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Grand Rounds

August 14, 2012

Cincinnati Children´s Hospital Medical Center
Heart Institute Grand Rounds
Jeffrey Towbin, MD, and John Lynn Jefferies, MD

Cardiomyopathy: Discover The right treatment solutions for your family

Co-hosted by Jeffrey Towbin, MD, and John Lynn Jefferies, MD, Cincinnati Children's Hospital Medical Center, questions were answered by these experts while families learned how to understand the underlying genetic cause of cardiomyopathy  to help improve diagnosis and treatment.

May 31, 2011

Taconic RNAi Webinar

Using in vivo knockdown technology to model human Barth syndrome in the mouse (PDF Presentation)

Zaza Khuchua, PhD, Associate Professor, Cincinnati Children's Research Foundation Cincinnati, Ohio; Barry J. Byrne, MD, PhD, Professor, Department of Pediatrics, University of Florida, Gainesville, Florida


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. (Permission granted by Taconic)

November 29, 2010

Cincinnati Children´s Hospital Medical Center Heart Institute Grand Rounds
Zaza Khuchua, PhD

Previously, we have studied the role of tafazzin and cardiolipin in embryonic development using a zebrafish model. We demonstrated that tafazzin and cardiolipin are essential for normal heart formation in zebrafish embryos. Our studies were published in 2006 (Circ Res. 2006 Jul 21;99(2):201-8). Others have studied the role of cardiolipin and tafazzin employing yeast and Drosophila models.

Although a significant amount of new and valuable information was collected from yeast, zebrafish and drosophila, a mammalian model was warranted in order to more fully understand Barth syndrome pathogenesis in humans.

Thanks to the efforts of Barth Syndrome Foundation and the international team of researchers, a mouse model of Barth syndrome became available in 2009. Our laboratory conducted an initial assessment of the phenotypes on tafazzin-deficient mice. We demonstrated that tafazzin-deficient mice closely recapitulate human symptoms.

In this presentation, we offer a first glimpse on a mouse model of Barth syndrome. Some results presented here were published in 2011 (J Biol Chem. 2011 Jan 14;286(2):899-908).

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