The artificial gene Jazz, a transcriptional regulator of utrophin, corrects the dystrophic pathology in mdx mice

Hum Mol Genet. 2010 Mar 1;19(5):752-60. doi: 10.1093/hmg/ddp539. Epub 2009 Dec 4.

Abstract

The absence of the cytoskeletal protein dystrophin results in Duchenne muscular dystrophy (DMD). The utrophin protein is the best candidate for dystrophin replacement in DMD patients. To obtain therapeutic levels of utrophin expression in dystrophic muscle, we developed an alternative strategy based on the use of artificial zinc finger transcription factors (ZF ATFs). The ZF ATF 'Jazz' was recently engineered and tested in vivo by generating a transgenic mouse specifically expressing Jazz at the muscular level. To validate the ZF ATF technology for DMD treatment we generated a second mouse model by crossing Jazz-transgenic mice with dystrophin-deficient mdx mice. Here, we show that the artificial Jazz protein restores sarcolemmal integrity and prevents the development of the dystrophic disease in mdx mice. This exclusive animal model establishes the notion that utrophin-based therapy for DMD can be efficiently developed using ZF ATF technology and candidates Jazz as a novel therapeutic molecule for DMD therapy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Dystrophin / genetics
  • Dystrophin / metabolism
  • Female
  • Male
  • Mice
  • Mice, Inbred mdx
  • Mice, Transgenic
  • Muscular Dystrophy, Animal / genetics
  • Muscular Dystrophy, Animal / pathology
  • Muscular Dystrophy, Animal / therapy*
  • Transcription Factors / genetics*
  • Utrophin / genetics*
  • Utrophin / metabolism
  • Zinc Fingers

Substances

  • Dystrophin
  • Transcription Factors
  • Utrophin