Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice

The FASEB Journal • Research Communication

Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice Catarina M. Quinzii,*,1 Caterina Garone,*,†,1 Valentina Emmanuele,*,‡ Saba Tadesse,* Sindu Krishna,* Beatriz Dorado,* and Michio Hirano*,2 *Department of Neurology, Columbia University Medical Center, New York, New York, USA; † Human Genetics Joint Ph.D. Program, University of Bologna and Turin, Turin, Italy; and ‡Pediatric Clinic, University of Genoa, Istituto di Ricovero e Cura a Carattere Scientifico G. Gaslini Institute, Genoa, Italy ABSTRACT Primary human CoQ10 deficiencies are clinically heterogeneous diseases caused by mutations in PDSS2 and other genes required for CoQ10 biosynthesis. Our in vitro studies of PDSS2 mutant fibroblasts, with