caa a22 4500 467932379 CHVBK 20180406152947.0 cr unu---uuuuu 170328e20060201xx s 000 0 eng 10.1007/s10545-006-0148-8 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0148-8 Measurement of ATP production in mitochondrial disorders [Elektronische Daten] [R. Shepherd, N. Checcarelli, A. Naini, D. De Vivo, S. DiMauro, C. Sue] Summary: Mitochondrial diseases are a heterogeneous group of disorders caused by mutations in both nuclear DNA (nDNA) and mitochondrial DNA (mtDNA). Mitochondrial disease leads to impaired respiratory chain function and reduced ATP production. The aim of this study was to compare disturbances in mitochondrial function by measuring ATP synthesis in fibroblasts derived from patients with nDNA and mtDNA defects. Skin fibroblasts derived from 22 patients with either nDNA-related disorders (n = 8) or mtDNA-related disorders (n = 14) were analysed. ATP synthesis was markedly decreased in fibroblasts derived from patients with nDNA-related disorders but only variably so in patients with mtDNA mutations. In fibroblasts with the MELAS 3243A > G mutation, ATP synthesis correlated with mutant load. We believe that the observed differences in ATP production between cell lines derived from patients with nDNA-related disorders and mtDNA-related disorders may help in the assessment of patients with undiagnosed mitochondrial disease. The clinical comparisons observed in patients with nDNA- and mtDNA-related disorders may be explained by differences in the disturbance of ATP synthesis measured in the two conditions. SSIEM and Springer, 2006 Shepherd R. Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, St Leonard's, NSW, Australia aut Checcarelli N. Department of Neurology, Columbia University, New York, USA aut Naini A. Department of Neurology, Columbia University, New York, USA aut De Vivo D. Department of Pediatric Neurology, Columbia University, New York, USA aut DiMauro S. Department of Neurology, Columbia University, New York, USA aut Sue C. Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, St Leonard's, NSW, Australia aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 86-91 0141-8955 29:1<86 2006 29 10545 https://doi.org/10.1007/s10545-006-0148-8 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0148-8 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Shepherd R. Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, St Leonard's, NSW, Australia aut NATIONALLICENCE 700 1- Checcarelli N. Department of Neurology, Columbia University, New York, USA aut NATIONALLICENCE 700 1- Naini A. Department of Neurology, Columbia University, New York, USA aut NATIONALLICENCE 700 1- De Vivo D. Department of Pediatric Neurology, Columbia University, New York, USA aut NATIONALLICENCE 700 1- DiMauro S. Department of Neurology, Columbia University, New York, USA aut NATIONALLICENCE 700 1- Sue C. Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, St Leonard's, NSW, Australia aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 86-91 0141-8955 29:1<86 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer