Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations

被引：67

作者：

Choi, Jae Hyuk ^{[1
]}

Stubblefield, Barbara ^{[1
]}

Cookson, Mark R. ^{[2
]}

Goldin, Ehud ^{[1
]}

Velayati, Arash ^{[1
]}

Tayebi, Nahid ^{[1
]}

Sidransky, Ellen ^{[1
]}

机构：

[1] NHGRI, Sect Mol Neurogenet, Med Genet Branch, NIH, Bethesda, MD 20892 USA

[2] NIA, Cell Biol & Gene Express Unit, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2011年 / 104卷 / 1-2期

基金：

美国国家卫生研究院;

关键词：

Gaudier disease; Glucocerebrosidase; alpha-synuclein; Lewy body; Synucleinopathies; Parkinson disease; GAUCHER-DISEASE; GENE; SUSCEPTIBILITY; GBA;

D O I：

10.1016/j.ymgme.2011.06.008

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

Recent studies show an increased frequency of mutations in the glucocerebrosidase gene (GBA1) in patients with alpha-synucleinopathies including Parkinson disease. Some patients with Gaucher disease (GD) develop parkinsonism with et-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 alpha-synuclein in the SOS-soluble fraction, while only monomeric forms of alpha-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. Published by Elsevier Inc.

引用

页码：185 / 188

页数：4

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