Migdalska-Richards, A;
Wegrzynowicz, M;
Harrison, IF;
Verona, G;
Bellotti, V;
Spillantini, MG;
Schapira, AHV;
(2020)
L444P Gba1 mutation increases formation and spread of α-synuclein deposits in mice injected with mouse α-synuclein pre-formed fibrils.
PLoS One
, 15
(8)
, Article e0238075. 10.1371/journal.pone.0238075.
Preview |
Text
2020 Magdalska_Richards et al., PLoSONE.pdf - Published Version Download (1MB) | Preview |
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 α-synuclein accumulation, a hallmark of Parkinson disease, is not fully understood. Following our recent finding that Gba1 mutations lead to increased α-synuclein accumulation in mice, we have studied the effects of a single injection of mouse α-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 α-synuclein inclusions in Gba1-transgenic mice compared to wild-type controls. This indicates that the Gba1 L444P mutation accelerates α-synuclein pathology and spread.
Archive Staff Only
 |
View Item |
