The Role of Mutant Glucocerebrosidase and α-Synuclein Oligomerization in Neurodegeneration

¶Sevda Cordier-Dirikoc, BIOalternatives, France by GE Healthcare was used under a Creative Commons license and is available at : http://www.flickr.com/photos/gehealthcare/4253587827/

 

Abstract

Gaucher’s disease is a pathology associated with intracellular accumulation of glucosylceramide due to glucocerebrosidase dysfuntion. Gaucher’s disease, type I in particular,  does not usually present with neurologic components; however, researchers and physicians have recently noted an increased incidence of Parkinsonism in patients with type I Gaucher’s. Parkinson’s disease is a pathology affecting dopaminergic nerve tracts in motor cortices, most notably the substantia nigra. The disease is microscopically characterized by the presence of α-synuclein inclusions (Lewy bodies) in dopaminergic neurons. In an attempt to link the pathologies at a biomolecular level, researchers utilized numerous strategies, all culminating in several common observations: mutations of glucocerbrosidase, mutations of α-synuclein, and lysosomal dysfunction. Accumulated mutations and lysosomal dysfunction result in a complex feed-forward mechanism leading to aberrant ER-Golgi function. This review aims to highlight the previously unknown mechanism of Gaucher-linked Parkinsonism and to shed light on the future direction of linking and treating similar pathologies

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