title: Invertebrate models for coenzyme q10 deficiency.
abstract: The human syndrome of coenzyme Q (CoQ) deficiency is a heterogeneous mitochondrial disease characterized by a diminution of CoQ content in cells and tissues that affects all the electron transport processes CoQ is responsible for, like the electron transference in mitochondria for respiration and ATP production and the antioxidant capacity that it exerts in membranes and lipoproteins. Supplementation with external CoQ is the main attempt to address these pathologies, but quite variable results have been obtained ranging from little response to a dramatic recovery. Here, we present the importance of modeling human CoQ deficiencies in animal models to understand the genetics and the pathology of this disease, although the election of an organism is crucial and can sometimes be controversial. Bacteria and yeast harboring mutations that lead to CoQ deficiency are unable to grow if they have to respire but develop without any problems on media with fermentable carbon sources. The complete lack of CoQ in mammals causes embryonic lethality, whereas other mutations produce tissue-specific diseases as in humans. However, working with transgenic mammals is time and cost intensive, with no assurance of obtaining results. Caenorhabditis elegans and Drosophila melanogaster have been used for years as organisms to study embryonic development, biogenesis, degenerative pathologies, and aging because of the genetic facilities and the speed of working with these animal models. In this review, we summarize several attempts to model reliable human CoQ deficiencies in invertebrates, focusing on mutant phenotypes pretty similar to those observed in human patients.
authors.affiliation: Centro Andaluz de Biología del Desarrollo, Universidad Pablo Olavide - CSIC, and CIBERER Instituto de Salud Carlos III, Seville, Spain.
authors.forename: Daniel J M
authors.initials: DJ
authors.lastname: Fernández-Ayala
authors.affiliation: Centro Andaluz de Biología del Desarrollo, Universidad Pablo Olavide - CSIC, and CIBERER Instituto de Salud Carlos III, Seville, Spain.
authors.forename: Sandra
authors.initials: S
authors.lastname: Jiménez-Gancedo
authors.affiliation: Centro Andaluz de Biología del Desarrollo, Universidad Pablo Olavide - CSIC, and CIBERER Instituto de Salud Carlos III, Seville, Spain.
authors.forename: Ignacio
authors.initials: I
authors.lastname: Guerra
authors.affiliation: Centro Andaluz de Biología del Desarrollo, Universidad Pablo Olavide - CSIC, and CIBERER Instituto de Salud Carlos III, Seville, Spain.
authors.forename: Plácido
authors.initials: P
authors.lastname: Navas
keywords: Caenorhabditis elegans; Coenzyme Q deficiency; Drosophila melanogaster