Journal
GENE
Volume 614, Issue -, Pages 49-55Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.gene.2017.03.004
Keywords
Gaucher's disease; Drosophila melanogaster; Glucocerebrosidase; Sleep; Neurodegenerative disease; Life span
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Funding
- AIST [AAZ30368 B01]
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Gaucher's disease in humans is considered a deficiency of glucocerebrosidase (GlcCerase) that result in the accumulation of its substrate, glucocerebroside (GlcCer). Although mouse models of Gaucher's disease have been reported from several laboratories, these models are limited due to the perinatal lethality of GlcCerase gene. Here, we examined phenotypes of Drosophila melanogaster homologues genes of the human Gaucher's disease gene by using Minos insertion. One of two Minos insertion mutants to unknown function gene (CG31414) accumulates the hydroxy-GlcCer in whole body of Drosophila melanogaster. This mutant showed abnormal phenotypes of climbing ability and sleep, and short lifespan. These abnormal phenotypes are very similar to that of Gaucher's disease in human. In contrast, another Minos insertion mutant (CG31148) and its RNAi line did not show such severe phenotype as observed in CG31414 gene mutation. The data suggests that Drosophila CG31414 gene mutation might be useful for unraveling the molecular mechanism of Gaucher's disease. (C) 2017 Elsevier B.V. All rights reserved.
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