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L444P Gba1 mutation increases formation and spread of ?-synuclein deposits in mice injected with mouse ?-synuclein pre-formed fibrils.

ABSTRACT: Parkinson disease is the most common neurodegenerative movement disorder, estimated to affect one in twenty-five individuals over the age of 80. Mutations in glucocerebrosidase 1 (GBA1) represent the most common genetic risk factor for Parkinson disease. The link between GBA1 mutations and ?-synuclein accumulation, a hallmark of Parkinson disease, is not fully understood. Following our recent finding that Gba1 mutations lead to increased ?-synuclein accumulation in mice, we have studied the effects of a single injection of mouse ?-synuclein pre-formed fibrils into the striatum of Gba1 mice that carry a L444P knock-in mutation. We found significantly greater formation and spread of ?-synuclein inclusions in Gba1-transgenic mice compared to wild-type controls. This indicates that the Gba1 L444P mutation accelerates ?-synuclein pathology and spread.

SUBMITTER: Migdalska-Richards A 

PROVIDER: S-EPMC7444808 | BioStudies | 2020-01-01

REPOSITORIES: biostudies

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