{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T08:15:15Z","timestamp":1759565715878},"reference-count":42,"publisher":"Spandidos Publications","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,10]]},"DOI":"10.3892\/mmr.2013.1616","type":"journal-article","created":{"date-parts":[[2013,8,6]],"date-time":"2013-08-06T12:10:45Z","timestamp":1375791045000},"page":"1060-1066","source":"Crossref","is-referenced-by-count":8,"title":["A novel heteroplasmic mitochondrial DNA mutation, A8890G, in a patient with juvenile-onset metabolic syndrome: A case report"],"prefix":"10.3892","volume":"8","author":[{"given":"WEI","family":"YE","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"SAIHUI","family":"CHEN","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"SHENG","family":"JIN","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JIANXIN","family":"LU","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2249","published-online":{"date-parts":[[2013,8,6]]},"reference":[{"key":"key20180108013422_b1-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"1190","DOI":"10.1126\/science.1102521","article-title":"A cluster of metabolic defects caused by mutation in a mitochondrial tRNA","volume":"306","author":"Wilson","year":"2004","journal-title":"Science"},{"key":"key20180108013422_b2-mmr-08-04-1060","first-page":"1","article-title":"Prevalence of metabolic syndrome among adults 20 years of age and over, by sex, age, race and ethnicity and body mass index: United States, 2003\u20132006","volume":"5","author":"Ervin","year":"2009","journal-title":"Natl Health Stat Report"},{"key":"key20180108013422_b3-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"1323","DOI":"10.2337\/dc10-2109","article-title":"Increasing prevalence of metabolic syndrome in Korea: the Korean National Health and Nutrition Examination Survey for 1998\u20132007","volume":"34","author":"Lim","year":"2011","journal-title":"Diabetes Care"},{"key":"key20180108013422_b4-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1016\/S0140-6736(05)66375-1","article-title":"Prevalence of the metabolic syndrome and overweight among adults in China","volume":"365","author":"Gu","year":"2005","journal-title":"Lancet"},{"key":"key20180108013422_b5-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1186\/1471-2458-10-140","article-title":"Prevalence of the metabolic syndrome among rural original adults in NingXia, China","volume":"10","author":"Yi","year":"2010","journal-title":"BMC Public Health"},{"key":"key20180108013422_b6-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1016\/S0140-6736(05)67402-8","article-title":"The metabolic syndrome - a new worldwide definition","volume":"366","author":"Alberti","year":"2005","journal-title":"Lancet"},{"key":"key20180108013422_b7-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1093\/ajcn\/79.3.379","article-title":"Waist circumference and not body mass index explains obesity-related health risk","volume":"79","author":"Janssen","year":"2004","journal-title":"Am J Clin Nutr"},{"key":"key20180108013422_b8-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1016\/j.jada.2006.04.016","article-title":"Nutrigenetics, plasma lipids and cardiovascular risk","volume":"106","author":"Ordovas","year":"2006","journal-title":"J Am Diet Assoc"},{"key":"key20180108013422_b9-mmr-08-04-1060","first-page":"3989","article-title":"Comment: studies of the Pro12Ala polymorphism of the PPAR-gamma gene in the Danish MONICA cohort: homozygosity of the Ala allele confers a decreased risk of the insulin resistance syndrome","volume":"87","author":"Frederiksen","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"key20180108013422_b10-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/j.atherosclerosis.2003.08.029","article-title":"Interleukin-6 serum levels and genotypes influence the risk for myocardial infarction","volume":"171","author":"Bennet","year":"2003","journal-title":"Atherosclerosis"},{"key":"key20180108013422_b11-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1053\/meta.2002.34030","article-title":"An LMNA variant is associated with dyslipidemia and insulin resistance in the Japanese","volume":"51","author":"Murase","year":"2002","journal-title":"Metabolism"},{"key":"key20180108013422_b12-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"1708","DOI":"10.1161\/01.ATV.0000136384.53705.c9","article-title":"Variation in the lamin A\/C gene: associations with metabolic syndrome","volume":"24","author":"Steinle","year":"2004","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"key20180108013422_b13-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/j.mito.2010.01.001","article-title":"A common mitochondrial polymorphism 10398A>G is associated metabolic syndrome in a Chinese population","volume":"10","author":"Juo","year":"2010","journal-title":"Mitochondrion"},{"key":"key20180108013422_b14-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1016\/j.nut.2010.08.016","article-title":"T16189C mitochondrial DNA variant is associated with metabolic syndrome in Caucasian subjects","volume":"27","author":"Palmieri","year":"2011","journal-title":"Nutrition"},{"key":"key20180108013422_b15-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/290457a0","article-title":"Sequence and organization of the human mitochondrial genome","volume":"290","author":"Anderson","year":"1981","journal-title":"Nature"},{"key":"key20180108013422_b16-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1073\/pnas.94.2.514","article-title":"Mitochondrial DNA damage is more extensive and persists longer than nuclear DNA damage in human cells following oxidative stress","volume":"94","author":"Yakes","year":"1997","journal-title":"Proc Natl Acad Sci USA"},{"key":"key20180108013422_b17-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"26194","DOI":"10.1074\/jbc.271.42.26194","article-title":"Mitochondrial DNA is required for regulation of glucose-stimulated insulin secretion in a mouse pancreatic beta cell line, MIN6","volume":"271","author":"Soejima","year":"1996","journal-title":"J Biol Chem"},{"key":"key20180108013422_b18-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1196\/annals.1293.009","article-title":"Regulation and role of the mitochondrial transcription factor in the diabetic rat heart","volume":"1011","author":"Nishio","year":"2004","journal-title":"Ann NY Acad Sci"},{"key":"key20180108013422_b19-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1161\/01.RES.0000259591.97107.6c","article-title":"Defective mitochondrial biogenesis: a hallmark of the high cardiovascular risk in the metabolic syndrome?","volume":"100","author":"Nisoli","year":"2007","journal-title":"Circ Res"},{"key":"key20180108013422_b20-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1093\/nar\/26.4.967","article-title":"Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome","volume":"26","author":"Rieder","year":"1998","journal-title":"Nucleic Acids Res"},{"key":"key20180108013422_b21-mmr-08-04-1060","first-page":"1541","article-title":"The metabolic syndrome in children and adolescents","volume":"370","author":"Zimmet","year":"2007","journal-title":"Lancet"},{"key":"key20180108013422_b22-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1111\/j.1399-5448.2007.00271.x","article-title":"The metabolic syndrome in children and adolescents-an IDF consensus report","volume":"8","author":"Zimmet","year":"2007","journal-title":"Pediatr Diabetes"},{"key":"key20180108013422_b23-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"e16455","DOI":"10.1371\/journal.pone.0016455","article-title":"The mitochondrial T16189C polymorphism is associated with coronary artery disease in Middle European populations","volume":"6","author":"Mueller","year":"2011","journal-title":"PLoS One"},{"key":"key20180108013422_b24-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1038\/ng0892-368","article-title":"Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness","volume":"1","author":"van den Ouweland","year":"1992","journal-title":"Nat Genet"},{"key":"key20180108013422_b25-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"1641","DOI":"10.1093\/clinchem\/47.9.1641","article-title":"Mitochondrial gene mutations in the tRNA(Leu(UUR)) region and diabetes: prevalence and clinical phenotypes in Japan","volume":"47","author":"Ohkubo","year":"2001","journal-title":"Clin Chem"},{"issue":"Suppl 1","key":"key20180108013422_b26-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"S103","DOI":"10.2337\/diabetes.53.2007.S103","article-title":"Mitochondrial diabetes: molecular mechanisms and clinical presentation","volume":"53","author":"Maassen","year":"2004","journal-title":"Diabetes"},{"key":"key20180108013422_b27-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/S0014-5793(98)00928-4","article-title":"Impairment of tRNA processing by point mutations in mitochondrial tRNA(Leu)(UUR) associated with mitochondrial diseases","volume":"433","author":"Rossmanith","year":"1998","journal-title":"FEBS Lett"},{"key":"key20180108013422_b28-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"29744","DOI":"10.1074\/jbc.274.42.29744","article-title":"The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate","volume":"274","author":"Janssen","year":"1999","journal-title":"J Biol Chem"},{"key":"key20180108013422_b29-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"19198","DOI":"10.1074\/jbc.M908734199","article-title":"The mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes","volume":"275","author":"Chomyn","year":"2000","journal-title":"J Biol Chem"},{"key":"key20180108013422_b30-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"4251","DOI":"10.1074\/jbc.275.6.4251","article-title":"Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes","volume":"275","author":"Yasukawa","year":"2000","journal-title":"J Biol Chem"},{"key":"key20180108013422_b31-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1021\/bi026882r","article-title":"The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation","volume":"42","author":"Park","year":"2003","journal-title":"Biochemistry"},{"key":"key20180108013422_b32-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1001\/archpedi.162.7.682","article-title":"Why young adults hold the key to assessing the obesity epidemic in children","volume":"162","author":"Lee","year":"2008","journal-title":"Arch Pediatr Adolesc Med"},{"key":"key20180108013422_b33-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"8519","DOI":"10.1073\/pnas.151236798","article-title":"Energy-driven subunit rotation at the interface between subunit a and the c oligomer in the F(O) sector of Escherichia coli ATP synthase","volume":"98","author":"Hutcheon","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"key20180108013422_b34-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"1700","DOI":"10.1126\/science.286.5445.1700","article-title":"Molecular architecture of the rotary motor in ATP synthase","volume":"286","author":"Stock","year":"1999","journal-title":"Science"},{"key":"key20180108013422_b35-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1016\/j.bbabio.2007.05.005","article-title":"Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993","volume":"1767","author":"Baracca","year":"2007","journal-title":"Biochim Biophys Acta"},{"key":"key20180108013422_b36-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1212\/WNL.49.1.270","article-title":"Heterogeneous clinical presentation of the mtDNA NARP\/T8993G mutation","volume":"49","author":"Santorelli","year":"1997","journal-title":"Neurology"},{"key":"key20180108013422_b37-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1086\/301751","article-title":"De novo mtDNA nt 8993 (T\u2192G) mutation resulting in Leigh syndrome","volume":"62","author":"Takahashi","year":"1998","journal-title":"Am J Hum Genet"},{"key":"key20180108013422_b38-mmr-08-04-1060","first-page":"852","article-title":"Heteroplasmic mtDNA mutation (T\u2192G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high","volume":"50","author":"Tatuch","year":"1992","journal-title":"Am J Hum Genet"},{"key":"key20180108013422_b39-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1093\/hmg\/ddh103","article-title":"The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants","volume":"13","author":"Mattiazzi","year":"2004","journal-title":"Hum Mol Genet"},{"key":"key20180108013422_b40-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1042\/BJ20051748","article-title":"Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA","volume":"395","author":"Sgarbi","year":"2006","journal-title":"Biochem J"},{"key":"key20180108013422_b41-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1006\/bbrc.1993.1390","article-title":"The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria","volume":"192","author":"Tatuch","year":"1993","journal-title":"Biochem Biophys Res Commun"},{"issue":"Suppl 2","key":"key20180108013422_b42-mmr-08-04-1060","doi-asserted-by":"crossref","first-page":"S229","DOI":"10.1093\/humrep\/15.suppl_2.229","article-title":"Mitochondrial DNA segregation in the developing embryo","volume":"15","author":"Shoubridge","year":"2000","journal-title":"Hum Reprod"}],"container-title":["Molecular Medicine Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/spandidos-publications.com\/10.3892\/mmr.2013.1616\/download","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T13:56:58Z","timestamp":1596290218000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.spandidos-publications.com\/10.3892\/mmr.2013.1616"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,6]]},"references-count":42,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2013,8,6]]},"published-print":{"date-parts":[[2013,10]]}},"alternative-id":["10.3892\/mmr.2013.1616"],"URL":"https:\/\/doi.org\/10.3892\/mmr.2013.1616","relation":{},"ISSN":["1791-2997","1791-3004"],"issn-type":[{"value":"1791-2997","type":"print"},{"value":"1791-3004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,6]]}}}