Manipulation of mtDNA heteroplasmy in all striated muscles of newborn mice by AAV9-mediated delivery of a mitochondria-targeted restriction endonuclease

Gene Ther. 2012 Nov;19(11):1101-6. doi: 10.1038/gt.2011.196. Epub 2011 Dec 1.

Abstract

Mitochondrial diseases are frequently caused by heteroplasmic mitochondrial DNA (mtDNA) mutations. As these mutations express themselves only at high relative ratios, any approach able to manipulate mtDNA heteroplasmy can potentially be curative. In this study, we developed a system to manipulate mtDNA heteroplasmy in all skeletal muscles from neonate mice. We selected muscle because it is one of the most clinically affected tissues in mitochondrial disorders. A mitochondria-targeted restriction endonuclease (mito-ApaLI) expressed from AAV9 particles was delivered either by intraperitoneal or intravenous injection in neonate mice harboring two mtDNA haplotypes, only one of which was susceptible to ApaLI digestion. A single injection was able to elicit a predictable and marked change in mtDNA heteroplasmy in all striated muscles analyzed, including heart. No health problems or reduction in mtDNA levels were observed in treated mice, suggesting that this approach could have clinical applications for mitochondrial myopathies.

Publication types

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

MeSH terms

  • Animals
  • DNA Restriction Enzymes / genetics*
  • DNA Restriction Enzymes / metabolism
  • DNA, Mitochondrial*
  • Deoxyribonucleases, Type II Site-Specific / genetics
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • Dependovirus / genetics*
  • Disease Models, Animal
  • Female
  • Gene Expression
  • Genetic Therapy
  • Genetic Vectors / administration & dosage
  • Genetic Vectors / genetics*
  • Mice
  • Mitochondria, Muscle / genetics*
  • Mitochondria, Muscle / metabolism*
  • Mitochondrial Myopathies / genetics
  • Mitochondrial Myopathies / therapy
  • Muscle, Striated / metabolism*
  • Transduction, Genetic

Substances

  • DNA, Mitochondrial
  • DNA Restriction Enzymes
  • Deoxyribonucleases, Type II Site-Specific
  • GTGCAC-specific type II deoxyribonucleases