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Property "Has-20abstract" (as page type) with input value "Dysfunction-20of-20mitochondrial-20ATPase-20(F1Fo-2DATP-20synthase)-20due-20to-20missense-20mutations-20in-20ATP6-20-5BmtDNA-20(mitochondrial-20DNA)-2Dencoded-20subunit-20a-5D-20is-20a-20frequent-20cause-20of-20severe-20mitochondrial-20encephalomyopathies.-20We-20have-20investigated-20a-20rare-20mtDNA-20mutation,-20i.e.-20a-202-20bp-20deletion-20of-20TA-20at-20positions-209205-20and-209206-20(9205ΔTA),-20which-20affects-20the-20STOP-20codon-20of-20the-20ATP6-20gene-20and-20the-20cleavage-20site-20between-20the-20RNAs-20for-20ATP6-20and-20COX3-20(cytochrome-20c-20-20oxidase-203).-20The-20mutation-20was-20present-20at-20increasing-20load-20in-20a-20three-2Dgeneration-20family-20(in-20blood:-2016-25-2F82-25-2F-3E98-25).-20In-20the-20affected-20boy-20with-20severe-20encephalopathy,-20a-20homoplasmic-20mutation-20was-20present-20in-20blood,-20fibroblasts-20and-20muscle.-20The-20fibroblasts-20from-20the-20patient-20showed-20normal-20aurovertin-2Dsensitive-20ATPase-20hydrolytic-20activity,-20a-2070-25-20decrease-20in-20ATP-20synthesis-20and-20an-2085-25-20decrease-20in-20COX-20activity.-20ADP-2Dstimulated-20respiration-20and-20the-20ADP-2Dinduced-20decrease-20in-20the-20mitochondrial-20membrane-20potential-20at-20state-204-20were-20decreased-20by-2050-25.-20The-20content-20of-20subunit-20a-20was-20decreased-2010-2Dfold-20compared-20with-20other-20ATPase-20subunits,-20and-20-5B35S-5D-2Dmethionine-20labelling-20showed-20a-209-2Dfold-20decrease-20in-20subunit-20a-20biosynthesis.-20The-20content-20of-20COX-20subunits-201,-204-20and-206c-20was-20decreased-20by-2030–60-25.-20Northern-20Blot-20and-20quantitative-20real-2Dtime-20reverse-20transcription–PCR-20analysis-20further-20demonstrated-20that-20the-20primary-20ATP6-20–-20COX3-20transcript-20is-20cleaved-20to-20the-20ATP6-20and-20COX3-20mRNAs-202–3-2Dfold-20less-20efficiently.-20Structural-20studies-20by-20Blue-2DNative-20and-20two-2Ddimensional-20electrophoresis-20revealed-20an-20altered-20pattern-20of-20COX-20assembly-20and-20instability-20of-20the-20ATPase-20complex,-20which-20dissociated-20into-20subcomplexes.-20The-20results-20indicate-20that-20the-209205ΔTA-20mutation-20prevents-20the-20synthesis-20of-20ATPase-20subunit-20a,-20and-20causes-20the-20formation-20of-20incomplete-20ATPase-20complexes-20that-20are-20capable-20of-20ATP-20hydrolysis-20but-20not-20ATP-20synthesis.-20The-20mutation-20also-20affects-20the-20biogenesis-20of-20COX,-20which-20is-20present-20in-20a-20decreased-20amount-20in-20cells-20from-20affected-20inspaniduals." contains invalid characters or is incomplete and therefore can cause unexpected results during a query or annotation process.

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