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CHCHD10 mutations have been associated with deletions of mitochondrial DNA (mtDNA deletions), raising the possibility that these explain the clinical variability. Here, we sequenced mtDNA obtained from hearts, skeletal muscle, livers and spinal cords of WT and Chchd10 G58R or S59L knockin mice to characterise the mtDNA deletion signatures of the two mutant lines. We found that the deletion levels were higher in G58R and S59L mice than in WT mice in some tissues depending on the Chchd10 genotype, and the deletion burden increased with age. Furthermore, we observed that the spinal cord was less prone to the development of mtDNA deletions than the other tissues examined. Finally, in addition to accelerating the rate of naturally occurring deletions, Chchd10 mutations also led to the accumulation of a novel set of deletions characterised by shorter direct repeats flanking the deletion breakpoints. Our results indicate that Chchd10 mutations in mice induce tissue-specific deletions which may also contribute to the clinical phenotype associated with these mutations in humans.<\/jats:p>","DOI":"10.1093\/hmg\/ddad161","type":"journal-article","created":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T16:57:27Z","timestamp":1696957047000},"page":"91-101","source":"Crossref","is-referenced-by-count":7,"title":["<i>CHCHD10<\/i> mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature"],"prefix":"10.1093","volume":"33","author":[{"given":"Mario K","family":"Shammas","sequence":"first","affiliation":[{"name":"University of Cambridge Department of Clinical Neurosciences, School of Clinical Medicine, , Cambridge Biomedical Campus, Cambridge CB2 0QQ , United Kingdom"},{"name":"University of Cambridge Medical Research Council Mitochondrial Biology Unit, , Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0XY , United Kingdom"},{"name":"National Institute of Neurological Disorders and Stroke, National Institutes of Health Inherited Movement Disorders Unit, Neurogenetics Branch, , 35 Convent Drive, Bethesda, MD 20892 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Nie","sequence":"additional","affiliation":[{"name":"University of Cambridge Department of Clinical Neurosciences, School of Clinical Medicine, , Cambridge Biomedical Campus, Cambridge CB2 0QQ , United Kingdom"},{"name":"University of Cambridge Medical Research Council Mitochondrial Biology Unit, , Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0XY , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Gilsrud","sequence":"additional","affiliation":[{"name":"National Institute of Neurological Disorders and Stroke, National Institutes of Health Inherited Movement Disorders Unit, Neurogenetics Branch, , 35 Convent Drive, Bethesda, MD 20892 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoping","family":"Huang","sequence":"additional","affiliation":[{"name":"National Institute of Neurological Disorders and Stroke, National Institutes of Health Inherited Movement Disorders Unit, Neurogenetics Branch, , 35 Convent Drive, Bethesda, MD 20892 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derek P","family":"Narendra","sequence":"additional","affiliation":[{"name":"National Institute of Neurological Disorders and Stroke, National Institutes of Health Inherited Movement Disorders Unit, Neurogenetics Branch, , 35 Convent Drive, Bethesda, MD 20892 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick F","family":"Chinnery","sequence":"additional","affiliation":[{"name":"University of Cambridge Department of Clinical Neurosciences, School of Clinical Medicine, , Cambridge Biomedical Campus, Cambridge CB2 0QQ , United Kingdom"},{"name":"University of Cambridge Medical Research Council Mitochondrial Biology Unit, , Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0XY , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,10,10]]},"reference":[{"key":"2023121917045824200_ref1","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1038\/191144a0","article-title":"Coupling of phosphorylation to electron and hydrogen transfer by a chemi-osmotic type of mechanism","volume":"191","author":"Mitchell","year":"1961","journal-title":"Nature"},{"key":"2023121917045824200_ref2","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1083\/jcb.19.3.593","article-title":"Intramitochondrial fibers with DNA characteristics","volume":"19","author":"Nass","year":"1963","journal-title":"J Cell 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study","volume":"14","author":"Funayama","year":"2015","journal-title":"Lancet Neurol"},{"key":"2023121917045824200_ref30","doi-asserted-by":"crossref","first-page":"e376","DOI":"10.1093\/brain\/awv014","article-title":"A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation","volume":"138","author":"Kurzwelly","year":"2015","journal-title":"Brain"},{"key":"2023121917045824200_ref31","doi-asserted-by":"crossref","first-page":"e309","DOI":"10.1093\/brain\/awu227","article-title":"Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease","volume":"137","author":"M\u00fcller","year":"2014","journal-title":"Brain"},{"key":"2023121917045824200_ref32","doi-asserted-by":"crossref","first-page":"e311","DOI":"10.1093\/brain\/awu265","article-title":"Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral 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