Frataxin Deficiency Impairs Mitochondrial Biogenesis in Cells, Mice and Humans

Mittal J. Jasoliya, Marissa Z. McMackin, Chelsea K. Henderson, Susan L. Perlman, Gino A. Cortopassi; Hum Mol Genet 2017 ddx141. doi: 10.1093/hmg/ddx141

We observed decreased mitochondrial copy number in all the three FRDA models tested: cells, mice and patient blood. In addition we observed 40% residual mitochondrial gene expression in FRDA patient blood. These deficiencies of mitochondrial biogenesis in FRDA cells and patient blood are significantly correlated with FXN expression, consistent with the idea that the decreased mitochondrial biogenesis is a consequence of FXN deficiency.