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MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, cardiomyopathy, cataracts, growth retardation, diabetes, etc. nDNA mutations can cause Leigh syndrome, cardiomyopathy, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; cartilage\u2010hair hypoplasia (CHH) and mtDNA depletion syndrome, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator\u20101 (ANT1) mutations. Mouse models have been prepared that recapitulate a number of these diseases. The mtDNA 16S rRNA chloramphenicol (CAP) resistance mutation was introduced into the mouse female germline and caused cataracts and rod and cone abnormalities in chimeras and neonatal lethal myopathy and cardiomyopathy in mutant animals. A mtDNA deletion was introduced into the mouse germline and caused myopathy, cardiomyopathy, and nephropathy. Conditional inactivation of the nDNA mitochondrial transcription factor (Tfam) gene in the heart resulted in neonatal lethal cardiomyopathy, while its inactivation in the pancreatic \u03b2\u2010cells caused diabetes. The ATP\/ADP ratio was implicated in mitochondrial diabetes through transgenic modification of the \u03b2\u2010cell ATP\u2010sensitive K<jats:sup>+<\/jats:sup> channel (K<jats:sub>ATP<\/jats:sub>). Mutational inactivation of the mouse <jats:italic>Ant1<\/jats:italic> gene resulted in myopathy, cardiomyopathy, and multiple mtDNA deletions in association with elevated reactive oxygen species (ROS) production. Inactivation of uncoupler proteins (Ucp) 1\u20133 revealed that mitochondrial \u0394\u03c8 regulated ROS production. The role of mitochondrial ROS toxicity in disease and aging was confirmed by inactivating glutathione peroxidase (<jats:italic>GPx1)<\/jats:italic>, resulting in growth retardation, and by total and partial inactivation of Mn superoxide dismutase (MnSOD; <jats:italic>Sod2)<\/jats:italic>, resulting in neonatal lethal dilated cardiomyopathy and accelerated apoptosis in aging, respectively. The importance of mitochondrial ROS in degenerative diseases and aging was confirmed by treating <jats:italic>Sod2<\/jats:italic> \u2212\/\u2212 mice and <jats:italic>C. elegans<\/jats:italic> with catalytic antioxidant drugs. \u00a9 2001 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1393","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T11:25:39Z","timestamp":1033903539000},"page":"71-93","source":"Crossref","is-referenced-by-count":139,"title":["Mouse models for mitochondrial disease"],"prefix":"10.1002","volume":"106","author":[{"given":"Douglas C.","family":"Wallace","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,10,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0885-4505(91)90032-G"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(94)90778-1"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/79216"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.17.7915"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/82565"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0492-11"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0894-458"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0891-5849(90)90152-9"},{"key":"e_1_2_7_10_1","doi-asserted-by":"crossref","first-page":"4355","DOI":"10.1016\/S0021-9258(18)61355-9","article-title":"Molecular cloning of a cDNA for a human ADP\/ATP carrier which is growth\u2010regulated","volume":"262","author":"Battini R","year":"1987","journal-title":"J Biol Chem"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/9.21.5785"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.6.3789"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4439(94)90061-2"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(97)00384-0"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(84)05060-6"},{"key":"e_1_2_7_16_1","first-page":"84","volume-title":"Chemical and biochemical aspects of superoxide and superoxide dismutase. 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