{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T04:50:37Z","timestamp":1777092637540,"version":"3.51.4"},"reference-count":25,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,7,7]],"date-time":"2020-07-07T00:00:00Z","timestamp":1594080000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>The aim of this study was to evaluate if urinary sediment cells offered a robust alternative to muscle biopsy for the diagnosis of single mtDNA deletions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Eleven adult patients with progressive external ophthalmoplegia and a known single mtDNA deletion were investigated. Urinary sediment cells were used to isolate DNA, which was then subjected to long\u2010range polymerase chain reaction. Where available, the patient`s muscle DNA was studied in parallel. Breakpoint and thus deletion size were identified using both Sanger sequencing and next generation sequencing. The level of heteroplasmy was determined using quantitative polymerase chain reaction.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified the deletion in urine in 9 of 11 cases giving a sensitivity of 80%. Breakpoints and deletion size were readily detectable in DNA extracted from urine. Mean heteroplasmy level in urine was 38% \u00b1 26 (range 8 \u2010 84%), and 57% \u00b1 28 (range 12 \u2013 94%) in muscle. While the heteroplasmy level in urinary sediment cells differed from that in muscle, we did find a statistically significant correlation between these two levels (<jats:italic>R<\/jats:italic>\u00a0=\u00a00.714, <jats:italic>P<\/jats:italic>\u00a0=\u00a00.031(Pearson correlation)).<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Our findings suggest that urine can be used to screen patients suspected clinically of having a single mtDNA deletion. Based on our data, the use of urine could considerably reduce the need for muscle biopsy in this patient group.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51119","type":"journal-article","created":{"date-parts":[[2020,7,7]],"date-time":"2020-07-07T17:01:03Z","timestamp":1594141263000},"page":"1318-1326","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Using urine to diagnose large\u2010scale mtDNA deletions in adult patients"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4910-0953","authenticated-orcid":false,"given":"Kristin N.","family":"Varhaug","sequence":"first","affiliation":[{"name":"Department of Neurology Haukeland University Hospital Bergen Norway"},{"name":"Department of Clinical Medicine (K1) University of Bergen Bergen Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gonzalo S.","family":"Nido","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine (K1) University of Bergen Bergen Norway"},{"name":"Neuro\u2010SysMed Department of Neurology Haukeland University Hospital Bergen Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0533-7422","authenticated-orcid":false,"given":"Irenaeus","family":"de Coo","sequence":"additional","affiliation":[{"name":"Department of Neurology Medical Spectrum Twente Enschede The Netherlands"},{"name":"Department of Genetics and Cell Biology University of Maastricht Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0156-1614","authenticated-orcid":false,"given":"Pirjo","family":"Isohanni","sequence":"additional","affiliation":[{"name":"Research Programs Unit, Stem Cells and Metabolism Faculty of Medicine University of Helsinki Helsinki Finland"},{"name":"Children\u00b4s Hospital 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