Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8344251 | Molecular Genetics and Metabolism | 2011 | 4 Pages |
Abstract
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.
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Authors
Jae Hyuk Choi, Barbara Stubblefield, Mark R. Cookson, Ehud Goldin, Arash Velayati, Nahid Tayebi, Ellen Sidransky,