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Mol Genet Metab. 2011 Sep-Oct;104(1-2):185-8. doi: 10.1016/j.ymgme.2011.06.008. Epub 2011 Jun 17.

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

Author information

  • 1Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD, USA.

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.

Published by Elsevier Inc.

PMID:
21742527
[PubMed - indexed for MEDLINE]
PMCID:
PMC3352315
Free PMC Article

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