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Point mutations in the human mitochondrial<jats:italic>ATP6<\/jats:italic>gene are known to cause several related mitochondrial disorders: NARP (neuropathy, ataxia, and retinitis pigmentosa), MILS (maternally inherited Leigh's syndrome), and FBSN (familial bilateral striatal necrosis). We identified a pathogenic mutation in the<jats:italic>Drosophila<\/jats:italic>mitochondrial<jats:italic>ATP6<\/jats:italic>gene that causes progressive, adult-onset neuromuscular dysfunction and myodegeneration. Our results demonstrate ultrastructural defects in the mitochondrial innermembrane, neural dysfunction, and a marked reduction in mitochondrial ATP synthase activity associated with this mutation. This<jats:italic>Drosophila<\/jats:italic>mutant recapitulates key features of the human neuromuscular disorders enabling detailed<jats:italic>in vivo<\/jats:italic>studies of these enigmatic diseases.<\/jats:p>","DOI":"10.1523\/jneurosci.4162-05.2006","type":"journal-article","created":{"date-parts":[[2006,1,18]],"date-time":"2006-01-18T20:03:05Z","timestamp":1137614585000},"page":"810-820","source":"Crossref","is-referenced-by-count":61,"title":["Mitochondrial Encephalomyopathy in<i>Drosophila<\/i>"],"prefix":"10.1523","volume":"26","author":[{"given":"Alicia M.","family":"Celotto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam C.","family":"Frank","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven W.","family":"McGrath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Fergestad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wayne A.","family":"Van Voorhies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karolyn F.","family":"Buttle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen A.","family":"Mannella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Palladino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"393","published-online":{"date-parts":[[2006,1,18]]},"reference":[{"key":"2023041303162548000_26.3.810.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2004.10.013"},{"key":"2023041303162548000_26.3.810.2","doi-asserted-by":"publisher","DOI":"10.1086\/515453"},{"key":"2023041303162548000_26.3.810.3","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.66.1.717"},{"key":"2023041303162548000_26.3.810.4","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1212\/WNL.49.2.595","volume":"49","year":"1997","journal-title":"Neurology"},{"key":"2023041303162548000_26.3.810.5","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.5.687"},{"key":"2023041303162548000_26.3.810.6","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(95)00184-H"},{"key":"2023041303162548000_26.3.810.7","doi-asserted-by":"publisher","DOI":"10.1006\/jsbi.1999.4147"},{"key":"2023041303162548000_26.3.810.8","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410340319"},{"key":"2023041303162548000_26.3.810.9","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1111\/j.1750-3639.2000.tb00275.x","volume":"10","year":"2000","journal-title":"Brain Pathol"},{"key":"2023041303162548000_26.3.810.10","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra022567"},{"key":"2023041303162548000_26.3.810.11","doi-asserted-by":"publisher","DOI":"10.1006\/jsbi.2001.4406"},{"key":"2023041303162548000_26.3.810.12","doi-asserted-by":"publisher","DOI":"10.1006\/jsbi.1996.0030"},{"key":"2023041303162548000_26.3.810.13","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(00)01609-1"},{"key":"2023041303162548000_26.3.810.14","doi-asserted-by":"publisher","DOI":"10.1136\/adc.71.5.419"},{"key":"2023041303162548000_26.3.810.15","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1093\/genetics\/100.4.597","volume":"100","year":"1982","journal-title":"Genetics"},{"key":"2023041303162548000_26.3.810.16","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.30.2.269"},{"key":"2023041303162548000_26.3.810.17","doi-asserted-by":"crossref","unstructured":"Hart PE, DeVivo DC, Schapira AHV (2002) Mitochondrial disorders in neurology 2, Ed 2, pp 35\u201368. 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