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Autophagic Punctum

Glucocerebrosidase deficits in sporadic Parkinson disease

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Pages 1350-1351 | Received 04 Apr 2014, Accepted 30 Apr 2014, Published online: 15 May 2014
 

Abstract

Parkinson disease (PD) is a progressive neurodegenerative movement disorder characterized pathologically by abnormal SNCA/α-synuclein protein inclusions in neurons. Impaired lysosomal autophagic degradation of cellular proteins is implicated in PD pathogenesis and progression. Heterozygous GBA mutations, encoding lysosomal GBA/glucocerebrosidase (glucosidase, β, acid), are the greatest genetic risk factor for PD, and reduced GBA and SNCA accumulation are related in PD models. Here we review our recent human brain tissue study demonstrating that GBA deficits in sporadic PD are related to the early accumulation of SNCA, and dysregulation of chaperone-mediated autophagy (CMA) pathways and lipid metabolism.

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Disclosure of Potential Conflicts of Interest

No potential conflicts of interest were disclosed.

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