Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD, USA.
Mol Genet Metab. 2011 Sep-Oct;104(1-2):185-8. doi: 10.1016/j.ymgme.2011.06.008. Epub 2011 Jun 17.
Recent studies show an increased frequency of mutations in the glucocerebrosidase gene (GBA1) in patients with α-synucleinopathies including Parkinson disease. Some patients with Gaucher disease (GD) develop parkinsonism with α-synuclein-positive inclusions post mortem. Proteins were extracted from the cerebral cortex of subjects with synucleinopathies with and without GBA1 mutations, controls and patients with GD. Patients with GBA1-associated synucleinopathies showed aggregation of oligomeric forms of α-synuclein in the SDS-soluble fraction, while only monomeric forms of α-synuclein were seen in subjects with GBA1 mutations without parkinsonism. Thus, brains from patients with GBA1-associated parkinsonism show biochemical characteristics typical of Lewy body disorders.
最近的研究表明，在包括帕金森病在内的α-突触核蛋白病患者中，葡萄糖脑苷脂酶基因（GBA1）的突变频率增加。一些戈谢病（GD）患者死后会出现含有α-突触核蛋白的帕金森病。从有和没有 GBA1 突变的突触核蛋白病、对照和 GD 患者的大脑皮层中提取蛋白质。与 GBA1 相关的突触核蛋白病患者的 SDS 可溶部分显示寡聚形式的α-突触核蛋白聚集，而在没有帕金森病的 GBA1 突变患者中仅观察到单体形式的α-突触核蛋白。因此，GBA1 相关帕金森病患者的大脑表现出典型的路易体疾病的生化特征。
