戈谢病患者与正常受试者β-葡萄糖苷酶的生化研究
Biochemical study on beta-glucosidase in individuals with Gaucher's disease and normal subjects.
作者信息
Michelin Kristiane, Wajner Alessandro, Goulart Laureci da S, Fachel Angela A, Pereira Maria Luiza S, de Mello Alexandre S, Souza Fernanda T S, Pires Ricardo F, Giugliani Roberto, Coelho Janice C
机构信息
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, RS, 90035-003, Brazil.
出版信息
Clin Chim Acta. 2004 May;343(1-2):145-53. doi: 10.1016/j.cccn.2004.01.010.
BACKGROUND
Gaucher's disease (GD) is a disorder caused by the deficiency of lysosomal beta-glucosidase, an enzyme that participates in the degradation of glycosphingolipids. Deficiency of this enzyme results in the accumulation of glucocerebrosides in macrophage lysosomes. No studies comparing the biochemical and kinetic behavior of this enzyme in leukocytes and fibroblasts from normal individuals and patients with Gaucher's disease are available.
METHODS
We compared the activities of beta-glu and chitotriosidase between normal subjects and Gaucher disease patients, and characterized the behavior of beta-glu in terms of pH optimum, heat stability, Km and Vmax.
RESULTS
The results showed a different behavior of the enzyme in the groups analyzed.
CONCLUSIONS
This finding might be useful in cases in which the measurement of enzyme activity alone is not reliable for the establishment of the diagnosis of Gaucher's disease.
背景
戈谢病（GD）是一种由溶酶体β-葡萄糖苷酶缺乏引起的疾病，该酶参与糖鞘脂的降解。这种酶的缺乏导致葡萄糖脑苷脂在巨噬细胞溶酶体中积累。目前尚无关于正常人和戈谢病患者白细胞和成纤维细胞中该酶生化和动力学行为比较的研究。
方法
我们比较了正常受试者和戈谢病患者之间β-葡萄糖苷酶和壳三糖苷酶的活性，并从最适pH值、热稳定性、Km和Vmax方面对β-葡萄糖苷酶的行为进行了表征。
结果
结果显示所分析的组中该酶的行为有所不同。
结论
这一发现可能有助于在仅通过酶活性测量来确诊戈谢病不可靠的情况下提供帮助。
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