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Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

2013-05Journal article Restricted access
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dc.contributor.authorNogueira, C.
dc.contributor.authorBarros, J.
dc.contributor.authorSá, M.J.
dc.contributor.authorAzevedo L, L.
dc.contributor.authorTaipa, R.
dc.contributor.authorTorraco, A.
dc.contributor.authorMeschini, M.C.
dc.contributor.authorVerrigni, D.
dc.contributor.authorNesti, C.
dc.contributor.authorRizza, T.
dc.contributor.authorTeixeira, João Paulo
dc.contributor.authorCarrozzo, R.
dc.contributor.authorPires, M.M.
dc.contributor.authorVilarinho, L.
dc.contributor.authorSantorelli, F.M.
dc.date.accessioned2014-04-03T12:11:01Z
dc.date.available2014-04-03T12:11:01Z
dc.date.issued2013-05
dc.description.abstractComplex III of the mitochondrial respiratory chain (CIII) catalyzes transfer of electrons from reduced coenzyme Q to cytochrome c. Low biochemical activity of CIII is not a frequent etiology in disorders of oxidative metabolism and is genetically heterogeneous. Recently, mutations in the human tetratricopeptide 19 gene (TTC19) have been involved in the etiology of CIII deficiency through impaired assembly of the holocomplex. We investigated a consanguineous Portuguese family where four siblings had reduced enzymatic activity of CIII in muscle and harbored a novel homozygous mutation in TTC19. The clinical phenotype in the four sibs was consistent with severe olivo-ponto-cerebellar atrophy, although their age at onset differed slightly. Interestingly, three patients also presented progressive psychosis. The mutation resulted in almost complete absence of TTC19 protein, defective assembly of CIII in muscle, and enhanced production of reactive oxygen species in cultured skin fibroblasts. Our findings add to the array of mutations in TTC19, corroborate the notion of genotype/phenotype variability in mitochondrial encephalomyopathies even within a single family, and indicate that psychiatric manifestations are a further presentation of low CIII.por
dc.identifier.citationNeurogenetics. 2013 May;14(2):153-60. doi: 10.1007/s10048-013-0361-1. Epub 2013 Mar 28por
dc.identifier.issn1364-6745,
dc.identifier.otherdoi: 10.1007/s10048-013-0361-1
dc.identifier.urihttp://hdl.handle.net/10400.18/2220
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherSpringer Verlagpor
dc.relation.publisherversionhttp://link.springer.com/article/10.1007%2Fs10048-013-0361-1por
dc.subjectDoenças Genéticaspor
dc.subjectDoenças Mitocondriaispor
dc.subjectComplex IIIpor
dc.subjectTTC19por
dc.subjectCerebellar Ataxiapor
dc.subjectOlivo–ponto–cerebellar Atrophypor
dc.subjectPsychiatric Manifestationspor
dc.titleNovel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiencypor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage160por
oaire.citation.startPage153por
oaire.citation.titleNeurogeneticspor
oaire.citation.volume14(2)por
rcaap.rightsembargoedAccesspor
rcaap.typearticlepor

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