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Gitelman syndrome is caused by biallelic pathogenic variants in\n                      <jats:italic toggle=\"yes\">SLC12A3,<\/jats:italic>\n                      encoding the Na\n                      <jats:sup>+<\/jats:sup>\n                      -Cl\n                      <jats:sup>\u2212<\/jats:sup>\n                      cotransporter (NCC) expressed in the distal convoluted tubule. Pathogenic variants of\n                      <jats:italic toggle=\"yes\">CLCNKB<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">HNF1B<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">FXYD2<\/jats:italic>\n                      , or\n                      <jats:italic toggle=\"yes\">KCNJ10<\/jats:italic>\n                      may result in the same renal phenotype of Gitelman syndrome, as they can lead to reduced NCC activity. For approximately 10 percent of patients with a Gitelman syndrome phenotype, the genotype is unknown.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We identified mitochondrial DNA (mtDNA) variants in three families with Gitelman-like electrolyte abnormalities, then investigated 156 families for variants in\n                      <jats:italic toggle=\"yes\">MT-TI<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">MT-TF<\/jats:italic>\n                      , which encode the transfer RNAs for phenylalanine and isoleucine. Mitochondrial respiratory chain function was assessed in patient fibroblasts. Mitochondrial dysfunction was induced in NCC-expressing HEK293 cells to assess the effect on thiazide-sensitive\n                      <jats:sup>22<\/jats:sup>\n                      Na\n                      <jats:sup>+<\/jats:sup>\n                      transport.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Genetic investigations revealed four mtDNA variants in 13 families: m.591C&gt;T (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =7), m.616T&gt;C (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =1), m.643A&gt;G (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =1) (all in\n                      <jats:italic toggle=\"yes\">MT-TF<\/jats:italic>\n                      ), and m.4291T&gt;C (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =4, in\n                      <jats:italic toggle=\"yes\">MT-TI<\/jats:italic>\n                      ). Variants were near homoplasmic in affected individuals. All variants were classified as pathogenic, except for m.643A&gt;G, which was classified as a variant of uncertain significance. Importantly, affected members of six families with an\n                      <jats:italic toggle=\"yes\">MT-TF<\/jats:italic>\n                      variant additionally suffered from progressive chronic kidney disease. Dysfunction of oxidative phosphorylation complex IV and reduced maximal mitochondrial respiratory capacity were found in patient fibroblasts.\n                      <jats:italic toggle=\"yes\">In vitro<\/jats:italic>\n                      pharmacological inhibition of complex IV, mimicking the effect of the mtDNA variants, inhibited NCC phosphorylation and NCC-mediated sodium uptake.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Pathogenic mtDNA variants in\n                      <jats:italic toggle=\"yes\">MT-TF<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">MT-TI<\/jats:italic>\n                      can cause a Gitelman-like syndrome. Genetic investigation of mtDNA should be considered in patients with unexplained Gitelman syndrome-like tubulopathies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1681\/asn.2021050596","type":"journal-article","created":{"date-parts":[[2021,10,4]],"date-time":"2021-10-04T16:57:47Z","timestamp":1633366667000},"page":"305-325","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":65,"title":["Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA"],"prefix":"10.1681","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6398-0646","authenticated-orcid":false,"given":"Daan","family":"Viering","sequence":"first","affiliation":[{"name":"Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7245-6301","authenticated-orcid":false,"given":"Karl P.","family":"Schlingmann","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, University Children\u2019s Hospital, M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marguerite","family":"Hureaux","sequence":"additional","affiliation":[{"name":"Reference Center for Hereditary Kidney and Childhood Diseases (Maladies r\u00e9nales h\u00e9r\u00e9ditaires de l'enfant et de l'adulte [MARHEA]), Paris, France"},{"name":"Department of Genetics, Assistance Publique H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges-Pompidou, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Nijenhuis","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Mallett","sequence":"additional","affiliation":[{"name":"Department of Renal Medicine, Townsville University Hospital, Townsville, Australia"},{"name":"Queensland Conjoint Renal Genetics Service \u2013 Genetic Health Queensland, Royal Brisbane and Women\u2019s Hospital, Brisbane, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1968-1734","authenticated-orcid":false,"given":"Melanie M.Y.","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Renal Medicine, University College London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0335-8177","authenticated-orcid":false,"given":"Andr\u00e9","family":"van Beek","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albertien M.","family":"van Eerde","sequence":"additional","affiliation":[{"name":"Genetics Department, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Marie","family":"Coulibaly","sequence":"additional","affiliation":[{"name":"Service of Nephrology, Yves Le Foll Hospital, Saint Brieuc, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Vallet","sequence":"additional","affiliation":[{"name":"Department of Physiological Functional Investigations, Centre Hospitalier Universitaire de Toulouse, Universit\u00e9 Paul Sabatier, Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Decramer","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology, Internal Medicine and 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Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chirag","family":"Patel","sequence":"additional","affiliation":[{"name":"Queensland Conjoint Renal Genetics Service \u2013 Genetic Health Queensland, Royal Brisbane and Women\u2019s Hospital, Brisbane, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohan","family":"Shenoy","sequence":"additional","affiliation":[{"name":"Department of Paediatric Nephrology, Royal Manchester Children\u2019s Hospital, Manchester, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric J.","family":"Steenbergen","sequence":"additional","affiliation":[{"name":"Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glenn","family":"Anderson","sequence":"additional","affiliation":[{"name":"Department of Pathology, Great Ormond Street Hospital for Children National Health Service (NHS) 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Recherche des Cordeliers, Sorbonne Universit\u00e9, Institut National de la Sant\u00e9 et de Recherche M\u00e9dicale (INSERM), Universit\u00e9 de Paris, Centre National de la Recherche Scientifique (CNRS), Paris, France"},{"name":"Department of Physiology, Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Konrad","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, University Children\u2019s Hospital, M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4169-0680","authenticated-orcid":false,"given":"Rosa","family":"Vargas-Poussou","sequence":"additional","affiliation":[{"name":"Reference Center for Hereditary Kidney and Childhood Diseases (Maladies r\u00e9nales h\u00e9r\u00e9ditaires de l'enfant et de l'adulte [MARHEA]), Paris, France"},{"name":"Department of Genetics, Assistance Publique H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges-Pompidou, Paris, France"},{"name":"Centre de Recherche des Cordeliers, Sorbonne Universit\u00e9, Institut National de la Sant\u00e9 et de Recherche M\u00e9dicale (INSERM), Universit\u00e9 de Paris, Centre National de la Recherche Scientifique (CNRS), Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7454-7795","authenticated-orcid":false,"given":"Nine V.A.M.","family":"Knoers","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5878-941X","authenticated-orcid":false,"given":"Detlef","family":"Bockenhauer","sequence":"additional","affiliation":[{"name":"Department of Renal Medicine, University College London, London, United 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