Mitochondrial DNA Variants in a Portuguese Population of Patients with Alzheimer’s Disease

Detalhes bibliográficos
Autor(a) principal: Grazina, M
Data de Publicação: 2005
Outros Autores: Silva, F, Santana, I, Pratas, J, Santiago, B, Oliveira, M, Carreira, I, Cunha, L, Oliveira, CR
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.4/1562
Resumo: Alzheimer's disease (AD) is the most common neurodegenerative disorder associated with dementia in late adulthood. Mitochondrial respiratory chain impairment has been detected in the brain, muscle, fibroblasts and platelets of AD patients, indicating a possible involvement of mitochondrial DNA (mtDNA) in the etiology of the disease. Several reports have identified mtDNA mutations in AD patients, but there is no consensual opinion regarding the cause of the impairment. We have studied mtDNA NADH dehydrogenase subunit 1 nucleotides 3337-3340, searching for mutations. Our study group included 129 AD patients and 125 healthy age-matched controls. We have found alterations in two AD patients: one had two already known mtDNA modifications (3197 T-C and 3338 T-C) and the other a novel transition (3199 T-C) which, to our knowledge, has not been described before.
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spelling Mitochondrial DNA Variants in a Portuguese Population of Patients with Alzheimer’s DiseaseDNA MitocondrialDoença de AlzheimerMutaçãoPortugalAlzheimer's disease (AD) is the most common neurodegenerative disorder associated with dementia in late adulthood. Mitochondrial respiratory chain impairment has been detected in the brain, muscle, fibroblasts and platelets of AD patients, indicating a possible involvement of mitochondrial DNA (mtDNA) in the etiology of the disease. Several reports have identified mtDNA mutations in AD patients, but there is no consensual opinion regarding the cause of the impairment. We have studied mtDNA NADH dehydrogenase subunit 1 nucleotides 3337-3340, searching for mutations. Our study group included 129 AD patients and 125 healthy age-matched controls. We have found alterations in two AD patients: one had two already known mtDNA modifications (3197 T-C and 3338 T-C) and the other a novel transition (3199 T-C) which, to our knowledge, has not been described before.KargerRIHUCGrazina, MSilva, FSantana, IPratas, JSantiago, BOliveira, MCarreira, ICunha, LOliveira, CR2013-06-18T14:04:51Z20052005-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.4/1562engEur Neurol. 2005;53(3):121-4.info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-11T14:22:49Zoai:rihuc.huc.min-saude.pt:10400.4/1562Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:04:03.076592Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Mitochondrial DNA Variants in a Portuguese Population of Patients with Alzheimer’s Disease
title Mitochondrial DNA Variants in a Portuguese Population of Patients with Alzheimer’s Disease
spellingShingle Mitochondrial DNA Variants in a Portuguese Population of Patients with Alzheimer’s Disease
Grazina, M
DNA Mitocondrial
Doença de Alzheimer
Mutação
Portugal
title_short Mitochondrial DNA Variants in a Portuguese Population of Patients with Alzheimer’s Disease
title_full Mitochondrial DNA Variants in a Portuguese Population of Patients with Alzheimer’s Disease
title_fullStr Mitochondrial DNA Variants in a Portuguese Population of Patients with Alzheimer’s Disease
title_full_unstemmed Mitochondrial DNA Variants in a Portuguese Population of Patients with Alzheimer’s Disease
title_sort Mitochondrial DNA Variants in a Portuguese Population of Patients with Alzheimer’s Disease
author Grazina, M
author_facet Grazina, M
Silva, F
Santana, I
Pratas, J
Santiago, B
Oliveira, M
Carreira, I
Cunha, L
Oliveira, CR
author_role author
author2 Silva, F
Santana, I
Pratas, J
Santiago, B
Oliveira, M
Carreira, I
Cunha, L
Oliveira, CR
author2_role author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv RIHUC
dc.contributor.author.fl_str_mv Grazina, M
Silva, F
Santana, I
Pratas, J
Santiago, B
Oliveira, M
Carreira, I
Cunha, L
Oliveira, CR
dc.subject.por.fl_str_mv DNA Mitocondrial
Doença de Alzheimer
Mutação
Portugal
topic DNA Mitocondrial
Doença de Alzheimer
Mutação
Portugal
description Alzheimer's disease (AD) is the most common neurodegenerative disorder associated with dementia in late adulthood. Mitochondrial respiratory chain impairment has been detected in the brain, muscle, fibroblasts and platelets of AD patients, indicating a possible involvement of mitochondrial DNA (mtDNA) in the etiology of the disease. Several reports have identified mtDNA mutations in AD patients, but there is no consensual opinion regarding the cause of the impairment. We have studied mtDNA NADH dehydrogenase subunit 1 nucleotides 3337-3340, searching for mutations. Our study group included 129 AD patients and 125 healthy age-matched controls. We have found alterations in two AD patients: one had two already known mtDNA modifications (3197 T-C and 3338 T-C) and the other a novel transition (3199 T-C) which, to our knowledge, has not been described before.
publishDate 2005
dc.date.none.fl_str_mv 2005
2005-01-01T00:00:00Z
2013-06-18T14:04:51Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.4/1562
url http://hdl.handle.net/10400.4/1562
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Eur Neurol. 2005;53(3):121-4.
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Karger
publisher.none.fl_str_mv Karger
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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