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

Published version
Peer-reviewed

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Authors

Migdalska‐Richards, Anna 
Wegrzynowicz, Michal 
Verona, Guglielmo 
Bellotti, Vittorio 

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.

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Keywords

Research Article, Research and analysis methods, Biology and life sciences, Medicine and health sciences, Engineering and technology

Journal Title

PLOS ONE

Conference Name

Journal ISSN

1932-6203

Volume Title

15

Publisher

Public Library of Science