title: Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations.
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.
authors: Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD, USA.
authors: Jae Hyuk
authors: JH
authors: Choi
authors: Barbara
authors: B
authors: Stubblefield
authors: Mark R
authors: MR
authors: Cookson
authors: Ehud
authors: E
authors: Goldin
authors: Arash
authors: A
authors: Velayati
authors: Nahid
authors: N
authors: Tayebi
authors: Ellen
authors: E
authors: Sidransky
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D005260:Female; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020836:Protein Structure, Quaternary; D012995:Solubility; D051844:alpha-Synuclein / Q000737:chemistry* / Q000378:metabolism*
chemical_list: D051844:alpha-Synuclein; D005962:Glucosylceramidase