title: Drosophila expressing human SOD1 successfully recapitulates mitochondrial phenotypic features of familial amyotrophic lateral sclerosis.
abstract: Mitochondrial pathology is a seminal pathogenic hallmark of familial amyotrophic lateral sclerosis (FALS) which is extensively manifested by human patients and mutant SOD1(G93A) mammalian models. Rodents expressing human FALS-associated mutations successfully mimic several human disease features; although they are not as amenable to genetic and therapeutic compound screenings as non-mammalian models. In this study, we report a newly generated and characterized Drosophila model that expresses human SOD1(G93A) in muscle fibers. Presence of SOD1(G93A) in thoracic muscles causes mitochondrial pathology and impairs normal motor behavior in these flies. Use of this new FALS-24B-SOD1(G93A) fly model holds promise for better understanding of the mitochondrial affectation process in FALS and for the discovery of novel therapeutic compounds able to reverse mitochondrial dysfunction in this fatal disease.
authors.affiliation: Experimental Medicine Department, Medical School, University of Lleida, 25198 Lleida, Catalonia, Spain; Institut de Recerca Biomèdica de Lleida (IRBLLEIDA), 25198 Lleida, Catalonia, Spain; School of Biological Sciences, Nanyang Technological University, Singapore 637551, Singapore. Electronic address: xavgallart@gmail.com.
authors.forename: Xavier
authors.initials: X
authors.lastname: Gallart-Palau
authors.affiliation: Department of Research, National Neuroscience Institute, Singapore 308433, Singapore; Duke-NUS Graduate Medical School, Singapore 169857, Singapore.
authors.forename: Chee-Hoe
authors.initials: CH
authors.lastname: Ng
authors.affiliation: Experimental Medicine Department, Medical School, University of Lleida, 25198 Lleida, Catalonia, Spain; Institut de Recerca Biomèdica de Lleida (IRBLLEIDA), 25198 Lleida, Catalonia, Spain.
authors.forename: Joan
authors.initials: J
authors.lastname: Ribera
authors.affiliation: School of Biological Sciences, Nanyang Technological University, Singapore 637551, Singapore.
authors.forename: Siu Kwan
authors.initials: SK
authors.lastname: Sze
authors.affiliation: Department of Physiology, National University of Singapore, Singapore 117543, Singapore; Department of Research, National Neuroscience Institute, Singapore 308433, Singapore; Duke-NUS Graduate Medical School, Singapore 169857, Singapore.
authors.forename: Kah-Leong
authors.initials: KL
authors.lastname: Lim
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D000818:Animals; D030801:Animals, Genetically Modified; D001522:Behavior, Animal; D004195:Disease Models, Animal; D004331:Drosophila melanogaster / Q000235:genetics; D006801:Humans; D008928:Mitochondria / Q000235:genetics / Q000473:pathology*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology*; D009154:Mutation; D010641:Phenotype; D000072105:Superoxide Dismutase-1 / Q000235:genetics*; D016019:Survival Analysis
chemical_list: C000606290:SOD1 protein, human; D000072105:Superoxide Dismutase-1
keywords: Drosophila; FALS; Mitochondria; SOD1(G93A)