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ABSTRACT: Different studies have attempted to find polymorphisms involved in the serotonergic pathway that could be involved in mood
disorders and late-onset Alzheimer’s disease (LOAD) symptoms. Here, we compared the frequency of two polymorphisms: monoamine
oxidase A (MAOA) and serotonin transporter in LOAD patients versus controls. No evidence of association was observed when
these polymorphisms were compared separately; however, the combination of the MAOA allele 1 + the short allele of 5-HTTLPR + ApoE-ɛ4 was significantly more frequent in patients than in controls. It reinforces the
hypothesis that different genes acting together might play a role in AD susceptibility. Based on these data, we suggest replicating
these studies in larger samples of LOAD patients belonging to different ethnic groups.
Journal of Molecular Neuroscience 04/2012; 27(2):213-217. · 2.50 Impact Factor
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Tania Marcourakis, Valéria S Bahia,
Elisa M Kawamoto,
Carolina D Munhoz,
Renata Gorjão,
Rinaldo Artes,
Fernando Kok,
Paulo Caramelli,
Ricardo Nitrini,
Rui Curi,
Cristoforo Scavone
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ABSTRACT: The presence of the epsilon4 allele of apolipoprotein E (APOE) is considered a risk factor for sporadic Alzheimer's disease (AD). Our recent data demonstrated that the systemic modulation of oxidative stress in platelets and erythrocytes is disrupted in aging and AD. In this study, the relationship between APOE genotype and oxidative stress markers, both in AD patients and controls, was evaluated. The AD group showed an increase in the content of thiobarbituric acid-reactive substances (TBARS) and in the activities of nitric oxide synthase (NOS) and Na, K-ATPase, when compared to controls. Both groups had a similar cGMP content and superoxide dismutase activity. APOE epsilon4 allele carriers showed higher NOS activity than non-carriers. These results suggest a possible influence of APOE genotype on nitric oxide (NO) production that might enhance the effects of age-related specific factor(s) associated with neurodegenerative disorders.
Cell Biochemistry and Function 10/2008; 26(8):852-8. · 1.77 Impact Factor
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Ricardo Nitrini,
Paulo Caramelli,
Emílio Herrera,
Isac de Castro, Valéria S Bahia,
Renato Anghinah,
Leonardo F Caixeta,
Márcia Radanovic,
Helenice Charchat-Fichman,
Cláudia S Porto,
Maria Teresa Carthery,
Ana Paula J Hartmann,
Nancy Huang,
Jerusa Smid,
Edison P Lima,
Daniel Yasumasa Takahashi,
Leonel Tadao Takada
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ABSTRACT: The influence of dementia on mortality has not yet been reported for a Latin American country.
To evaluate the influence of dementia on mortality of a community-dwelling elderly population in Brazil, and to verify the extent to which the diagnosis of dementia is reported on death certificates.
A cohort of 1,656 individuals, aged 65 and over, was screened for dementia at their domiciles, in 1997. The same population was re-evaluated in 2000, and information on deaths was obtained from relatives and from the municipal obituary service. Kaplan-Meier curves were used for the survival analysis, and the mortality risk ratio (MMR) was calculated using Cox proportional hazards models.
We obtained data from 1,393 subjects, corresponding to 84.1% of the target population. The number of deaths was 58 (51.3%) among the patients with dementia and 163 (12.7%) among those without dementia in 1997 (p <0.0001). Dementia and Alzheimer's disease (AD) decreased survival, with hazards ratios of 5.16 [95% Confidence Interval (CI): 3.74-7.12] for dementia and 4.76 (95% CI: 3.16-7.18) for AD. The Cox proportional hazards model identified dementia (MMR=3.92, 95% CI: 2.80-5.48) as the most significant predictor of death, followed by age, history of stroke, complaints of visual impairment and heart failure and by severe arterial hypertension in the baseline evaluation. Dementia and/or AD were mentioned in only 12.5% of the death certificates of individuals with dementia.
Dementia causes a significant decrease in survival, and the diagnosis of dementia is rarely reported on death certificates in Brazil.
International Journal of Geriatric Psychiatry 03/2005; 20(3):247-53. · 2.42 Impact Factor
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ABSTRACT: Different studies have attempted to find polymorphisms involved in the serotonergic pathway that could be involved in mood disorders and late-onset Alzheimer's disease (LOAD) symptoms. Here, we compared the frequency of two polymorphisms: monoamine oxidase A (MAOA) and serotonin transporter in LOAD patients versus controls. No evidence of association was observed when these polymorphisms were compared separately; however, the combination of the MAOA allele 1+the short allele of 5-HTTLPR+ApoE-epsilon4 was significantly more frequent in patients than in controls. It reinforces the hypothesis that different genes acting together might play a role in AD susceptibility. Based on these data, we suggest replicating these studies in larger samples of LOAD patients belonging to different ethnic groups.
Journal of Molecular Neuroscience 02/2005; 27(2):213-7. · 2.50 Impact Factor
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ABSTRACT: After the identification of the apolipoprotein E gene isoform (APOE-epsilon4) as a risk factor for late-onset Alzheimer's disease (LOAD), the search for other polymorphisms associated with AD has been undertaken by many groups of investigators around the world. These studies have shown controversial results in many populations. More recently, a single nucleotide polymorphism in the promoter region of the brain-derived neurotrophin factor (BDNF) was found to be a risk factor for AD in two independent population studies. Here we report the analysis of this polymorphism in a group of 188 LOAD Brazilian patients compared to matched normal controls. A strong association between the APOE-epsilon4 polymorphism and LOAD was observed, but there was no significant association between this BNDF polymorphism and affected patients. The possibility that other polymorphisms or mutations in this gene play a role in the development of AD cannot be ruled out. However, the results of the present study suggest that in opposition to the two reported studies, this polymorphism does not seem to be implicated in LOAD Brazilian patients. It also shows the importance of replication studies in different populations, as susceptibility loci might differ in different ethnic groups; this will have important implications in future treatments with pharmacological agents.
Journal of Molecular Neuroscience 02/2004; 22(3):257-60. · 2.50 Impact Factor
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ABSTRACT: To verify the diagnostic accuracy of the Brazilian version of the Mattis Dementia Rating Scale (DRS) in the diagnosis of patients with mild dementia in Alzheimer's disease (AD); to verify the interference of the variables age and schooling on the performance of the DRS.
The DRS was administered to 41 patients with mild AD and to 60 controls. In order to analyze the effects of age and schooling on the performance of the tests, patients and controls were separated into three age groups and three levels of schooling.
The cutoff score of 122 showed a sensitivity of 91.7 % and specificity of 87.8 %. Age and schooling interfered in the DRS total score and in the scores of its subscales.
The DRS showed good diagnostic accuracy in the discrimination of patients with mild AD from the control individuals. In the sample examined, the effects of schooling were more marked than age.
Arquivos de Neuro-Psiquiatria 07/2003; 61(2B):339-45. · 0.72 Impact Factor
