{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T04:13:36Z","timestamp":1779250416765,"version":"3.51.4"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,1,9]],"date-time":"2006-01-09T00:00:00Z","timestamp":1136764800000},"content-version":"vor","delay-in-days":253,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of the New York Academy of Sciences"],"published-print":{"date-parts":[[2005,5]]},"abstract":"<jats:p><jats:bold>A<jats:sc>bstract<\/jats:sc>: <\/jats:bold> The COII\/tRNA<jats:sup>Lys<\/jats:sup> intergenic 9\u2010bp deletion (MIC9D) of mitochondrial DNA (mtDNA) has been established as a genetic polymorphism for Asian\u2010Pacific populations. We investigated whether this small mtDNA deletion is co\u2010transmitted with human diseases such as mitochondrial encephalomyopathy with lactic acidosis and stroke\u2010like episodes (MELAS) and myoclonic epilepsy with ragged\u2010red fibers (MERRF) syndromes. Forty unrelated Taiwanese families, including 12 families with MERRF and A8344G mtDNA mutation and 28 families with MELAS and A3243G mutation of mtDNA, respectively, were recruited in this study. In addition, 199 healthy subjects were recruited as control. We found that the frequency of occurrence of mtDNA with the MIC9D polymorphism in healthy subjects was 21% (41\/199). However, the incidence of the MIC9D polymorphism was 67% (8\/12) among the probands of all the families with MERRF syndrome (<jats:styled-content><jats:italic>P<\/jats:italic>= 0.001<\/jats:styled-content>; <jats:styled-content>OR = 8<\/jats:styled-content>) and 39% (11\/28) among the probands of the families with MELAS syndrome (<jats:styled-content><jats:italic>P<\/jats:italic>= 0.038<\/jats:styled-content>; <jats:styled-content>OR = 2<\/jats:styled-content>). This finding indicates that the frequency of occurrence of mtDNA with the MIC9D polymorphism in patients with MERRF or MELAS syndrome is higher than that of healthy subjects. The prevalence of mitochondrial encephalomyopathies in relation to the MIC9D polymorphism of mtDNA in Taiwanese population is discussed.<\/jats:p>","DOI":"10.1196\/annals.1338.058","type":"journal-article","created":{"date-parts":[[2005,6,17]],"date-time":"2005-06-17T21:58:11Z","timestamp":1119045491000},"page":"82-87","source":"Crossref","is-referenced-by-count":11,"title":["High Prevalence of the COII\/tRNA<sup>Lys<\/sup> Intergenic 9\u2010bp Deletion in Mitochondrial DNA of Taiwanese Patients with MELAS or MERRF Syndrome"],"prefix":"10.1111","volume":"1042","author":[{"given":"CHIN\u2010SAN","family":"LIU","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"WEN\u2010LING","family":"CHENG","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"YI\u2010YUN","family":"CHEN","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"YI\u2010SHING","family":"MA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"CHENG\u2010YOONG","family":"PANG","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"YAU\u2010HUEI","family":"WEI","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,1,9]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/104.4.699"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.2.529"},{"key":"e_1_2_6_4_2","first-page":"326","article-title":"Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan","volume":"98","author":"Pang C.Y.","year":"1999","journal-title":"J. Formos. Med. Assoc."},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.57.5.586"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000403"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2370.1999.00184.x"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s100380170098"},{"key":"e_1_2_6_9_2","first-page":"504","article-title":"An Asian\u2010specific 9\u2010bp deletion of mitochondrial DNA is frequently found in Polynesians","volume":"44","author":"Hertzberg M.","year":"1989","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_6_10_2","first-page":"1706","article-title":"Structure and diversity of the mitochondrial gene pool of the aboriginal population of Tuva and Buriatia from restriction polymorphism data","volume":"35","author":"Derenko M.V.","year":"1999","journal-title":"Genetika"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8644(199906)109:2<147::AID-AJPA1>3.0.CO;2-C"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.74.8.1158"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200008)48:2<188::AID-ANA8>3.0.CO;2-P"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.75"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb04099.x"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1293.019"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200463"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.16.1797"}],"container-title":["Annals of the New York Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1196%2Fannals.1338.058","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/nyaspubs.onlinelibrary.wiley.com\/doi\/pdf\/10.1196\/annals.1338.058","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T10:03:49Z","timestamp":1695636229000},"score":1,"resource":{"primary":{"URL":"https:\/\/nyaspubs.onlinelibrary.wiley.com\/doi\/10.1196\/annals.1338.058"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,5]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,5]]}},"alternative-id":["10.1196\/annals.1338.058"],"URL":"https:\/\/doi.org\/10.1196\/annals.1338.058","archive":["Portico"],"relation":{},"ISSN":["0077-8923","1749-6632"],"issn-type":[{"value":"0077-8923","type":"print"},{"value":"1749-6632","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,5]]}}}