{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T14:58:53Z","timestamp":1791644333693,"version":"4.3.4"},"reference-count":36,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2022,6,6]],"date-time":"2022-06-06T00:00:00Z","timestamp":1654473600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"ANAGRAMS-IP-2018-01-8708"},{"name":"MITOTAUROMICS-IP-11-2013_9070"},{"name":"Croatian Science Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>While mitogenome mutations leading to pathological manifestations are rare, more than 200 such mutations have been described in humans. In contrast, pathogenic mitogenome mutations are rare in domestic animals and have not been described at all in cattle. In the small local Slovenian cattle breed Cika, we identified (next-generation sequencing) two cows with the T10432C mitogenome mutation in the ND4L gene, which corresponds to the human T10663C mutation known to cause Leber\u2019s hereditary optic neuropathy (LHON). Pedigree analysis revealed that the cows in which the mutation was identified belong to two different maternal lineages with 217 individual cows born between 1997 and 2020. The identified mutation and its maternal inheritance were confirmed by Sanger sequencing across multiple generations, whereas no single analysis revealed evidence of heteroplasmy. A closer clinical examination of one cow with the T10432C mutation revealed exophthalmos, whereas histopathological examination revealed retinal ablations, subretinal oedema, and haemorrhage. The results of these analyses confirm the presence of mitochondrial mutation T10432C with homoplasmic maternal inheritance as well as clinical and histopathological signs similar to LHON in humans. Live animals with the mutation could be used as a suitable animal model that can improve our understanding of the pathogenesis of LHON and other mitochondriopathies.<\/jats:p>","DOI":"10.3390\/ijms23116335","type":"journal-article","created":{"date-parts":[[2022,6,6]],"date-time":"2022-06-06T10:08:24Z","timestamp":1654510104000},"page":"6335","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The Consequences of Mitochondrial T10432C Mutation in Cika Cattle: A \u201cPotential\u201d Model for Leber\u2019s Hereditary Optic Neuropathy"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2602-8696","authenticated-orcid":false,"given":"Dinko","family":"Novosel","sequence":"first","affiliation":[{"name":"Department of Pathology, Croatian Veterinary Institute, 10000 Zagreb, Croatia"},{"name":"Department of Animal Science, Faculty of Agriculture, University of Zagreb, 10000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vladimir","family":"Brajkovi\u0107","sequence":"additional","affiliation":[{"name":"Department of Animal Science, Faculty of Agriculture, University of Zagreb, 10000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mojca","family":"Sim\u010di\u010d","sequence":"additional","affiliation":[{"name":"Department of Animal Science, Biotechnical Faculty, University of Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3330-7909","authenticated-orcid":false,"given":"Minja","family":"Zorc","sequence":"additional","affiliation":[{"name":"Department of Animal Science, Biotechnical Faculty, University of Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5469-9273","authenticated-orcid":false,"given":"Tanja","family":"Svara","sequence":"additional","affiliation":[{"name":"Institute of Pathology, Wild Animals, Fish and Bees, Veterinary Faculty, University of Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karmen Branovic","family":"Cakanic","sequence":"additional","affiliation":[{"name":"Department of Pathology, Croatian Veterinary Institute, 10000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreja","family":"Jungi\u0107","sequence":"additional","affiliation":[{"name":"Department of Virology, Croatian Veterinary Institute, 10000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Betka","family":"Logar","sequence":"additional","affiliation":[{"name":"Agricultural Institute of Slovenia, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vlatka","family":"Cubric-Curik","sequence":"additional","affiliation":[{"name":"Department of Animal Science, Faculty of Agriculture, University of Zagreb, 10000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7418-0054","authenticated-orcid":false,"given":"Peter","family":"Dovc","sequence":"additional","affiliation":[{"name":"Department of Animal Science, Biotechnical Faculty, University of Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7090-1654","authenticated-orcid":false,"given":"Ino","family":"Curik","sequence":"additional","affiliation":[{"name":"Department of Animal Science, Faculty of Agriculture, University of Zagreb, 10000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.1126\/science.283.5407.1482","article-title":"Mitochondrial diseases in man and mouse","volume":"283","author":"Wallace","year":"1999","journal-title":"Science"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1080\/07853890510007368","article-title":"Mitochondrial DNA and disease","volume":"37","author":"Dimauro","year":"2005","journal-title":"Ann. 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