Browsing by Author "Oliveira, M"
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- Frontotemporal dementia and mitochondrial DNA transitionsPublication . Grazina, M; Silva, F; Santana, I; Santiago, B; Mendes, C; Simões, M; Oliveira, M; Cunha, L; Oliveira, CRFrontotemporal 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.
- Mitochondrial DNA Variants in a Portuguese Population of Patients with Alzheimer’s DiseasePublication . Grazina, M; Silva, F; Santana, I; Pratas, J; Santiago, B; Oliveira, M; Carreira, I; Cunha, L; Oliveira, CRAlzheimer'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.
- Multicentric Genome-Wide Association Study for Primary Spontaneous PneumothoraxPublication . Sousa, I; Abrantes, P; Francisco, V; Teixeira, G; Monteiro, M; Neves, J; Norte, A; Robalo-Cordeiro, C; Moura E Sá, J; Reis, E; Santos, P; Oliveira, M; Sousa, S; Fradinho, M; Malheiro, F; Negrão, L; Feijó, S; Oliveira, SADespite elevated incidence and recurrence rates for Primary Spontaneous Pneumothorax (PSP), little is known about its etiology, and the genetics of idiopathic PSP remains unexplored. To identify genetic variants contributing to sporadic PSP risk, we conducted the first PSP genome-wide association study. Two replicate pools of 92 Portuguese PSP cases and of 129 age- and sex-matched controls were allelotyped in triplicate on the Affymetrix Human SNP Array 6.0 arrays. Markers passing quality control were ranked by relative allele score difference between cases and controls (|RASdiff|), by a novel cluster method and by a combined Z-test. 101 single nucleotide polymorphisms (SNPs) were selected using these three approaches for technical validation by individual genotyping in the discovery dataset. 87 out of 94 successfully tested SNPs were nominally associated in the discovery dataset. Replication of the 87 technically validated SNPs was then carried out in an independent replication dataset of 100 Portuguese cases and 425 controls. The intergenic rs4733649 SNP in chromosome 8 (between LINC00824 and LINC00977) was associated with PSP in the discovery (P = 4.07E-03, ORC[95% CI] = 1.88[1.22-2.89]), replication (P = 1.50E-02, ORC[95% CI] = 1.50[1.08-2.09]) and combined datasets (P = 8.61E-05, ORC[95% CI] = 1.65[1.29-2.13]). This study identified for the first time one genetic risk factor for sporadic PSP, but future studies are warranted to further confirm this finding in other populations and uncover its functional role in PSP pathogenesis.
- Parkinson’s Disease and Mitochondrial DNA NADH Dehydrogenase Subunit 1 Nucleotides 3337–3340: Study in a Population from the Central Region of Portugal (Coimbra)Publication . Grazina, M; Silva, F; Januário, C; Oliveira, M; Cunha, L; Oliveira, CR
- Using the Juvenile Arthritis Disease Activity Score based on erythrocyte sedimentation rate or C-reactive protein level: results from the Portuguese registerPublication . Mourão, AF; Santos, MJ; Melo-Gomes, J; Martins, FM; Costa, JA; Ramos, F; Brito, I; Duarte, C; Figueira, R; Figueiredo, G; Furtado, C; Lopes, A; Oliveira, M; Rodrigues, A; Salgado, M; Sousa, M; Branco, J; Fonseca, JE; Canhão, HOur aims were to evaluate the correlation between Juvenile Arthritis Disease Activity Score 27-joint reduced count (JADAS27) with erythrocyte sedimentation rate (ESR) and JADAS27 with C-reactive protein (CRP) scores and to test the agreement of both scores on classifying each disease activity state. We also aimed at verifying the correlation of the 2 scores across juvenile idiopathic arthritis (JIA) categories and to check the correlation between JADAS27-ESR and clinical JADAS27 (JADAS27 without ESR).