Fernandez-Vizarra 2013 Abstract IOC80: Difference between revisions
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|tissues=Heart, Skeletal muscle, Nervous system, Liver, Kidney | |tissues=Heart, Skeletal muscle, Nervous system, Liver, Kidney | ||
|model cell lines=HEK, HeLa, Neuroblastoma, Fibroblast, Other cell lines | |model cell lines=HEK, HeLa, Neuroblastoma, Fibroblast, Other cell lines | ||
|preparations=Intact cells, Permeabilized cells, Permeabilized tissue, Isolated | |preparations=Intact cells, Permeabilized cells, Permeabilized tissue, Isolated mitochondria | ||
|enzymes=Complex I, Complex II; | |enzymes=Complex I, Complex II;succinate dehydrogenase, Complex III, Complex IV; Cytochrome c Oxidase, Complex V;ATP synthase, Supercomplex | ||
|injuries=Mitochondrial | |injuries=Mitochondrial disease | ||
|diseases=Myopathy, Neurodegenerative, Other | |diseases=Myopathy, Neurodegenerative, Other | ||
|topics=ADP, ATP, Flux control, Inhibitor, Uncoupler | |topics=ADP, ATP, Flux control, Inhibitor, Uncoupler | ||
|couplingstates=LEAK, ROUTINE, OXPHOS | |couplingstates=LEAK, ROUTINE, OXPHOS | ||
|substratestates=CI, CII, ETF, GpDH, CIII, CIV, CI | |substratestates=CI, CII, ETF, GpDH, CIII, CIV, CI&II | ||
|instruments=Oxygraph-2k | |instruments=Oxygraph-2k | ||
|link= | |link= |
Revision as of 15:48, 10 February 2015
Fernandez-Vizarra E (2013) Testing OXPHOS biogenesis and function in mitochondrial disease models. Mitochondr Physiol Network 18.09. |
Link: IOC80 Schroecken
Fernandez-Vizarra E, Reyes A, Viscomi C, Zeviani M (2013)
Event: IOC80
Our laboratory is mainly interested in the discovery of new genes whose mutations cause oxidative phosphorylation (OXPHOS) defects in human tissues, leading to mitochondrial disease syndromes. Once a candidate mutant gene is identified, usually by linkage or NGS analysis, our aim is to validate the pathogenic role of the mutation and understand the molecular mechanism linking the variant protein to faulty OXPHOS and disease. This goal can be achieved by studying tissue samples obtained from the patients, usually muscle biopsies and cultured fibroblasts from skin biopsies. Additionally, knocked-down expression of the candidate gene product can be achieved by RNAi technology applied to cultured cell lines. Furthermore, mouse knock-out models for the gene of interest can eventually be generated to gain deeper understanding of the biochemical and pathophysiological effects associated with the lack of the protein in living tissues, and whole organism. To test OXPHOS functionality in this wide spectrum of tissues and cells from patients as well as in the ad hoc recombinant models, we will perform oxygen consumption measurements in basal conditions and on exposure to specific substrates and inhibitors. This first characterization will provide key information to then continue with the analyses of physical status of OXPHOS-related complexes and their individual activities.
• Keywords: Mitochondrial Respiratory Chain assembly disorders
Labels: MiParea: Respiration, Instruments;methods, mtDNA;mt-genetics, nDNA;cell genetics, Genetic knockout;overexpression, mt-Medicine, Patients Pathology: Myopathy, Neurodegenerative, Other Stress:Mitochondrial disease Organism: Human, Mouse Tissue;cell: Heart, Skeletal muscle, Nervous system, Liver, Kidney Preparation: Intact cells, Permeabilized cells, Permeabilized tissue, Isolated mitochondria Enzyme: Complex I, Complex II;succinate dehydrogenase, Complex III, Complex IV; Cytochrome c Oxidase"Complex IV; Cytochrome c Oxidase" is not in the list (Adenine nucleotide translocase, Complex I, Complex II;succinate dehydrogenase, Complex III, Complex IV;cytochrome c oxidase, Complex V;ATP synthase, Inner mt-membrane transporter, Marker enzyme, Supercomplex, TCA cycle and matrix dehydrogenases, ...) of allowed values for the "Enzyme" property., Complex V;ATP synthase, Supercomplex Regulation: ADP, ATP, Flux control, Inhibitor, Uncoupler Coupling state: LEAK, ROUTINE, OXPHOS
HRR: Oxygraph-2k
Affiliation
MRC Mitochondrial Biology Unit, Wellcome Trust/MRC Building, Hills Road, CB2 0XY Cambridge, UK.