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Property "Has-20abstract" (as page type) with input value "-5B-5BFile:Towheed-20MA.jpg-7Cright-7C200px-7CMohammad-20Atif-20Towheed-5D-5D-0AMitochondrial-20missense-20mutations-20lead-20to-20devastating-20disorders-20in-20humans-20known-20as-20mitochondrial-20encephalomyopathies.-20Our-20lab-20has-20previously-20identified-20a-20pathogenic-20mutation-20(G116E)-20in-20Drosophila-20ATP6,-20which-20is-20a-20subunit-20of-20Complex-20V-20of-20the-20mitochondrial-20electron-20transport-20chain.-20This-20mutation-20causes-20progressive-20neuromuscular-20dysfunction-20and-20myodegeneration,-20and-20is-20a-20model-20for-20human-20mitochondrial-20disorders-20such-20as-20NARP-20(neuropathy,-20ataxia,-20and-20retinitis-20pigmentosa),-20MILS-20(maternally-20inherited-20Leigh's-20syndrome),-20and-20FBSN-20(familial-20bilateral-20striatal-20necrosis).-20-0AThe-20underlying-20pathophysiology-20of-20these-20mutant-20flies-20is-20not-20clearly-20understood.-20In-20addition-20to-20shortened-20lifespan,-20myopathy-20and-20neural-20dysfunction,-20these-20flies-20also-20exhibit-20abnormal-20mitochondrial-20morphology-20in-20~60-25-20of-20its-20mitochondria.-20The-20mitochondrial-20cristae-20are-20dilated-20as-20opposed-20to-20flat-20cristae-20in-20wild-2Dtype-20flies.-20Complex-20V-20is-20unable-20to-20efficiently-20dimerize-20and-20ATP-20synthase-20activity-20is-20severely-20diminished-20in-20ATP6-20-5B1-5D-20flies-20-5B1-5D.-20However,-20complex-20V-20ATPase-20activity-20is-20detectable-20and-20the-20membrane-20potential-20is-20not-20affected.-20These-20mutant-20flies-20also-20show-20an-20increase-20in-20ROS-20as-20a-20function-20of-20age.-20Earlier-20studies-20suggest-20that-20the-20complexes-20of-20the-20electron-20transport-20chain-20play-20a-20role-20in-20maintaining-20normal-20mitochondrial-20cristae-20morphology-20-5B2,3-5D.-20We-20hypothesize-20that-20this-20missense-20mutation-20affects-20Complex-20V-20dimerization-20as-20it-20lies-20at-20the-20dimer-20interface-20and-20contributes-20significantly-20to-20the-20pathogenesis.-20To-20test-20our-20hypothesis,-20we-20use-20RNAi-20to-20knock-20down-20subunits-20ATPe-20and-20ATPg-20that-20are-20known-20to-20assist-20in-20ATP-20synthase-20dimerization-20-5B4,5-5D.-20-0ASince,-20mitochondrial-20disorders-20have-20a-20tissue-20specific-20pattern-20of-20presentation,-20we-20examine-20which-20tissue-20contributes-20to-20the-20pathophysiology-20most-20by-20using-20specific-20GAL4-20fly-20lines.-20ATPe-20and-2For-20ATPg-20are-20knocked-20down-20in-20either-20muscle-20or-20neuronal-20tissues-20and-20their-20motor-20function-20and-20life-20spans-20are-20tested.-20In-20addition,-20we-20are-20investigating-20the-20altered-20physiology-20of-20the-20mitochondria-20in-20these-20mutants.-20To-20determine-20how-20the-20ATP6-20-5B1-5D-20flies-20use-20their-20mitochondrial-20electron-20transport-20chain,-20we-20will-20investigate-20the-20mitochondrial-20oxidative-20phosphorylation-20using-20high-2Dresolution-20respirometry.-20Respirometry-20and-20measures-20of-20biochemical-20activities-20of-20mitochondrial-20specific-20enzymes-20will-20help-20to-20elucidate-20the-20pathophysiology-20of-20mitochondrial-20diseases-20-27-27in-20vivo-27-27.-0A-0AReferences:-20-0A-0A-5B1-5D-20-5Bhttp:-2F-2Fwww.ncbi.nlm.nih.gov-2Fpubmed-2F16421301-20Celotto-20AM,-20Frank-20AC,-20McGrath-20SW,-20Fergestad-20T,-20Van-20Voorhies-20WA,-20Buttle-20KF,-20Mannella-20CA,-20Palladino-20MJ-20(2006)-20Mitochondrial-20encephalomyopathy-20in-20Drosophila.-20J-20Neurosci-2026:-20810-2D820-20Open-20Access-5D-0A-0A-5B2-5D-20-5Bhttp:-2F-2Fwww.ncbi.nlm.nih.gov-2Fpubmed-3Fterm=Structure-2520of-2520dimeric-2520ATP-2520synthase-2520from-2520mitochondria-253A-2520an-2520angular-2520association-2520of-2520monomers-2520induces-2520the-2520strong-2520curvature-2520of-2520the-2520inner-2520membrane-20Dudkina-20NV,-20Heinemeyer-20J,-20Keegstra-20W,-20Boekema-20EJ,-20Braun-20HP-20(2005)-20Structure-20of-20dimeric-20ATP-20synthase-20from-20mitochondria:-20an-20angular-20association-20of-20monomers-20induces-20the-20strong-20curvature-20of-20the-20inner-20membrane.-20FEBS-20Lett-20579:-205769-2D5772-5D-0A-0A-5B3-5D-20-5Bhttp:-2F-2Fwww.ncbi.nlm.nih.gov-2Fpubmed-3Fterm=Dimer-2520ribbons-2520of-2520ATP-2520synthase-2520shape-2520the-2520inner-2520mitochondrial-2520membrane-20Strauss-20M,-20Hofhaus-20G,-20Schroeder-20RR,-20Kühlbrandt-20W-20(2008)-20Dimer-20ribbons-20of-20ATP-20synthase-20shape-20the-20inner-20mitochondrial-20membrane.-20EMBO-20J-2027:-201154-2D1160-20Open-20Access-5D" contains invalid characters or is incomplete and therefore can cause unexpected results during a query or annotation process.

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