Using in vivo knockdown technology to model human Barth syndrome in the mouse

Presented by:

  • Zaza Khuchua - PhD, Associate Professor, Cincinnati Children's Research Foundation Cincinnati, OH, USA
  • Barry J. Byrne - MD, PhD, Professor, Department of Pediatrics, University of Florida, Gainesville, Florida, USA


We presented a newly generated mouse model of human Barth syndrome, in which the tafazzin gene has been silenced using shRNA mediated knockdown technology. We showed the biochemical, histological, and physiological consequences of tafazzin silencing in mouse and draw parallels with symptoms that are often presented in human Barth syndrome patients.

Download the presentation slides.


Acehan D, Vaz F, Houtkooper RH, James J, Moore V, Tokunaga C, Kulik W, Wansapura J, Toth MJ, Strauss A, Khuchua Z. (2011) Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome, J Biol Chem, 2011 Jan 14, 286(2):899-908, Epub 2010 Nov 9.
Soustek MS, Falk D, Mah C, Toth M, Schlame M, Lewin A, Byrne B. (2010) Characterization of a transgenic short hairpin RNA-induced murine model of Tafazzin deficiency, Hum Gene Ther, 2010 Nov 23, [Epub ahead of print].

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