Canine MPV17 truncation without clinical manifestations

Show simple item record Hanninen, Reetta L. Ahonen, Saija Marquez, Merce Myohanen, Maarit J. Hytonen, Marjo K. Lohi, Hannes 2015-12-18T07:39:02Z 2015-12-18T07:39:02Z 2015-10-15
dc.identifier.citation Hanninen , R L , Ahonen , S , Marquez , M , Myohanen , M J , Hytonen , M K & Lohi , H 2015 , ' Canine MPV17 truncation without clinical manifestations ' , Biology open , vol. 4 , no. 10 , pp. 1253-1258 .
dc.identifier.other PURE: 57224672
dc.identifier.other PURE UUID: 1af95d74-675c-4b40-9b50-d1e5de06f7fc
dc.identifier.other WOS: 000365077300006
dc.identifier.other Scopus: 84982856715
dc.identifier.other ORCID: /0000-0003-3313-784X/work/51805229
dc.identifier.other ORCID: /0000-0003-1976-5874/work/80222219
dc.description.abstract Mitochondrial DNA depletion syndromes (MDS) are often serious autosomal recessively inherited disorders characterized by tissue-specific mtDNA copy number reduction. Many genes, including MPV17, are associated with the hepatocerebral form of MDS. MPV17 encodes for a mitochondrial inner membrane protein with a poorly characterized function. Several MPV17 mutations have been reported in association with a heterogeneous group of early-onset manifestations, including liver disease and neurological problems. Mpv17-deficient mice present renal and hearing defects. We describe here a MPV17 truncation mutation in dogs. We found a 1-bp insertion in exon 4 of the MPV17 gene, resulting in a frameshift and early truncation of the encoded protein. The mutation halves MPV17 expression in the lymphocytes of the homozygous dogs and the truncated protein is not translated in transfected cells. The insertion mutation is recurrent and exists in many unrelated breeds, although is highly enriched in the Boxer breed. Unexpectedly, despite the truncation of MPV17, we could not find any common phenotypes in the genetically affected dogs. The lack of observable phenotype could be due to a late onset, mild symptoms or potential tissue-specific compensatory mechanisms. This study suggests species-specific differences in the manifestation of the MPV17 defects and establishes a novel large animal model to further study MPV17 function and role in mitochondrial biology. en
dc.format.extent 6
dc.language.iso eng
dc.relation.ispartof Biology open
dc.rights cc_by
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject Dog
dc.subject mtDNA
dc.subject MPV17
dc.subject LIVER-FAILURE
dc.subject GENE MPV17
dc.subject MUTATION
dc.subject ENCODES
dc.subject PROTEIN
dc.subject DEFICIENCY
dc.subject METABOLISM
dc.subject 3111 Biomedicine
dc.subject 3112 Neurosciences
dc.title Canine MPV17 truncation without clinical manifestations en
dc.type Article
dc.contributor.organization Departments of Faculty of Veterinary Medicine
dc.contributor.organization Research Programs Unit
dc.contributor.organization Research Programme for Molecular Neurology
dc.contributor.organization Veterinary Biosciences
dc.contributor.organization Hannes Tapani Lohi / Principal Investigator
dc.description.reviewstatus Peer reviewed
dc.relation.issn 2046-6390
dc.rights.accesslevel openAccess
dc.type.version publishedVersion

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