{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T16:16:00Z","timestamp":1775146560613,"version":"3.50.1"},"reference-count":26,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T00:00:00Z","timestamp":1717113600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) usually present with multisystemic dysfunction with a wide range of clinical manifestations. When the tests for common mitochondrial DNA (mtDNA) point mutations are negative and the mtDNA defects hypothesis remains, urine epithelial cells can be used to screen the mitochondrial genome for unknown mutations to confirm the diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>A 66-year-old Chinese woman presented with symptoms of MELAS and was initially misdiagnosed with acute encephalitis at another institution. Although genetic analysis of blood lymphocyte DNA was negative, brain imaging, including magnetic resonance imaging, magnetic resonance spectroscopy, and clinical and laboratory findings, were all suggestive of MELAS. Finally, the patient was eventually diagnosed with MELAS with the mtDNA 5783G&amp;gt;A mutation in the MT-TC gene with a urinary sediment genetic test.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case report expands the genetic repertoire associated with MELAS syndrome and highlights the importance that full mtDNA sequencing should be warranted beside the analysis of classical variants when a mitochondrial disorder is highly suspected. Furthermore, urine sediment genetic testing has played a crucial role in the diagnosis of MELAS.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fgene.2024.1367716","type":"journal-article","created":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T04:28:10Z","timestamp":1717129690000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Case report: Late-onset MELAS syndrome with mtDNA 5783G&gt;A mutation diagnosed by urinary sediment genetic testing"],"prefix":"10.3389","volume":"15","author":[{"given":"Hao","family":"Cai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li-Min","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miao","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuying","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pan","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,5,31]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1002\/path.4809","article-title":"The genetics and pathology of mitochondrial disease","volume":"241","author":"Alston","year":"2017","journal-title":"J. Pathol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"2576","DOI":"10.1093\/brain\/awy209","article-title":"SYT1-associated neurodevelopmental disorder: a case series","volume":"141","author":"Baker","year":"2018","journal-title":"Brain"},{"key":"B3","doi-asserted-by":"publisher","first-page":"2216","DOI":"10.1002\/ajmg.a.31436","article-title":"Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness","volume":"140","author":"Feigenbaum","year":"2006","journal-title":"Am. J. Med. Genet. a"},{"key":"B4","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1136\/jmg.2005.039339","article-title":"Tissue specific distribution of the 3243A->G mtDNA mutation","volume":"43","author":"Frederiksen","year":"2006","journal-title":"J. Med. Genet."},{"key":"B5","doi-asserted-by":"publisher","first-page":"S107","DOI":"10.1002\/mus.880181422","article-title":"Clinical features of MELAS and mitochondrial DNA mutations","volume":"3","author":"Goto","year":"1995","journal-title":"Muscle Nerve Suppl."},{"key":"B6","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1212\/wnl.42.3.545","article-title":"Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation","volume":"42","author":"Goto","year":"1992","journal-title":"Neurology"},{"key":"B7","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1038\/348651a0","article-title":"A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies","volume":"348","author":"Goto","year":"1990","journal-title":"Nature"},{"key":"B8","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1002\/ajmg.a.20456","article-title":"Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation","author":"Gropman","year":"2004","journal-title":"Am. J. Med. Genet. a"},{"key":"B9","doi-asserted-by":"publisher","first-page":"1965","DOI":"10.1212\/WNL.0b013e31823a0c7f","article-title":"Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype","volume":"77","author":"Kaufmann","year":"2011","journal-title":"Neurology"},{"key":"B10","doi-asserted-by":"publisher","first-page":"547","DOI":"10.2169\/internalmedicine.7767-21","article-title":"Myoclonic epilepsy with ragged-red fibers with intranuclear inclusions","volume":"61","author":"Kawazoe","year":"2022","journal-title":"Intern. Med."},{"key":"B11","doi-asserted-by":"publisher","first-page":"710","DOI":"10.1212\/01.WNL.0000151976.60624.01","article-title":"L-arginine improves the symptoms of strokelike episodes in MELAS","volume":"64","author":"Koga","year":"2005","journal-title":"Neurology"},{"key":"B12","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1038\/s41587-020-0645-6","article-title":"Massively parallel single-cell mitochondrial DNA genotyping and chromatin profiling","volume":"39","author":"Lareau","year":"2021","journal-title":"Nat. Biotechnol."},{"key":"B13","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1016\/s0140-6736(99)05225-3","article-title":"Mitochondrial respiratory chain disorders I: mitochondrial DNA defects","volume":"355","author":"Leonard","year":"2000","journal-title":"Lancet"},{"key":"B14","doi-asserted-by":"publisher","first-page":"959","DOI":"10.1590\/0004-282X20150154","article-title":"When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?","volume":"73","author":"Lorenzoni","year":"2015","journal-title":"Arq. Neuro-Psiquiat"},{"key":"B16","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1016\/j.mito.2009.01.004","article-title":"The study of mitochondrial A3243G mutation in different samples","volume":"9","author":"Ma","year":"2009","journal-title":"Mitochondrion"},{"key":"B17","doi-asserted-by":"publisher","first-page":"1586","DOI":"10.1212\/wnl.43.8.1586","article-title":"Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation","volume":"43","author":"Macmillan","year":"1993","journal-title":"Neurology"},{"key":"B18","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1007\/BF00878873","article-title":"Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA","volume":"242","author":"Mariotti","year":"1995","journal-title":"J. Neurol."},{"key":"B19","doi-asserted-by":"publisher","first-page":"1223","DOI":"10.1016\/j.jocn.2008.11.012","article-title":"Association of the MELAS m.3243A>G mutation with myositis and the superiority of urine over muscle, blood and hair for mutation detection","volume":"16","author":"Marotta","year":"2009","journal-title":"J. Clin. Neurosci."},{"key":"B20","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1038\/ng819","article-title":"Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation","volume":"30","author":"McFarland","year":"2002","journal-title":"Nat. Genet."},{"key":"B21","doi-asserted-by":"publisher","first-page":"9453","DOI":"10.1093\/nar\/gkac720","article-title":"A deafness-associated mitochondrial DNA mutation caused pleiotropic effects on DNA replication and tRNA metabolism","volume":"50","author":"Meng","year":"2022","journal-title":"Nucleic Acids Res."},{"key":"B22","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1002\/ana.410160409","article-title":"Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes: a distinctive clinical syndrome","volume":"16","author":"Pavlakis","year":"1984","journal-title":"Ann. Neurol."},{"key":"B23","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1016\/j.ajhg.2007.10.007","article-title":"Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood","volume":"82","author":"Rajasimha","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"B25","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1002\/ajmg.a.30220","article-title":"Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis","author":"Shanske","year":"2004","journal-title":"Am. J. Med. Genet. a"},{"key":"B26","doi-asserted-by":"publisher","first-page":"372","DOI":"10.1002\/ajmg.a.20449","article-title":"Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation","author":"Tarnopolsky","year":"2004","journal-title":"Am. J. Med. Genet. a"},{"key":"B27","doi-asserted-by":"publisher","first-page":"1556","DOI":"10.1056\/NEJMoa2001265","article-title":"Purifying selection against pathogenic mitochondrial DNA in human T cells","volume":"383","author":"Walker","year":"2020","journal-title":"New Engl. J. Med."},{"key":"B28","doi-asserted-by":"publisher","first-page":"4698","DOI":"10.1093\/hmg\/ddv201","article-title":"Mitochondrial respiratory dysfunction caused by a heteroplasmic mitochondrial DNA mutation blocks cellular reprogramming","volume":"24","author":"Yokota","year":"2015","journal-title":"Hum. Mol. Genet."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2024.1367716\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,19]],"date-time":"2024-07-19T10:26:42Z","timestamp":1721384802000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2024.1367716\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,31]]},"references-count":26,"alternative-id":["10.3389\/fgene.2024.1367716"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2024.1367716","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,31]]},"article-number":"1367716"}}