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- W2914237923 abstract "Gaucher disease is the most common lysosomal storage disease. The neuronal disease variant is characterized by aggregated protein accumulations in the brain and associated neurological manifestations. It is autosomal recessively inherited and modeled by 4L/PS-NA mice that express low levels of prosaposin and saposins, as well as a functionally impaired β-glucosidase (GCase) with a homozygous point mutation at V394L. To use this model for compound tests against Gaucher disease a detailed characterization of these mice is needed. Thus, we aimed to analyze the 4L/PS-NA mice for GCase activity, glucosylsphingosine (GlcSph) and glucosylceramide (GlcCer) levels as well as inflammation over age. The GCase activity is currently analyzed in different tissues using a commercially available GCase activity assay. GlcSph and GlcCer were extracted from brain homogenates using solid-phase extraction cartridges and the levels of GlcSph and GlcCer in the brain extracts were measured by ultrahigh-performance liquid chromatography coupled to tandem mass spectrometry and ultra performance liquid chromatography with time-of-flight mass spectrometry, respectively. To explore neuroinflammatory processes, in particular activated microglia and astrocytosis, in this animal model we performed immunofluorescent labeling on brain sections. Furthermore, KC/GRO (CXCL1) cytokine measurement in the CSF was performed by immunosorbent assay. Finally, mouse embryonic fibroblasts (MEFs) of 4L/PS-NA mice were analyzed as in vitro screening tool. Analyses of enzyme activity and substrate concentrations in 4L/PS-NA mice are currently ongoing. 4L/PS-NA mice showed strong neuroinflammation and increased CXCL1 levels. Analysis of MEFs revealed a strongly reduced GCase activity in the cells from 4L/PS-NA mice compared to C57Bl/6 MEFs but only a minor reduction compared to 4L/PS+/+NA mice harboring wildtype prosaposin. 4L/PS-NA mice thus mimic the most prominent features of Gaucher disease and are a valuable tool for in vitro and in vivo drug development." @default.
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- W2914237923 date "2019-02-01" @default.
- W2914237923 modified "2023-09-25" @default.
- W2914237923 title "Characterization of 4L/PS-NA mice for enzyme activity, substrate concentrations as well as inflammation to model Gaucher disease" @default.
- W2914237923 doi "https://doi.org/10.1016/j.ymgme.2018.12.275" @default.
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