MT-CYB sequencing analysis in frontotemporal lobar degeneration

Detalhes bibliográficos
Autor(a) principal: Gonçalves, Mónica Silveira
Data de Publicação: 2014
Tipo de documento: Dissertação
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10316/31098
Resumo: Trabalho final de mestrado integrado em Medicina (Genética), apresentado á Faculdade de Medicina da Universidade de Coimbra
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spelling MT-CYB sequencing analysis in frontotemporal lobar degenerationdegeneração frontotemporal lobarDNA mitocondrialvariações na sequênciao gene MT- CYBTrabalho final de mestrado integrado em Medicina (Genética), apresentado á Faculdade de Medicina da Universidade de CoimbraFrontotemporal lobar degeneration (FTLD) is the second most common cause for dementia before 65 years of age. FTLD comprises variants with a very diverging spectrum, regarding the clinical presentation, genetic features, and neuropathology. In the last decades remarkable progresses have been achieved in terms of genetic causes and their relation with neuropathology. Given the complexity of this disease, several aetiologies have been proposed. One of the theories includes variations in mitochondrial DNA (mtDNA) that affect the energy production in mitochondrial respiratory chain and consequently affect the tissue with higher energy demands, the central nervous system. The aim of our study is to identify variations of MT-CYB gene in 70 DNA samples of patients with probable diagnosis of FTLD. Total DNA of the samples was extracted from peripheral blood and MT-CYB gene was analysed and the sequence variations found were submitted to an in silico analysis. A total of 37 different sequence variations were identified in 44 patients (63%): 22 are synonymous, 2 are novel variations (m.15073C>T; m.15127C>T) that have not been reported to date in MITOMAP database and 15 are non-synonymous. The results of the in silico analysis suggested that 3 variations may be pathogenic: m.14927A>C affects protein function according to SIFT and the amino acid is conserved in all mammals; m.15164T>C is predicted to be deleterious by Provean, it is an alteration in a critical position and is totally conserved in all species studied, and m.15465T>C affects protein function according to Poly-Phen and SIFT and is highly conserved in mammals. Further investigation is important to clarify a possible relationship between mtDNA variations and pathophysiology of FTLD. However, our study represents a significant improvement in the complex field of dementia such like FTLD2014info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesishttp://hdl.handle.net/10316/31098http://hdl.handle.net/10316/31098TID:201631555engGonçalves, Mónica Silveirainfo: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:RCAAP2022-05-25T09:31:24Zoai:estudogeral.uc.pt:10316/31098Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:44:52.662296Repositório 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 MT-CYB sequencing analysis in frontotemporal lobar degeneration
title MT-CYB sequencing analysis in frontotemporal lobar degeneration
spellingShingle MT-CYB sequencing analysis in frontotemporal lobar degeneration
Gonçalves, Mónica Silveira
degeneração frontotemporal lobar
DNA mitocondrial
variações na sequência
o gene MT- CYB
title_short MT-CYB sequencing analysis in frontotemporal lobar degeneration
title_full MT-CYB sequencing analysis in frontotemporal lobar degeneration
title_fullStr MT-CYB sequencing analysis in frontotemporal lobar degeneration
title_full_unstemmed MT-CYB sequencing analysis in frontotemporal lobar degeneration
title_sort MT-CYB sequencing analysis in frontotemporal lobar degeneration
author Gonçalves, Mónica Silveira
author_facet Gonçalves, Mónica Silveira
author_role author
dc.contributor.author.fl_str_mv Gonçalves, Mónica Silveira
dc.subject.por.fl_str_mv degeneração frontotemporal lobar
DNA mitocondrial
variações na sequência
o gene MT- CYB
topic degeneração frontotemporal lobar
DNA mitocondrial
variações na sequência
o gene MT- CYB
description Trabalho final de mestrado integrado em Medicina (Genética), apresentado á Faculdade de Medicina da Universidade de Coimbra
publishDate 2014
dc.date.none.fl_str_mv 2014
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/10316/31098
http://hdl.handle.net/10316/31098
TID:201631555
url http://hdl.handle.net/10316/31098
identifier_str_mv TID:201631555
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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