Pathophysiological defects and transcriptional profiling in the RBM20-/- rat model

PLoS One. 2013 Dec 19;8(12):e84281. doi: 10.1371/journal.pone.0084281. eCollection 2013.

Abstract

Our recent study indicated that RNA binding motif 20 (Rbm20) alters splicing of titin and other genes. The current goals were to understand how the Rbm20(-/-) rat is related to physiological, structural, and molecular changes leading to heart failure. We quantitatively and qualitatively compared the expression of titin isoforms between Rbm20(-/-) and wild type rats by real time RT-PCR and SDS agarose electrophoresis. Isoform changes were linked to alterations in transcription as opposed to translation of titin messages. Reduced time to exhaustion with running in knockout rats also suggested a lower maximal cardiac output or decreased skeletal muscle performance. Electron microscopic observations of the left ventricle from knockout animals showed abnormal myofibril arrangement, Z line streaming, and lipofuscin deposits. Mutant skeletal muscle ultrastructure appeared normal. The results suggest that splicing alterations in Rbm20(-/-) rats resulted in pathogenic changes in physiology and cardiac ultrastructure. Secondary changes were observed in message levels for many genes whose splicing was not directly affected. Gene and protein expression data indicated the activation of pathophysiological and muscle stress-activated pathways. These data provide new insights on Rbm20 function and how its malfunction leads to cardiomyopathy.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / physiopathology*
  • Connectin / genetics
  • Connectin / metabolism
  • Female
  • Gene Expression Regulation
  • Heart Failure / genetics
  • Heart Failure / physiopathology
  • Male
  • Muscle, Skeletal / physiopathology
  • Phenotype
  • Physical Conditioning, Animal
  • Protein Isoforms / genetics
  • Protein Isoforms / metabolism
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • RNA-Binding Proteins / metabolism*
  • Rats
  • Transcription, Genetic*

Substances

  • Connectin
  • Protein Isoforms
  • RBM20 protein, rat
  • RNA, Messenger
  • RNA-Binding Proteins