No abstract available.
Gaucher Disease*

No abstract available.
Gaucher Disease*

Gaucher disease is the most common lysosomal storage disorder. Resveratrol is a natural polyphenol that possesses a wide range of beneficial effects, including anti-inflammatory, anti-oxidant, and neuroprotective activities. The aim of this study was to determine if resveratrol has a therapeutic effect on primary fibroblast cells derived from a patient with type III Gaucher disease. 3-(4,5- Dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assays were performed to determine the effect of resveratrol on cell survival. The expression levels of apoptosis-inducing factor (AIF), Bcl-2-associated X protein (Bax), caspase-3, acetyl-coenzyme A acetyltransferase 1 (ACAT1), E3- binding protein (E3BP), and citrate synthase (CS) were evaluated by western blotting to characterize the effect of resveratrol treatment on Gaucher disease cells. Thin-layer chromatography (TLC) was carried out to measure changes in glucosylceramide levels in resveratrol-treated patient cells. Resveratrol increased the viability of patient cells compared to that of untreated control cells. Resveratrol treatment dose-dependently decreased AIF, Bax, and cleaved caspase-3 levels, whereas ACAT1, E3BP, and CS expression dose-dependently increased. TLC analysis showed reduced levels of glucosylceramides in resveratrol-treated patient cells. These findings demonstrate that resveratrol can relieve cellular stress due to glucosylceramide accumulation, and suggest that it should be studied further as a new therapeutic approach for the treatment of Gaucher disease.
Gaucher Disease

Gaucher disease is the most common of the lysosomal storage diseases caused by a defect in the lysosomal enzyme βglucocererbrosidase resulting in multi-organ involvement. The presence of cholelithiasis has been rarely observed among patients with non-neuronopathic type of Gaucher disease and the exact pathophysiology is still unknown. We report a Filipino child with chronic neuronopathic Gaucher Disease noted to have cholelithiasis on routine whole abdominal ultrasonography as part of the regular monitoring of the disease.
Gaucher Disease ; Cholelithiasis ; Gaucher Disease

No abstract available.
beta-Glucosidase* ; Gaucher Disease*

Gaucher Disease ; Humans

Gaucher Disease ; diagnosis ; Humans

No abstract available.
Gaucher Disease* ; Humans ; Siblings*

Humans ; Gaucher Disease/pathology*

Gaucher Disease ; Humans