title: Pathomechanisms in coenzyme q10-deficient human fibroblasts.
abstract: Primary coenzyme Q10 (CoQ10) deficiency is a rare mitochondrial disorder associated with 5 major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) cerebellar ataxia, (4) isolated myopathy, and (5) steroid-resistant nephrotic syndrome. Growth retardation, deafness and hearing loss have also been described in CoQ10-deficient patients. This heterogeneity in the clinical presentations suggests that multiple pathomechanisms may exist. To investigate the biochemical and molecular consequences of CoQ10 deficiency, different laboratories have studied cultures of skin fibroblasts from patients with CoQ10 deficiency. In this review, we summarize the results obtained in these studies over the last decade.
authors.affiliation: Department of Physiology, Faculty of Medicine, University of Granada, Granada, Spain ; Institute of Biotechnology, Biomedical Research Center, University of Granada, Granada, Spain.
authors.forename: Luis C
authors.initials: LC
authors.lastname: López
authors.affiliation: Department of Physiology, Faculty of Medicine, University of Granada, Granada, Spain ; Institute of Biotechnology, Biomedical Research Center, University of Granada, Granada, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Luna-Sánchez
authors.affiliation: Department of Physiology, Faculty of Medicine, University of Granada, Granada, Spain ; Institute of Biotechnology, Biomedical Research Center, University of Granada, Granada, Spain.
authors.forename: Laura
authors.initials: L
authors.lastname: García-Corzo
authors.affiliation: Department of Neurology, Columbia University Medical Center, New York, N.Y., USA.
authors.forename: Catarina M
authors.initials: CM
authors.lastname: Quinzii
authors.affiliation: Department of Neurology, Columbia University Medical Center, New York, N.Y., USA.
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
keywords: ATP; Apoptosis; Coenzyme Q10 deficiency; Mitochondria; Mitophagy; Molecular basis of disease; Oxidative stress; Ubiquinone; mtDNA