Mitochondrial DNA involvement in frontotemporal lobar degeneration : analysis of sequence variants in MTND genes

Detalhes bibliográficos
Autor(a) principal: Fernandes, Ana Sofia Cleto
Data de Publicação: 2012
Tipo de documento: Dissertação
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10316/79828
Resumo: Trabalho final do 6º ano, apresentado á Faculdade de Medicina da Universidade de Coimbra
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spelling Mitochondrial DNA involvement in frontotemporal lobar degeneration : analysis of sequence variants in MTND genesDNA mitocondrialDoenças neurodegenerativasTrabalho final do 6º ano, apresentado á Faculdade de Medicina da Universidade de CoimbraMitochondria dysfunction and oxidative damage have been suggested to have an important role in ageing-related neurodegenerative diseases. One of the possible mechanisms is related to mitochondrial DNA (mtDNA) alterations that may impair mitochondrial respiratory chain function. Contrary to other neurological disorders, frontotemporal lobar degeneration (FTLD) pathophysiology is still poorly understood, and the etiology of most cases remains unknown. Recently, two mtDNA alterations were reported in a patient with FTLD and another study proposed an association between FTLD and a specific mtDNA haplogroup. To determine if mtDNA is involved in FTLD, we sequenced 4 mtDNA genes encoding subunits of NADH dehydrogenase from 17 patients. The alterations detected were submitted to in silico analysis for evaluating possible pathogenicity. In 82% patients we found 29 different alterations, including polymorphisms (62.1%), mutations already associated to other diseases (27.1%) and unpublished variants (13.8%). Many of the alterations detected (69%) were not associated to a change in the amino acid translated and so are not expected to cause mitochondrial dysfunction. The non-synonymous variants are predicted to be benign, according to the in silico analysis. However, even if these alterations are not primarily pathogenic, an interaction with other mutations may occur, leading to the disease, worsening its expression or influencing age of onset. Our study is still preliminary, but the high number of mtDNA alterations identified suggests a possible role of this genome in FTLD. However, it is not yet possible to determine whether these variants are part of the etiology or an epiphenomenon2012info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesishttp://hdl.handle.net/10316/79828http://hdl.handle.net/10316/79828engFernandes, Ana Sofia Cletoinfo: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:RCAAP2022-01-20T17:48:45Zoai:estudogeral.uc.pt:10316/79828Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T21:02:24.760506Repositório 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 involvement in frontotemporal lobar degeneration : analysis of sequence variants in MTND genes
title Mitochondrial DNA involvement in frontotemporal lobar degeneration : analysis of sequence variants in MTND genes
spellingShingle Mitochondrial DNA involvement in frontotemporal lobar degeneration : analysis of sequence variants in MTND genes
Fernandes, Ana Sofia Cleto
DNA mitocondrial
Doenças neurodegenerativas
title_short Mitochondrial DNA involvement in frontotemporal lobar degeneration : analysis of sequence variants in MTND genes
title_full Mitochondrial DNA involvement in frontotemporal lobar degeneration : analysis of sequence variants in MTND genes
title_fullStr Mitochondrial DNA involvement in frontotemporal lobar degeneration : analysis of sequence variants in MTND genes
title_full_unstemmed Mitochondrial DNA involvement in frontotemporal lobar degeneration : analysis of sequence variants in MTND genes
title_sort Mitochondrial DNA involvement in frontotemporal lobar degeneration : analysis of sequence variants in MTND genes
author Fernandes, Ana Sofia Cleto
author_facet Fernandes, Ana Sofia Cleto
author_role author
dc.contributor.author.fl_str_mv Fernandes, Ana Sofia Cleto
dc.subject.por.fl_str_mv DNA mitocondrial
Doenças neurodegenerativas
topic DNA mitocondrial
Doenças neurodegenerativas
description Trabalho final do 6º ano, apresentado á Faculdade de Medicina da Universidade de Coimbra
publishDate 2012
dc.date.none.fl_str_mv 2012
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/masterThesis
format masterThesis
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10316/79828
http://hdl.handle.net/10316/79828
url http://hdl.handle.net/10316/79828
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
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
repository.mail.fl_str_mv
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