• The Korean Journal of Cytopathology
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• v.7 no.1
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• pp.79-83
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• 1996

Gaucher's disease is an autosomal recessive disorder resulting from mutation at the glucocerebrosidase locus on chromosome 1q21. As a result, glucocerebroside accumulates principally in the phagocytic cells known as Gaucher cells. In our case, a five-year old girl was admitted with seven days' history of fever and abdominal distension. At physical examination the patient had hepatosplenomegaly. Laboratory tests revealed a hemoglobin concentration of 2.8g/L: platelet counts of $23,000/{\mu}l$: normal range of white cell and differential counts, and negative Coombs' test. Liver enzymes were normal. For the evaluation of hepatosplenomegaly, fine needle aspiration was performed blindly against the palpable spleen. Wet-fixed hematoxylin and eosin-stained smears are made. The smears from the spleen showed predominantly macrophages with abundant cytoplasm and rather small, uniform, often eccentric nuclei with small nucleoli. The multinucleated cells were often found. The cytoplasm was pale, with more or less distinct fibrillarity. The cells had the characteristic appearance of Gaucher cells. Gaucher cells were also found in the tissue section from the liver, spleen and lymph node and the bone marrow aspirate. The diagnosis was later confirmed by determination of bela-glucosidase activity in peripheral blood leucocytes. Fine needle aspiration of the spleen is considered as a convenient procedure with a low complication rate for the diagnosis of lysosomal storage disease.

• The Journal of Internal Korean Medicine
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• v.41 no.1
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• pp.44-58
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• 2020

Objectives: This study was conducted to identify the protective effects of Chongmyunggongjin-dan (CMGJD) on Hydrogen peroxide (H₂O₂)-induced apoptosis mechanisms in C6 glial cells. Method: We used CMGJD after distilled water extraction, filtration, and lyophilization. The ROS scavenging effect was examined by fluorescence microscopy. Expression levels of proteins related to ROS generation were investigated by western blotting. Functional changes in organelles related to Reactive oxygen species (ROS) generation were investigated by immunoblotting and by verifying expression level of relevant enzymes. Results: The CMGJD extract protected the cells against H₂O₂-induced morphological changes and DNA fragmentation, inhibited the increase of Heme_oxygenase-1(HO^-1) and the decrease in catalase, protected against the loss of mitochondrial membrane potential, inhibited disturbances of lysosomal function, and induced an increase in peroxisomes. Conclusion: CMGJD was confirmed to have a protective effect on H₂O₂-induced C6 glial cell death possibly by blocking the pathways causing damage to subcellular organelles, such as mitochondria, lysosomes, and peroxisomes. We assume that CMGJD will be effective for the prevention and treatment of ischemic stroke in a clinical environment.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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• pp.37-41
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• 2014

Fabry disease is an X-linked disease caused by deficiency of the lysosomal enzyme alpha-galactosidase A. Affected males present anhydrosis, acroparesthesia and angiokeratoma, and subsequently cardiac, cerebral and renal complications are followed. Females and atypical variants show heterogeneous clinical symptoms. In 2001, two recombinant enzymes were approved for Fabry disease: agalsidase alpha and agalsidase beta. Since the introduction of enzyme replacement therapy (ERT), the number of long-term follow-up studies has been reported. Long-term ERT showed effectiveness on renal function in patients with chronic kidney disease, decrease or stabilization of left ventricular mass, and improvement of pain and quality of life. However, there were limited effects on cerebrovascular events and their mortality. Current literatures on the clinical effect of ERT have reported limited datain adult patients who have already advanced disease. Therefore, further study for pre-symptomatic patients and atypical variants is needed to verify the impact of ERT. This review summarized recent progresses in ERT and limitations of long-term effect of ERT in patients with Fabry disease.

• Natural Product Sciences
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• v.9 no.2
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• pp.112-116
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• 2003

The antitumor and immunostimulating activities of Acanthopanax sessiliflorus fruits were investigated. Polysaccharide isolated from this plant, when administered consecutively for 9 days at 50 and 100 mg/kg i.p. in mice, caused a significant increase in the life span and a significant decrease in the tumor weight and volume in mice inoculated with Sarcoma-180 tumor cells. Polysaccharide was also demonstrated to exhibit phagocytosis-enhancing activity as measured by the carbon clearance in mice. Polysaccharide, when administered i.p. at 50 and 100 mg/kg/day for 3 consecutive days, exhibited a significant RCtr/RCc [the rate of regression coefficient of the animals teated (RCtr) to that of the control (RCc)], being 1.44 (PI = 1), 1.52 (PI = 2) which was approximately the same with that of enhancement of phagocytosis, its potency as expressed by the regression coefficient ratio of zymosan (RCtr/RCc = 1.55, PI = 2), a typical phagocytosis enhancer. Polysaccharide also caused a significant increase in the acid phosphatase activity representing lysosomal enzymes in macrophages at 1-100 ig/ml in vitro in compliance with in vivo results. These results suggest that the antitumor activity of polysaccharide might be related to the immunostimulating function.

• Molecules and Cells
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• v.39 no.7
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• pp.566-572
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• 2016

Lysosomes are cellular organelles containing diverse classes of catabolic enzymes that are implicated in diverse cellular processes including phagocytosis, autophagy, lipid transport, and aging. Lysosome-associated membrane proteins (LAMP-1 and LAMP-2) are major glycoproteins important for maintaining lysosomal integrity, pH, and catabolism. LAMP-1 and LAMP-2 are constitutively expressed in Salmonella-infected cells and are recruited to Salmonella-containing vacuoles (SCVs) as well as Salmonella- induced filaments (Sifs) that promote the survival and proliferation of the Salmonella. LAMP-3, also known as DC-LAMP/CD208, is a member of the LAMP family of proteins, but its role during Salmonella infection remains unclear. DNA microarray analysis identified LAMP-3 as one of the genes responding to LPS stimulation in THP-1 macrophage cells. Subsequent analyses reveal that LPS and Salmonella induced the expression of LAMP-3 at both the transcriptional and translational levels. Confocal Super resolution N-SIM imaging revealed that LAMP-3, like LAMP-2, shifts its localization from the cell surface to alongside Salmonella. Knockdown of LAMP-3 by specific siRNAs decreased the number of Salmonella recovered from the infected cells. Therefore, we conclude that LAMP-3 is induced by Salmonella infection and recruited to the Salmonella pathogen for intracellular proliferation.

• Korean Journal of Food Science and Technology
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• v.50 no.6
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• pp.642-652
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• 2018

Rhus verniciflua (RV) Stokes is a herbal medicine that helps improve blood circulation by stimulating digestion, removing extravasated blood, and raising body temperature. The purpose of this research was to study the anti-inflammatory effect of fermented soy products (FSP) containing a fermented RV (FRV) extract on lipopolysaccharides (LPS)-treatedd RAW 264.7 cells. Treatment with FRV extracts (1, 10, $100{\mu}g/mL$) downregulated nitric oxide (NO) and pro-inflammatory cytokines as compared to the LPS-treated group. Besides, the RV extract treatment suppressed the expression of genes related to pro-inflammatory cytokines, matrixins, inflammation, and apoptosis, while increasing the expression of genes involved in the antioxidant system. Furthermore, RVS extract upregulated antioxidant enzymes, such as glutathione, Cu,Zn-SOD, and catalase without changes in the Nrf2-Keap1 pathway. FSP (doenjang, ganjang) containing FRV extracts (0.1, 1, or $10{\mu}g/mL$) significantly decreased the NO and IL-6 levels in an FSP after 8 weeks of fermentation, but not the expression of genes involved in the inflammation and antioxidant system. These result indicate that an FRV extract and FSPs have a potential application in inflammatory conditions.

• Journal of Acupuncture Research
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• v.19 no.2
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• pp.51-64
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• 2002

We have compared(using the same series of experimental tissue samples) the levels of proteolytic enzyme activities and free radical-induced protein damage in synovial fluid from RA and CPH cases. Many protease types showed significantly increased (typically by a factor of approximately 2-3-fold) activity in RA, compared to normal rats. However, CPH significantly reduced the cytoplasmic enzyme activities of arginyl aminopeptidase, leucyl aminopeptidase, pyroglutamyl aminopeptidase, tripeptidyl aminopeptidase, and proline endopeptidase to almost about 1/10 each. For the Iysosomal proteases, synovial fluid samples from RA rats, CPH significantly reduced the enzyme activities of cathepsin B, dipeptidyl aminopeptidase I and dipeptidyl aminopeptidase II. In extracellular matrix degrading(collagenase, tissue elastase) and leukocyte as sociated proteases (leukocyte elastase, cathepsin G), CPH decreased these enzyme activities of collagenase, tissue elastase and leukocyte associated elastase in RA. In cytoplasmic and lysosomal protease activities in plasma from RA. CPH and normal plasma samples were not significantly different, suggesting that altered activity of plasma proteases (particularly those enzymes putatively involved in the immune response) is not a contributory factor in the pathogenesis of RA. In addition, the level of free radical induced damage to synovial fluid proteins was approximately twice that in RA, compared with CPH. CPH significantly decreased the level of ROS induced oxidative damage to synovial fluid proteins (quantified as protein carbonyl derivative). Therefore we conclude that both proteolytic enzymes and free radicals are likely to be of equal potential importance as damaging agents in the pathogenesis of inflammatory joint disease, and that the design of novel therapeutic strategies for patients with the latter disorder should include both protease inhibitory and free radical scavenging elements. In addition, the protease inhibitory element should be designed to inhibit the action of a broad range of protease mechanistic types (i.e. cysteine-, metallo- and serine- proteinases and peptidases). However, increased protein damage induced by ROS could not be rationalised in terms of compromised antioxidant total capacity, since the latter was not significantly altered in RA synovial fluid or plasma compared with CPH.

• Clinical and Experimental Pediatrics
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• v.51 no.6
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• pp.650-654
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• 2008

Glycogen storage disease (GSD) and mucopolysaccharidosis (MPS) are both independently inherited disorders. GSD is a member of a group of genetic disorders involving enzymes responsible for the synthesis and degradation of glycogen. GSD leads to abnormal tissue concentrations of glycogen, primarily in the liver, muscle, or both. MPS is a member of a group of inherited lysosomal storage diseases, which result from a deficiency in specific enzymatic activities and the accumulation of partially degraded acid mucopolysaccharides. A case of a 16-month-old boy who presented with hepatomegaly is reported. The liver was four finger-breadth-palpable. A laboratory study showed slightly increased serum AST and ALT levels. The liver biopsy showed microscopic features compatible with GSD. The liver glycogen content was 9.3% which was increased in comparison with the reference limit, but the glucose-6-phosphatase activity was within the normal limit. These findings suggested GSD other than type I. Bony abnormalities on skeletal radiographs, including an anterior beak and hook-shaped vertebrae, were seen. The mucopolysaccharide concentration in the urine was increased and the plasma iduronate sulfatase activity was low, which fulfilled the diagnosis criteria for Hunter syndrome (MPS type II). To the best of the authors' knowledge, this is the first case of GSD and Hunter syndrome being identified at the same time.

• Clinical and Experimental Pediatrics
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• v.48 no.10
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• pp.1132-1138
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• 2005

Purpose : The mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. They are caused by a deficiency of the enzymes involved in the degradation of glycosaminoglycans. Early recognition is important because recombinant enzyme replacement therapy is now available for MPS. We studied the clinical characteristics of 80 MPS children with the object of determining the epidemiological, clinical and radiological features in Korean MPS children. Methods : Diagnosis of MPS was confirmed by skin fibroblast enzyme analysis in 80 patients between February 1995 and December 2004. Charts were retrospectively reviewed for clinical and radiological findings, as well as for intelligence and speech evaluations. Results : Hunter syndrome (MPS type II) was the most prevalent type, appearing in 51/80 cases (64 %), followed by Sanfilippo syndrome (MPS III-18%), Hurler syndrome (MPS I-15%), and Morquio syndrome (MPS IV-4%). The average age at diagnosis was 5.5 years (range 1 to 20), and the male-to-female ratio was 4.7 : 1. Typical radiographic changes were observed in 45/54 cases (83%). Mitral regurgitation was the most common cardiac defect. Moderate to profound mental retardation and hearing loss were present in 14/35 cases (56%) and 33/38 cases (82%), respectively. Four MPS II patients had bone marrow transplantation, with mixed outcomes. Five MPS I patients are currently on enzyme replacement therapy. Conclusion : Our study showed a high proportion of MPS II cases (64%), which may represent population variability. By studying the clinical features of these patients, we hope to alert pediatricians of the warning signs of MPS.