system are specifically compromised by DMPK loss. Importantly, DMPK+/- mice develop first-degree heart block, a conduction defect strikingly similar to that observed in DM patients. These results demonstrate that DMPK dosage is a critical element modulating cardiac conduction integrity and conclusively link haploinsufficiency of DMPK with cardiac disease in myotonic dystrophy.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Cholinergic Agents
  • Disease Models, Animal
  • Female
  • Gene Dosage*
  • Heart Block / genetics*
  • Heart Block / physiopathology
  • Male
  • Mice
  • Mutagenesis
  • Myocardium / pathology
  • Myotonic Dystrophy / genetics*
  • Myotonic Dystrophy / physiopathology
  • Myotonin-Protein Kinase
  • Protein Serine-Threonine Kinases / genetics
  • Protein Serine-Threonine Kinases / physiology*
  • Sympatholytics

Substances

  • Cholinergic Agents
  • DMPK protein, human
  • DMPK protein, mouse
  • Sympatholytics
  • Myotonin-Protein Kinase
  • Protein Serine-Threonine Kinases