期刊
MOLECULAR GENETICS AND METABOLISM
卷 104, 期 1-2, 页码 185-188出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2011.06.008
关键词
Gaudier disease; Glucocerebrosidase; alpha-synuclein; Lewy body; Synucleinopathies; Parkinson disease
资金
- National Human Genome Research Institute
- National Institute on Aging
- National Institutes of Health
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.
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