{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T19:08:52Z","timestamp":1784920132841,"version":"3.55.0"},"reference-count":48,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,6,4]],"date-time":"2025-06-04T00:00:00Z","timestamp":1748995200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100010344","name":"Aage og Johanne Louis-Hansens Fond","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010344","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006197","name":"Fonden til L\u00e6gevidenskabens Fremme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006197","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009908","name":"Grosserer L. F. Foghts Fond","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009908","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008733","name":"H\u00f8rslev-Fonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008733","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008249","name":"Frimodt-Heineke Fonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008249","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007403","name":"Dagmar Marshalls Fond","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007403","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neurogastroenterology Motil"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Gastrointestinal (GI) symptoms are frequently reported from carriers of the pathogenic mitochondrial DNA variant m.3243A&gt;G, causing decreased mitochondrial adenosine triphosphate (ATP) production. ATP deficiency may adversely affect both autonomic neurogenic and myogenic regulation of GI motility, contributing to the symptoms. This study examined if carriers of m.3243A&gt;G exhibit GI dysmotility, characterized as prolonged segmental transit times and decreased motility indices.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Twenty\u2010two Danish carriers of m.3243A&gt;G and 22 healthy, sex\u2010 and age\u2010matched controls with body mass index &lt;\u200926\u2009kg\/m\n                      <jats:sup>2<\/jats:sup>\n                      were included. Symptoms were assessed using the validated questionnaires Gastroparesis Cardinal Symptoms Index (GCSI) and Gastrointestinal Symptom Rating Scale (GSRS). GI segmental transit times and motility indices were measured using the ingestible SmartPill, which records pressure, temperature, and pH throughout the GI tract.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Key Results<\/jats:title>\n                    <jats:p>\n                      Median [interquartile range] GI symptoms were higher in carriers of m.3243A&gt;G assessed with GCSI (1.3 [0.4\u20131.9] vs. 0.2 [0.0\u20130.4],\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001) and GSRS (2.1 [1.4\u20133.3] vs. 1.1 [1.0\u20131.2],\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001). m.3243A&gt;G carriers further exhibited prolonged median [interquartile range] gastric emptying time (221\u2009min [150\u2013348] vs. 165\u2009min [137\u2013199],\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.02), colonic transit time (2283\u2009min [1082\u20135153] vs. 1014\u2009min [840\u20132451],\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.03) and decreased mean [confidence interval] colonic motility index (114.7\u2009mmHg*s\/min [86.2; 143.3] vs. 168.6\u2009mmHg*s\/min [129.9; 207.3],\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.03) compared to controls. However, these measures were not associated with the perceived GI symptoms.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion &amp; Inferences<\/jats:title>\n                    <jats:p>Carriers of m.3243A&gt;G demonstrated gastroenteropathy, evident as prolonged gastric and colonic transit time and decreased colonic motility index. It is plausible that the negative effect of impaired mitochondrial ATP production impacts the regulation of GI motility.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/nmo.70092","type":"journal-article","created":{"date-parts":[[2025,6,5]],"date-time":"2025-06-05T01:48:49Z","timestamp":1749088129000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Prolonged Gastrointestinal Transit Times and Dysmotility in m.\n                    <scp>3243A<\/scp>\n                    &gt;G Mitochondrial Disease"],"prefix":"10.1111","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5776-0321","authenticated-orcid":false,"given":"Simone Rask","family":"Nielsen","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Aalborg University Hospital  Aalborg Denmark"},{"name":"Department of Clinical Medicine Aalborg University  Aalborg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-0213-6528","authenticated-orcid":false,"given":"Malene Pontoppidan","family":"Stoico","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine Aalborg University  Aalborg Denmark"},{"name":"Department of Molecular Diagnostics Aalborg University Hospital  Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3908-6537","authenticated-orcid":false,"given":"Donghua","family":"Liao","sequence":"additional","affiliation":[{"name":"Mech\u2010Sense, Department of Gastroenterology Aalborg University Hospital  Aalborg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7465-964X","authenticated-orcid":false,"given":"Asbj\u00f8rn Mohr","family":"Drewes","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine Aalborg University  Aalborg Denmark"},{"name":"Mech\u2010Sense, Department of Gastroenterology Aalborg University Hospital  Aalborg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9902-8040","authenticated-orcid":false,"given":"Inge S\u00f8kilde","family":"Pedersen","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine Aalborg University  Aalborg Denmark"},{"name":"Department of Molecular Diagnostics Aalborg University Hospital  Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7944-8910","authenticated-orcid":false,"given":"Anja Lisbeth","family":"Frederiksen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aalborg University Hospital  Aalborg Denmark"},{"name":"Department of Clinical Medicine Aalborg University  Aalborg Denmark"},{"name":"Department of Clinical Genetics Odense University Hospital  Odense Denmark"},{"name":"Department of Clinical Research University of Southern Denmark  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3381-1884","authenticated-orcid":false,"given":"Christina","family":"Brock","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine Aalborg University  Aalborg Denmark"},{"name":"Mech\u2010Sense, Department of Gastroenterology Aalborg University Hospital  Aalborg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,6,4]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2016.80"},{"issue":"1","key":"e_1_2_10_3_1","first-page":"30","article-title":"Dysphagia, Malnutrition and Gastrointestinal Problems in Patients With Mitochondrial Disease Caused by the m3243A>G Mutation","volume":"73","author":"Laat P.","year":"2015","journal-title":"Netherlands Journal of Medicine"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106800"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2010.174"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1262-3636(07)70090-3"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.201708262"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2019.00038"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24736"},{"issue":"2","key":"e_1_2_10_10_1","first-page":"63","article-title":"Current Insights on Chronic Intestinal Dysmotility: Pseudo\u2010Obstruction and Enteric Dysmotility","volume":"116","author":"Alcal\u00e1 Gonz\u00e1lez L. 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