{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T09:13:44Z","timestamp":1773306824124,"version":"3.50.1"},"reference-count":0,"publisher":"Portland Press Ltd.","issue":"3","content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[1997,3,1]]},"abstract":"<jats:p>1. Mitochondrial DNA has a number of interesting properties including maternal transmission, the ability to replicate in post-mitotic cells, a high mutation rate and an extremely compact molecular architecture with no introns and no large non-coding sequences.<\/jats:p>\n               <jats:p>2. Point mutations, deletions and duplications of mitochondrial DNA may occur. Mitochondrial DNA defects may co-exist with wild-type sequence within a cell (heteroplasmy). The level of heteroplasmy may vary in different tissues within the same individual (segregative replication).<\/jats:p>\n               <jats:p>3. A number of neurological disorders are characterized by morphological and biochemical mitochondrial defects. It is now clear that mitochondrial DNA mutations underlie these conditions although there is not always a clear correlation between a particular mutation and clinical presentation.<\/jats:p>\n               <jats:p>4. Mitochondrial DNA defects, particularly deletions, accumulate in senescent tissue and studies have been performed with the aim of linking such somatic mutations with degenerative disorders.<\/jats:p>\n               <jats:p>5. Recently mitochondrial DNA mutations have been implicated in a wider range of clinical disorders including diabetes and nerve deafness.<\/jats:p>\n               <jats:p>6. Nuclear gene defects may result in mitochondrial disorders by predisposing to multiple mitochondrial DNA deletions or quantitative depletions of mitochondrial DNA content.<\/jats:p>","DOI":"10.1042\/cs0920225","type":"journal-article","created":{"date-parts":[[2015,8,7]],"date-time":"2015-08-07T11:39:42Z","timestamp":1438947582000},"page":"225-235","update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Mitochondrial DNA Defects: A Widening Clinical Spectrum of Disorders"],"prefix":"10.1042","volume":"92","author":[{"given":"Emma J.","family":"Sherratt","sequence":"first","affiliation":[{"name":"Department of Medicine, University of Wales College of Medicine, Cardiff, U.K."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew W.","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Wales College of Medicine, Cardiff, U.K."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John C.","family":"Alcolado","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Wales College of Medicine, Cardiff, U.K."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"288","container-title":["Clinical Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/portlandpress.com\/clinsci\/article-pdf\/92\/3\/225\/466375\/cs0920225.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/portlandpress.com\/clinsci\/article-pdf\/92\/3\/225\/466375\/cs0920225.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T23:18:55Z","timestamp":1638400735000},"score":1,"resource":{"primary":{"URL":"https:\/\/portlandpress.com\/clinsci\/article\/92\/3\/225\/77030\/Mitochondrial-DNA-Defects-A-Widening-Clinical"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,3,1]]},"references-count":0,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1997,3,1]]}},"URL":"https:\/\/doi.org\/10.1042\/cs0920225","relation":{},"ISSN":["0143-5221","1470-8736"],"issn-type":[{"value":"0143-5221","type":"print"},{"value":"1470-8736","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,3,1]]}}}