RESUMO
Inducible nitric oxide synthase (NOS2A) may be involved in the oxidative stress pathology of Parkinson disease (PD). Two previous studies reported an association of a single nucleotide polymorphism (rs1060826) with PD. A replication study of 340 German patients and 680 controls showed no significant association between 12 genotyped polymorphisms and PD. NOS2A is therefore not a major susceptibility locus in our relatively young sample population.
Assuntos
Óxido Nítrico Sintase Tipo II/genética , Doença de Parkinson/enzimologia , Doença de Parkinson/genética , Alelos , Frequência do Gene/genética , Predisposição Genética para Doença , Humanos , Desequilíbrio de Ligação/genética , Repetições de Microssatélites/genética , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genéticaRESUMO
BACKGROUND: A triplication of the alpha-synuclein gene was found to cause autosomal dominant Lewy body disease in two distinct families. METHOD: We searched for alterations of alpha-synuclein gene dosage and analysed the entire coding region for point mutations in 54 dementia with Lewy body disease (DLB) and in 103 young onset Parkinson's disease (PD) patients from Central Europe. RESULTS: We could not detect any quantitative alterations in the gene dosage of alpha-synuclein. Mutational screening of the entire coding region of alpha-synuclein revealed only one silent mutation V3V (adenine9guanine) in one case. CONCLUSIONS: Thus, this phenomenon appears not to be a major cause in the pathogenesis of sporadic DLB and young onset PD in this European population.
Assuntos
Duplicação Gênica , Doença por Corpos de Lewy/genética , Doença de Parkinson/genética , alfa-Sinucleína/genética , Adulto , Idade de Início , Idoso , Estudos de Coortes , Análise Mutacional de DNA , Europa (Continente) , Feminino , Dosagem de Genes , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Mutação PuntualRESUMO
Two clinical forms: choleriform syndrome and gastro enteritis came be individualised. The geographical origin of these cases (the coastal region Abidjan) as well as some samples issued aquatic milieu enable to point out some modes of human contamination.
