Pathological Role Of Gba2 In Gba1-Deficient Neuronopathic Gaucher'S Disease Model Of Medaka
JOURNAL OF THE NEUROLOGICAL SCIENCES(2017)
Abstract
Background: Recent genetic studies have identified heterozygous mutations in the GBA1 gene as a strong risk factor for sporadic Parkinson’s disease (PD). The GBA1 mutations are responsible for Gaucher’s disease (GD). We have reported that GBA1 knock-out (KO) medaka can survive long enough for pathological analysis of disease progression in contrast to the perinatal death of GBA1 KO mice. Since this neuronopathic GD medaka model displays α-synuclein accumulation, it could be useful to investigate the mechanisms of α-synuclein accumulation in GD and GBA1-related PD. The non-lysosomal β-Glucosidase (GBA2), which is localized at the endoplasmic reticulum and Golgi apparatus, also cleaves glucosylceramide to glucose and ceramide. A recent study has reported that the deletion of GBA2 rescues the visceral manifestation of type1 GD mice model.
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Key words
gba2,disease model
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