Quitotriosidase em indivíduos sadios e em pacientes com Doença de Gaucher: atividade enzimática, genótipo e associação com estresse oxidativo

• Ano de defesa: 2010
• Autor(a) principal: Rodrigues, Mayra Del Bosco [UNIFESP]
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal de São Paulo (UNIFESP)
• Palavras-chave em Português: Gota de sangue em papel de filtro; Doença de Gaucher; Estresse oxidativo; Quitotriosidase; Gaucher disease; Oxidative stress
• Link de acesso: http://repositorio.unifesp.br/handle/11600/10003

Introduction: Gaucher Disease (GD) is a metabolic hereditary disorder caused by the deficiency of the lysosomal enzyme ß-glicosidase. Laboratory diagnosis is established by the determination of the enzymes ß-glicosidase and chitotriosidase (CT). CT activity is increased in GD patients, but nearly 6% of Caucasian population is CT deficient. The role of CT activity increase in GD is still unknown. Objectives: To determine CT activity and genotype in healthy volunteers and to evaluate oxidative stress parameters in plasma and macrophages of healthy volunteers and GD patients. Methods: We evaluated CT activity and genotype of 122 healthy volunteers. Biological material was obtained from dried blood spots (DBS). Healthy volunteers were divided into groups according to their CT activity value (low, intermediate, high). We also evaluated CT activity of 14 treated GD patients. Some of the volunteers of all the groups (among healthy ones and GD patients) were selected for a new blood sample collection. From this material, we evaluated the redox status in plasma and macrophages cultures. Results: Eleven out of 122 healthy volunteers (9,01%) were confirmed as CT deficient individuals. GD patients presented higher production of reactive oxygen species in comparison to healthy volunteers. No difference was observed in plasma arylesterase activity of paraoxonase 1, but GD patients seem to present lower activities of this antioxidant enzyme. We did not observe differences in homocysteine and cysteine levels among GD patients and controls. Conclusion: CT deficiency frequency in our population presents an intermediate value when we compare to other populations that have already been studied. Oxidative stress seems to be an important phenomenon involved in GD physiopathology.