Genome editing with CRISPR/Cas9 in postnatal mice corrects PRKAG2 cardiac syndrome

Cell Res. 2016 Oct;26(10):1099-1111. doi: 10.1038/cr.2016.101. Epub 2016 Aug 30.

Abstract

PRKAG2 cardiac syndrome is an autosomal dominant inherited disease resulted from mutations in the PRKAG2 gene that encodes γ2 regulatory subunit of AMP-activated protein kinase. Affected patients usually develop ventricular tachyarrhythmia and experience progressive heart failure that is refractory to medical treatment and requires cardiac transplantation. In this study, we identify a H530R mutation in PRKAG2 from patients with familial Wolff-Parkinson-White syndrome. By generating H530R PRKAG2 transgenic and knock-in mice, we show that both models recapitulate human symptoms including cardiac hypertrophy and glycogen storage, confirming that the H530R mutation is causally related to PRKAG2 cardiac syndrome. We further combine adeno-associated virus-9 (AAV9) and the CRISPR/Cas9 gene-editing system to disrupt the mutant PRKAG2 allele encoding H530R while leaving the wild-type allele intact. A single systemic injection of AAV9-Cas9/sgRNA at postnatal day 4 or day 42 substantially restores the morphology and function of the heart in H530R PRKAG2 transgenic and knock-in mice. Together, our work suggests that in vivo CRISPR/Cas9 genome editing is an effective tool in the treatment of PRKAG2 cardiac syndrome and other dominant inherited cardiac diseases by selectively disrupting disease-causing mutations.

MeSH terms

  • AMP-Activated Protein Kinases / deficiency
  • AMP-Activated Protein Kinases / genetics*
  • AMP-Activated Protein Kinases / metabolism
  • Adenoviridae / genetics
  • Adolescent
  • Adult
  • Aged
  • Alleles
  • Animals
  • CRISPR-Cas Systems / genetics*
  • Child
  • Child, Preschool
  • Female
  • Gene Editing*
  • Heart / physiopathology
  • Homozygote
  • Humans
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Mice, Transgenic
  • Middle Aged
  • Myocardium / metabolism
  • Myocardium / pathology
  • Polymorphism, Single Nucleotide
  • RNA, Guide, CRISPR-Cas Systems / metabolism
  • Wolff-Parkinson-White Syndrome / genetics
  • Wolff-Parkinson-White Syndrome / pathology
  • Wolff-Parkinson-White Syndrome / therapy*
  • Young Adult

Substances

  • RNA, Guide, CRISPR-Cas Systems
  • PRKAG2 protein, human
  • PRKAG2 protein, mouse
  • AMP-Activated Protein Kinases