Lwin Alicia, Orvisky Eduard, Goker-Alpan Ozlem, LaMarca Mary E, Sidransky Ellen
Section on Molecular Neurogenetics, National Institute of Mental Health and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda MD 20892-4405, USA.
Mol Genet Metab. 2004 Jan;81(1):70-3. doi: 10.1016/j.ymgme.2003.11.004.
Recent studies showing an association between glucocerebrosidase deficiency and parkinsonism in Gaucher disease prompted an examination of the glucocerebrosidase gene sequence (GBA) and enzyme activity in brain samples from 57 subjects carrying the diagnosis of Parkinson disease. Alterations in GBA were identified in 12 samples (21%) and were more frequent among the younger subjects. These included eight with mutations (N370S, L444P, K198T, and R329C) and four with probable polymorphisms (T369M and E326K). Our findings suggest that mutations in glucocerebrosidase may be a risk factor for the development of parkinsonism.
近期研究表明，戈谢病中葡萄糖脑苷脂酶缺乏与帕金森综合征之间存在关联，这促使人们对57例被诊断为帕金森病的受试者的脑样本中的葡萄糖脑苷脂酶基因序列（GBA）和酶活性进行检测。在12个样本（21%）中发现了GBA的改变，且在较年轻的受试者中更为常见。其中包括8例有突变（N370S、L444P、K198T和R329C），4例可能为多态性（T369M和E326K）。我们的研究结果表明，葡萄糖脑苷脂酶突变可能是帕金森综合征发生的一个风险因素。
