• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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• pp.42-47
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• 2014

Gaucher disease is a multisystemic disorder arising from a deficient activity of the lysosomal enzyme glucocerebrosidase, which leads to accumulation of glycosylceraide and other glycolipids in the regiculoendothelial system. The characteristics of Gaucher disease are anemia, thrombocytopenia, hepatosplenomegaly, and skeletal disease. Enzyme replacement therapy (ERT) has been proven to prevent progressive manifestations of Gaucher disease and effective in improving anemia, thrombocytopenia, bone markers and biomarkers. However, some patient needs still remain unmet because of the inaccessibility of certain sites including brain, bone and various organs. ERT could not Improve the irreversible lesion such as liver fibrosis, hepatopulmonary syndrome, and necrosis or infarction of bone and other organs. Adult patients with Gaucher disease should be screened for longterm complication such as bone disease, pulmonary hypertension, gallstone, and cancer, especially in patients with splenectomy. Parkinsonism and polyneuropathy was also reported among patients with type 1 Gaucher disease, but ERT does not improve neurological function. We need to review the benefits and unmet needs of ERT in Gaucher disease.

• Nutrition Research and Practice
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• v.5 no.2
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• pp.150-156
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• 2011

Few studies have shown the correlation between metabolic syndrome and bone mineral density (BMD). The main pathogenic mechanisms of metabolic syndrome rely on chronic low-level inflammatory status and oxidative stress. There are few studies that examine the gender-specific effects of inflammation and antioxidants on BMD. In this study, we evaluated the relative contribution of these factors in patients with metabolic syndrome. We conducted a cross-sectional study of 67 men and 46 postmenopausal women with metabolic syndrome; metabolic syndrome was defined as having three or more metabolic syndrome risk factors. BMD, body fat mass, and lean body mass were evaluated. We also examined the levels of high sensitive C-reactive protein (hs-CRP), interleukin-6 (IL-6), adiponectin, vitamin E, and C in serum. Log-transformed hs-CRP levels were significantly higher in lumbar spine osteoporotic subjects than in normal subjects for women but not for men. There was no significant difference between the normal group and the osteoporotic group in other inflammatory markers. Stepwise regression analyses for BMD of the lumbar spine showed that lean body mass and vitamin E were significant determinants in men. Lean body mass and log-transformed hs-CRP were significant determinants in women Analysis for BMD of the femoral neck showed that lean body mass was a significant determinant for both men and women. There was no significant factor among the inflammatory markers or antioxidant vitamins affecting the femoral neck BMD for either gender. In conclusion, while hs-CRP is an independent predictor of the BMD of the lumbar spine in women, vitamin E showed profound effects on BMD in men but not women with metabolic syndrome.

• Journal of Nutrition and Health
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• v.45 no.2
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• pp.121-126
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• 2012

This study evaluated the effect of fish oil rich in n-3 fatty acids on bone characteristics in Sprague-Dawley rats. Weanling male rats were randomized to receive either a diet containing high fish oil (FO), fish oil blended with corn oil (FICO), or soy oil rich in n-6 fatty acids (SO) for 4 weeks. All diets provided 70 g/kg fat based on the AIN-93G diet. Growth and biomarkers of bone metabolism were analyzed, and femur bone characteristics were measured by dual-energy X-ray absorptiometry. After the dietary treatment, no significant differences among the diet groups were observed for serum concentrations of Ca, parathyroid hormone, calcitonin, or osteocalcin. Alkaline phosphatase activity was significantly greater in FO-fed rats compared to that in the FICO and SO groups, whereas no difference in deoxypyridinoline values was observed, supporting the positive effect of a FO diet on bone formation. These results were accompanied by a significant increase in femur bone mineral density (BMD) in FO-fed rats. These findings suggest that providing fish oil rich in n-3 fatty acids correlates with higher alkaline phosphatase activity and BMD values, favoring bone formation in growing rats.

• Korean Journal of Exercise Nutrition
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• v.23 no.1
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• pp.13-20
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• 2019

[Purpose] The OPG/RANK/RANKL signaling is a new family of bone metabolism biomarkers belonging to the immune system. However, the bone metabolism response to long-term exercise in the RANKL/RANK/OPG signaling is less evident. The purpose of this study was to examine these biomarkers in healthy college females after 12-weeks combined exercise intervention. [Methods] Participants (N=22, 22.4±1.3yrs) were randomly divided in two different group: 12 in the control group and 10 in the exercise group performing combined exercise program that interventions was conducted 3 times per week for 12 weeks. The outcome measures included serum concentrations of RANKL, OPG and bone metabolic cytokines such as TNF-α and IL-6, and mRNA expressions of same variables from PBMC. VO_2max and bone mineral density (BMD) were measured at before and after exercise intervention. [Results] There were no significant differences in the serum RANKL, OPG concentrations and all RANKL/RANK/OPG signaling mRNA expression on interaction effect between group and time (NS). Also no significant differences were found in the serum TNF-α and IL-6 concentrations and mRNA expression (NS). The IL-6 mRNA expression only showed significant difference in the main effect of groups (p<.05). There were also no significant differences in the VO_2max and BMD on interaction effect between group and time (NS). [Conclusion] These results suggested that there were no effects on bone mineral density and RANKL/RANK/OPG signaling without the effect of 8-weeks combined exercise on cardiovascular endurance fitness.

• Journal of Nutrition and Health
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• v.43 no.4
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• pp.351-356
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• 2010

This study was done to evaluate the effect of Ca source using fish (Tilapia mossambica) scales on the bone metabolism. Male Sprague-Dawley rats, 4 weeks of age, were fed low-calcium diet (0.15% Ca) for 2 weeks. The rats on the low-calcium diet were further assigned to one of following three groups for an additional 4 weeks: 1) Ca-depletion group (LoCa) given 0.15% Ca diet ($CaCO_3$), 2) Ca-repletion group (AdCa) given 0.5% Ca diet ($CaCO_3$), 3) Ca-repletion diet (AdFa) received 0.5% Ca diet (Ca source from Tilapia mossambica scales). Serum parathyroid (PTH) and calcitonin showed no differences among experimental groups. Whereas LoCa group elevated the turnover markers, serum ALP and osteocalcin, and urinary deoxypyridinoline (DPD), AdCa and AdFa groups reduced their values. Elevation in the femoral weight, ash and Ca contents was observed in AdCa and AdFa groups. Bone mineral density was increased in AdCa and AdFa groups by 25-26% compared with LoCa group. These data demonstrate that Ca repletion with either Ca source from Tilapia mossambica scales or $CaCO_3$ is similarly effective in the improvement of bone turnover markers and BMD, suggesting the usefulness of Tilapia mossambica scales in the prevention of bone loss compared with $CaCO_3$.

• Journal of mucopolysaccharidosis and rare diseases
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• v.5 no.1
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• pp.1-7
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• 2021

Gaucher disease (GD, OMIM #230800 OMIM#230800) is a rare, autosomal recessive inherited metabolic disorder caused by mutation in GBA1 encoding the lysosomal enzyme, glucocerebrosidase. The deficiency of glucocerebrosidase leads to an accumulation of its substrate, glucosylceramide in macrophages of various tissues. Common clinical manifestations include cytopenia, splenomegaly, hepatomegaly, and bone lesions. The phenotype of GD is classified into three clinical categories: Type 1 (non-neuronopathic) is characterized by involvements on the viscera, whereas types 2 and 3 (neuronopathic) are associated with not only visceral symptoms but also neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 should be identified as they may be of prognostic value in some cases. Biomarkers including Chitotriosidase, CCL18, and glucosylsphingosine (lyso-GL1) are useful in diagnosis and treatment monitoring. Currently available disease-specific treatment in Korea consists of intravenous enzyme replacement therapy and substrate reduction therapy. For enhancing long-term prognosis, the onset of Parkinson's disease and Lewy body dementia, or the occurrence of a blood disease or cancer (hepatocellular carcinoma) should be monitored in older patients. The development of new strategies that can modify the neurological phenotype are expected, especially in Asia including Korea, where the prevalence of neuronopathic GD is relatively higher than that in western countries.