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Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic...
Kazachkova, Nadiya; Raposo, Mafalda; Montiel, Rafael; Cymbron, Teresa; Bettencourt, Conceição; Fernandes, Anabela Silva; Silva, Sara Carina Duarte daBACKGROUND: Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar ataxia caused by a CAG tract expansions in the ATXN3 gene. Patterns of mitochondrial damage associated with pathological findings of brain tissues could provide molecular biomarkers of this disorder. OBJECTIVE: The potential of mitochondrial DNA (mtDNA) damage as a biomarker of MJD progression was investigated using a transgeni...
Sequence analysis of 5' regulatory regions of the Machado-Joseph Disease gene (...
Bettencourt, C.; Raposo, Mafalda; Kazachkova, Nadiya; Santos, Cristina; Kay, Teresa; Vasconcelos, João; Maciel, P.; Donis, KarinaMachado–Joseph disease (MJD) is a late-onset autosomal dominant neurodegenerative disorder, which is caused by a coding (CAG)n expansion in the ATXN3 gene (14q32.1). The number of CAG repeats in the expanded alleles accounts only for 50 to 75 % of onset variance, the remaining variation being dependent on other factors. Differential allelic expression of ATXN3 could contribute to the explanation of different ag...
The APOE ε2 allele increases the risk of Earlier Age at onset in Machado-Joseph...
Bettencourt, C.; Raposo, Mafalda; Kazachkova, Nadiya; Cymbron, Teresa; Santos, Cristina; Kay, Teresa; Vasconcelos, João; Maciel, P.; Donis, KarinaBackground. Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder of late onset, caused by a (CAG)n expansion at the ATXN3 gene (14q32.1). Variation in age-at-onset is partially explained by the size of the (CAG)n tract in expanded alleles. The remaining variation should be the product of other factors, namely modifier genes. The genotype at the APOE locus has been described as a poss...
Cross-sectional study of risk factors for atherosclerosis in the Azorean popula...
Cymbron, Teresa; Raposo, Mafalda; Kazachkova, Nadia; Bettencourt, Conceição; Silva, Francisca; Santos, Cristina; Dahmani, Yahya; Lourenço, Paula C.Copyright © 2011 Informa UK Ltd. ; Background: Atherosclerosis -a major cause of vascular disease, including ischemic heart disease (IHD), is a pathology that has a two-fold higher mortality rate in the Azorean Islands compared to mainland Portugal. Aim: This cross-sectional study investigated the role of genetic variation in the prevalence of atherosclerosis in this population. Subjects and methods: A total o...
Plasma aminothiol status in the population of the Island of São Jorge (The Azor...
Ferin, Rita; Correia, Cristina; Raposo, Mafalda; Gonçalves, Bruno; Gonçalves, C.; Baptista, José; Pavão, Maria Leonor78th Congress of the European- Atherosclerosis -Society (AES): Abstract MS269. ; Copyright © 2010 Elsevier Ltd. All rights reserved. ; Hcy, Cys, Cys-Gly and GSH are low molecular weight thiols that play important roles in the metabolism and homeostasis of the organism. An altered plasma aminothiols status can cause oxidative stress, thus contributing to atherogenesis. The aim of this study was to evaluate the...
Serum atherogenic lipid markers in subjects from three islands of The Azores Ar...
Ferin, Rita; Correia, Cristina; Raposo, Mafalda; Castro, Ana Rita; Reis, C.; Vieira, T.; Gonçalves, Bruno; Pavão, Maria Leonor78th Congress of the European- Atherosclerosis -Society (AES): Abstract MS237. ; Copyright © 2010 Elsevier Ltd. All rights reserved. ; São Miguel (SM), Graciosa (GR) and São Jorge (SJ) are three islands of the Azores’ Archipelago, where the death rate from coronary artery disease is abouttwice than in mainland Portugal. The aim of this study was to evaluate and compare serum atherogenic lipid markers as refle...
Relationship of the APOE polymorphism and lipid profile: A population-based stu...
Raposo, Mafalda; Dahmani, Yahya; Silva, Francisca; Tavares, M.; Cymbron, Teresa; Santos, Cristina; Bettencourt, Conceição; Ferin, RitaEuropean Human Genetics Conference 2009: Abstract P17.18 em Livro de Resumos. Austria Center Vienna, Vienna, Austria, Saturday, May 23 – Tuesday, May 26, 2009. ; The factors leading to a two-fold mortality rate from coronary artery disease (CAD) in the Azores, as compared to Mainland Portugal, have not been elucidated. Previous studies reported a population tendency for hypercholesterolemia, one of the main fa...
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