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The properties that make it a candidate for the source of such conditions are that it encodes polypeptides involved in electron transport<jats:sup>(3,4)<\/jats:sup> and that it is maternally inherited<jats:sup>(5)<\/jats:sup>. However, several of the mtDNA diseases only fulfill one or other of these criteria: the first group of mtDNA diseases showed Only sporadic deletions<jats:sup>(6,7)<\/jats:sup>, and the first point mutation in Leber's Hereditary Optic Neuropathy<jats:sup>(8)<\/jats:sup> (LHON) is not associated with a clear biochemical defect. Furthermore, it is now clear that both autosomal dominant<jats:sup>(9)<\/jats:sup> and probably recessive<jats:sup>(10)<\/jats:sup> nuclear genes can cause abnormalities of mtDNA. Each of these major groups will be considered in turn.<\/jats:p>","DOI":"10.1002\/bies.950141108","type":"journal-article","created":{"date-parts":[[2005,2,25]],"date-time":"2005-02-25T10:29:19Z","timestamp":1109327359000},"page":"763-768","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Mitochondrial DNA and genetic disease"],"prefix":"10.1002","volume":"14","author":[{"given":"Jo","family":"Poulton","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,2,5]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/290457a0"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1159\/000132809"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0074-7696(08)61373-X"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.cb.04.110188.001445"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.11.6715"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/331717a0"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198905183202001"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.3201231"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/339309a0"},{"key":"e_1_2_1_11_2","first-page":"492","article-title":"mtDNA Depletion with Variable Tissue Expression: A Novel Genetic Abnormality in Mitochondrial Diseases","volume":"48","author":"Moraes C. 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