RESUMO
Accumulation of cathepsin D immunoreactive lysosomes correlates with tissue pathology in sporadic Creutzfeldt-Jakob disease (CJD) brains. The C-to-T transition within exon 2 of the cathepsin D (CTSD) gene is associated with altered enzymatic activity. Possession of the TT genotype is a risk factor for variant CJD. To verify the association between the CTSD position 224T allele and the risk for and survival in sporadic and genetic CJD, we genotyped 540 sporadic, 101 genetic CJD, and 723 control individuals. Genotype data and duration of illness were compared using multiple logistic regression and Kruskal-Wallis test. Multivariate survival analysis was performed using Cox's regression model. The distribution of CTSD position 224 alleles was approximately the same in all groups. We observed a trend for shorter survival in sporadic CJD patients harboring the T allele at position 224 of the CTSD gene in particular in sporadic CJD patients with the prion protein gene position 129 MM genotype. We conclude that the CTSD position 224 polymorphism alone is not a significant risk or disease-modifying factor in sporadic or genetic CJD.
Assuntos
Catepsina D/genética , Síndrome de Creutzfeldt-Jakob/genética , Predisposição Genética para Doença , Adulto , Idoso , Síndrome de Creutzfeldt-Jakob/mortalidade , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo ÚnicoRESUMO
We assessed the role of the APOE genotype and prion protein polymorphism at codon 129 in predicting the clinical duration of 92 neuropathologically confirmed sporadic Alzheimer's disease patients. Analyses of survival showed that the absence of the APOE epsilon 4 allele in heterozygous codon 129 PRNP carriers is a negative predictor of survival. When this subgroup of patients was stratified by sex, the effect of APOE was observed in women, but not in men.
Assuntos
Doença de Alzheimer/genética , Doença de Alzheimer/mortalidade , Apolipoproteína E4/genética , Príons/genética , Idoso , Idoso de 80 Anos ou mais , Alelos , Feminino , Predisposição Genética para Doença/epidemiologia , Heterozigoto , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Proteínas Priônicas , Fatores de RiscoRESUMO
BACKGROUND: A polymorphism at codon 129 of the prion protein gene (PRNP) is the only well-known genetic risk factor for Creutzfeldt-Jakob disease (CJD). However, there is increasing evidence that other loci outside the PRNP open reading frame might play a role in CJD aetiology as well. METHODS: We studied tau protein gene (MAPT) haplotypic variations in a population of sporadic and variant CJD patients. We tested 6 MAPT haplotype tagging SNPs (htSNPs) in a Dutch population-based sample of sporadic CJD (sCJD) patients and a cognitively normal control group of similar age distribution. We genotyped the same polymorphisms in two other sample groups of sCJD cases from Italy and the UK. In addition, we compared MAPT haplotypes between sCJD and variant CJD (vCJD) patients. RESULTS: Single locus and haplotype analyses did not detect any significant difference between sCJD cases and controls. When we compared MAPT haplotypes between sCJD and variant CJD (vCJD) patients, we found that two of them were represented differently (H1f: 8% in sCJD versus 2% in vCJD; H1j:1% in sCJD versus 7% in vCJD). However, these two haplotypes were rare in both groups of patients, and taking the small sample sizes into account, we cannot exclude that the differences are due to chance. None of the p-values remained statistically significant after applying a multiple testing correction. CONCLUSION: Our study shows no evidence for an association between MAPT gene variations and sCJD, and some weak evidence for an association to vCJD.
Assuntos
Síndrome de Creutzfeldt-Jakob/genética , Predisposição Genética para Doença/genética , Proteínas tau/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Variação Genética , Haplótipos , Humanos , Desequilíbrio de Ligação , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Foram analisadas 53 amostras de massas alimentícias vitaminadas com ovos, para a pesquisa de urucum e cúrcuma, corantes näo permitidos pela legislaçäo brasileira, na presença de beta-caroteno (pró-vitamina A). Em 22 (41,51%) amostras foi detectada a presença de corantes e 22 (41,51%) amostras apresentaram teor de beta-caroteno abaixo de 200 UI/100g, limite mínimo permitido pela legislaçäo. A presença de urucum e/ou cúrcuma foi verificada em 77,2% das amostras com teor de beta-caroteno condenatório, o que mostra um alto índice de fraude nesses produtos.
Assuntos
Alimentos , Corantes de Alimentos , Análise de AlimentosRESUMO
Aflatoxina B1 foi identificada e quantificada por cromatografia em camada delgada em 666 amostras de produtos alimentícios e 308 amostras de rações animais expostas ao consumo no Estado de São Paulo e em várias outras regiões do Brasil. Foi detectada aflatoxina B1 em 3,39% do total das amostras analisadas, com concentração superior a 30 mg/kg(ppb), que é o limite tolerado pela legislação brasileira. Os resultados foram expressos em tabelas (AU).
