Please use this identifier to cite or link to this item: https://hdl.handle.net/10316/4793
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dc.contributor.authorGrazina, Manuela-
dc.contributor.authorSilva, Filipe-
dc.contributor.authorSantana, Isabel-
dc.contributor.authorSantiago, Beatriz-
dc.contributor.authorMendes, Cândida-
dc.contributor.authorSimões, Marta-
dc.contributor.authorOliveira, Miguel-
dc.contributor.authorCunha, Luís-
dc.contributor.authorOliveira, Catarina-
dc.date.accessioned2008-09-01T14:14:34Z-
dc.date.available2008-09-01T14:14:34Z-
dc.date.issued2004en_US
dc.identifier.citationNeurobiology of Disease. 15:2 (2004) 306-311en_US
dc.identifier.urihttps://hdl.handle.net/10316/4793-
dc.description.abstractFrontotemporal dementia (FTD) is the second most common type of primary degenerative dementia. Some patients present an overlap between Alzheimer's disease (AD) and FTD both in neuropathological and clinical aspects. This may suggest a similar overlap in physiopathology, namely an involvement of mitochondrial DNA (mtDNA) in FTD, as it has been associated to AD. To determine if mtDNA is involved in FTD, we performed a Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) analysis, specific to mtDNA NADH Dehydrogenase subunit 1 (ND1) nucleotides 3337-3340, searching for mutations previously described in Parkinson's and AD patients. We could identify one FTD patient with two mtDNA transitions: one already known (3316 G-to-A) and another unreported (3337 G-to-A). Additionally, mitochondrial respiratory chain complex I activity was reduced in leukocytes of this patient (36% of the control mean activity). To our knowledge, this is the first report of mtDNA variants in FTD patients.en_US
dc.description.urihttp://www.sciencedirect.com/science/article/B6WNK-4BKN103-2/1/606701e14a42b88e76207c37157e431aen_US
dc.format.mimetypeaplication/PDFen
dc.language.isoengeng
dc.rightsopenAccesseng
dc.subjectFrontotemporal dementiaen_US
dc.subjectPoint mutationen_US
dc.subjectMitochondrial respiratory chainen_US
dc.subjectHominoid primatesen_US
dc.subjectAge of onseten_US
dc.subjectAPO E geneen_US
dc.titleFrontotemporal dementia and mitochondrial DNA transitionsen_US
dc.typearticleen_US
dc.identifier.doi10.1016/j.nbd.2003.11.004-
uc.controloAutoridadeSim-
item.openairetypearticle-
item.languageiso639-1en-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.grantfulltextopen-
item.fulltextCom Texto completo-
crisitem.author.researchunitCNC - Center for Neuroscience and Cell Biology-
crisitem.author.researchunitICBR Coimbra Institute for Clinical and Biomedical Research-
crisitem.author.researchunitCNC - Center for Neuroscience and Cell Biology-
crisitem.author.researchunitCES – Centre for Social Studies-
crisitem.author.researchunitCNC - Center for Neuroscience and Cell Biology-
crisitem.author.parentresearchunitFaculty of Medicine-
crisitem.author.parentresearchunitUniversity of Coimbra-
crisitem.author.orcid0000-0002-1173-6481-
crisitem.author.orcid0000-0002-8114-9434-
crisitem.author.orcid0000-0002-4057-0783-
crisitem.author.orcid0000-0001-6942-4328-
Appears in Collections:FMUC Medicina - Artigos em Revistas Internacionais
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