Purpose : Glycogen storage disease type III (GSD-III) is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme, amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), is responsible for the debranching of the glycogen molecule during catabolism. The disease shows clinical and biochemical heterogeneity, reflecting genotype-phenotype heterogeneity among different patients. In this study, we aim at analyzing mutations of the AGL gene in three unrelated Korean GSD-III patients, and characterizing their clinical and laboratory findings. Methods : We characterized the clinical features of three unrelated Korean GSD-III patients by biochemical, histological and imaging studies. The 35 exons and part of exon-intron boundaries of AGL were analyzed by direct sequencing using genomic DNA extracted from the peripheral leukocytes of patients. Results : Diverse clinical features were observed in these patients including hepatomegaly (all patients), seizures (patient 2), grow th failure (patients 1 and 2), hyperlipidemia (patients 1 and 3), raised transaminase and creatine kinase concentrations (all patients), and mild cardiomyopathy (patient 2). Liver transplantation w as performed in patient 2 due to progressive hepatic fibrosis. A dministration of uncooked corn starch maintained normoglycemia and improved biochemical and growth profiles. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 had c.1510_1511insT (p.Y 504L fsX 10), and patient 3 had c.3416 T >C (p.L 1139P) and c.1735+1 G>T (p.Y 538_R578delfsX 4) mutations. A part from the p.R428K mutation, the 4 other substitutions identified w ere nov el. Conclusion : GSD-III patients display variable phenotypic characteristics resembling those of GSD-Ia. Molecular defects in the AGL gene of Korean GSD-III patients are genetically heterogeneous.
Purpose Various database comparison methods(DCM) are used for analyzing functional neuro-imaging. It is possible to statistically evaluate decreased or increased metabolism of abnormal patient's brain by comparing with asymptomatic controls in DCM. And results of DCM are additionally used for easily explaining defect region. The aim of this study was to evaluate usefulness of statistical parametric mapping(SPM) and scenium. Materials and Methods Data of 15 patients($62.02{\pm}15.03year$) underwent $^{18}F-FDG$ brain PET/CT were collected and analyzed. Biograph TruePoint 40 with TrueV, (Siemens) was used as a PET/CT scanner. Scenium(version 4.0) in Syngo.via(version VA30A) and SPM99 were applied for statistical evaluation. Consistency between PET reading and result of DCM were evaluated by 5 nuclear medicine physicians through a questionnaire survey. SUV and SD changes were evaluated by changing iteration, gaussian filter and matrix size in scenium. And average required time for generating result of SPM99 and scenium was compared by 3 medical technologists. Results Consistency from the result of SPM99 and scenium showed 84% and 92.4% compare to PET reading. When iteration 4, FWHM 8 and matrix size 168, SUV and SD were decreased by 0.59%, 8.73%, 4.69%, 20.38% and 0.88%, 8.25% respectively compare to routine parameter(iteration 8, FWHM 2 and matrix size 336) of scenium. Average required time of SPM99 and Scenium took 282 seconds and 116 seconds to generate result. Conclusion Results of SPM99 and Scenium showed high consistency compare to PET reading. Various parameters can be controled by user when using SPM. However, normal database needs to be acquired. And it takes significant amount of time and effort for the first set up. On the other hand, Scenium provides normal database even though modifiable parameters are limited. Therefore, more informations could be provided for brain PET/CT if properly understanding and selecting each DCM.
Purpose Vitamin D is essential for maintaining bone health, controling cell proliferation or differentiation, strengthening immune function by controlling calcium metabolism in the body. Vitamin D deficiency can lead to increase the risk of rickets, osteoporosis, cardiovascular disease, diabetes and cancer. Especially, South Korea is one of the highest population proportion of vitamin D deficiency. Accurate determination of levels of 25-OH-VitD or 25-OH-VitD3 in blood serum is required for the diagnosis and treatment of vitamin D deficiency. In this study, radioimmunoassay of 25-OH-VitD and 25-OH-VitD3 was performed and compared to evaluate the effectiveness of Vitamin D radioimmunoassay. Materials and Methods Serum 25-OH-VitD and 25-OH-VitD3 levels were measured using radioimmunoassay. The interrelationship, reproducibility and population distribution rate were evaluated. In addition, the internal quality control was performed at Asan Medical Center from April 2017 to June 2019 and the result of external quality control (Interagency proficiency evaluation) of first and second half of 2018 hosted by the Korean Society of Nuclear Medicine Technology (KSNMT). Both tests were measured by same manufacturer's reagent. Results 25-OH-VitD showed a strong positive correlation on 97 samples, as 25-OH-VitD3 x 0.9 + 0.3 (R>0.9). In repeated measurement, the average Diff(%) value of the reproducibility evaluation of 25-OH-VitD and 25-OH-VitD3 were 7.7% and 7.4%, respectively. Population distribution results showed no statistically significant differences(p>0.05). The resultant value of internal quality control, which measured from April, 2017 to June 2019 in Blood test room of Nuclear Medicine at Asan Medical Center, showed average (CV%) 6.2% and 6.8%, respectively. As a result of the external quality control (interagency proficiency evaluation) Z value obtained under 2.0, as shown below; Conclusion The interrelationship, reproducibility, population distribution rate, internal quality control and external quality control between 25-OH-VitD and 25-OH-VitD3 radioimmunoassay shows superior outcome. Radioimmunoassay, which can be alone measured in the blood as 25-OH-VitD or 25-OH-VitD3, is considered suitable screening tests for the diagnosis of vitamin D deficiency.
Kim, Gyeom-Heon;Hwang, Won-Uk;Kim, Hyun-Jin;Kim, Soo-Ki
Journal of The Korean Society of Grassland and Forage Science
/
v.36
no.2
/
pp.115-123
/
2016
In this study, the effect of energy and protein ratio on the nutrient availability and body weight gain was determined to find the proper nutrient level for the stage of replacement dairy heifers before fertilization at approximately 12~24 months old after birth. Dry matter intake showed that the TDN/CP rate of T1 (5.0:1), T2 (4.5:1) and T3 (4.0:1) resulted in similar values. Among feces, the ash content of T1 was 11.07%, which was significantly (p < 0.05) higher than that of T3 (9.69%). It was also significantly (p < 0.05) higher than that of T2 (10.32%). When the TDN/CP rate was increased, the ash content in the feces was also increased. Regardless of the initial weight, weight gain was increased significantly as the CP rate in the feed was increased on the $30^{th}$ day. On the $60^{th}$ day, T2 showed the highest rate of gain (p < 0.05). As the TDN rate was decreased or the protein rate was increased, weight gain was significantly (p < 0.05) increased. Regarding GPT level in the blood after finishing the test, T1 and T3 (112.6, 88.3 u/l) showed significantly (p < 0.05) higher value than T2 (50.9 u/l). For phosphorus level, T1 (46.3 mg/dl) showed significantly (p < 0.05) higher value than other treatments. For HDL cholesterol level, T2 (145.2 mg/dl) had significantly (p < 0.05) higher level than T1 (121.0 mg/dl) or T3 (132.3 mg/dl). For triglyceride levels, T3 (40.6 mg/dl) had significantly (p < 0.05) higher value than T1 (20.7 mg/dl) and T2 (29.0 mg/dl). For other blood parameters including BUN concentration, there were no significant (p > 0.05) difference among treatments. As a result, although feed intake and weight gain with TDN/CP rate of 4:1 showed best results, considering the excess body fat accumulation possibilities or blood metabolism, it seems 4.5:1 ratio is most appropriate.
This study investigated the physiochemical properties, the anti-oxidant and alcohol metabolism enzyme activities, and the anti-inflammatory effects of three muskmelon vinegars prepared under different fermentation conditions, namely MV-1, MV-2, and MV-3. The total acidity of each vinegar was 4.00%, 4.32%, and 4.35%, respectively. Organic acid analysis showed that malic acid (58.37 mg/ml) was the most prevalent in MV-1 and that acetic acid was most prevalent in both MV-2 (46.95 mg/ml) and MV-3 (66.70 mg/ml). The total phenolic content of the muskmelon vinegars was highest at $129.74{\mu}g$ tannic acid equivalents (TAE)/ml in MV-3. The DPPH radical scavenging activity of the vinegars increased in a dose-dependent manner (p<0.05) and was 89.28% at MV-3 40% concentration. Similarly, SOD activitity increased in a concentration-dependent manner (p<0.05) so that levels for MV-1, MV-2, and MV-3 at 60% concentrations were 40.84%, 52.17% and 72.55%, respectively (p<0.05). Moreover, the ADH and ALDH activities of muskmelon vinegar were seen to increase in a concentration-dependent manner; ADH activity at 60% concentration was highest at 136.58% in MV-1 and ALDH activity at 60% concentration was highest at 100.25% in MV-2. The nitrite scavenging activities of MV-1, MV-2, and MV-3 at pH 1.2 were found to be 81.58%, 94.72%, and 87.75%, respectively. Anti-inflammatory effects were also examined, using LPS-stimulated RAW 264.7 cells, and nitric oxide production was reduced to 25.93%, 10.01%, and 79.75% by addition of MV-1, MV-2, and MV-3 at 1% concentration, respectively (p<0.05). These results suggest that the MV-3 muskmelon vinegar has great potential as an ingredient for high quality functional health beverages.
Purpose: Dyslipidemia is a major risk factor for cardiovascular disease. Pine needles (Pinus densiflora seib et Zucc) are a traditional medicine used to treat dyslipidemia in clinical settings. This study examined the potential effects of sulgidduk, a Korean traditional rice cake containing pine needle juice to protect against dyslipidemia induced by a high-fat/sugidduk diet in a rat model. Methods: Twenty one male Sprague-Dawley rats were divided randomly into three groups: normal control (NC), Sulgidduk diet (SD), Sulgidduk diet containing pine needle juice (PSD). The blood lipid levels, production of lipid peroxide in the plasma and liver, total cholesterol and triglyceride in the liver and feces, antioxidant enzyme activities in plasma and erythrocytes were measured to assess the effects of PSD on dyslipidemia. Results: A high-fat/Sulgidduk diet induced dyslipidemia, which was characterized by significantly altered lipid profiles in the plasma and liver. The food intake was similar in the three groups, but weight gain and food efficiency ratio (FER) were reduced significantly in the PSD group compared to those in the SD group. The level of total cholesterol, LDL-cholesterol and TBARS in the plasma showed tendencies to decrease in the PSD group compared to those in the SD group. The levels of high-fat/Sulgidduk diet-induced sterol regulatory element-binding protein 2 (SREBP2) gene expression were reduced significantly in the PSD group. The supplementation of PSD reduced the hepatic triglyceride and total cholesterol levels significantly, and enhanced the fecal excretion of triglyceride and hepatic antioxidant enzyme activities compared to the SD group. Conclusion: These results suggest that the addition of 0.4% pine needle juice to Sulgidduk may be an alternative snack to control dyslipidemia.
Sim, Hyun A;Shin, Jooyeon;Kim, Ji-Hyun;Jung, Myeong Ho
Journal of Life Science
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v.30
no.12
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pp.1092-1100
/
2020
The six-transmembrane epithelial antigen of prostate 4 (Steap4) is a metalloreductase that plays a role in intracellular iron and cupper homeostasis, inflammatory response, and glucose and lipid metabolism. Previously, Steap4 has been reported to stimulate adipocyte differentiation; however, the underlying mechanisms of this action remain unexplored. In the present study, we investigated the molecular mechanisms involved in Steap4-induced adipocyte differentiation using 3T3-L1 cells, immortalized brown adipocyte (iBA) cells, and mouse embryonic fibroblast C3H10T1/2 cells. The knockdown of Steap4 using adenovirus-containing shRNA attenuated mitotic clonal expansion (MCE), as evidenced by the impaired proliferation of 3T3-L1 cells, iBA cells, and C3H10T1/2 cells within 48 hr after adding the differentiation medium. Steap4 knockdown downregulated G1/S phase transition-related cell cycle regulators (including cyclin A and cyclin D) and upregulated cell cycle inhibitors (including p21 and p27). Furthermore, Steap4 knockdown inhibited the phosphorylation of p38 mitogen-activated protein kinase, extracellular signal-regulated kinase, and Akt. Moreover, Steap4 knockdown repressed the expression of early adipogenic activators, such as CCAAT-enhancer-binding protein β (C/EBPβ) and Kruppel-like factor family factor 4 (KLF4). On the other hand, Steap4 knockdown stimulated the expression of adipogenic inhibitors, including KLF2, KLF3, and GATA2. The overexpression of Steap4 using an adenovirus removed the repressive histone marks H3K9me2 and H3K9me3 on the promoter of C/EBPβ. These results indicate that Stepa4 stimulates adipocyte differentiation through the induction of MCE and the modulation of early adipogenic transcription factors, including C/EBPβ, during the early phase of adipocyte differentiation.
Riboflavin and its derivatives, flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), are key components of mitochondrial energy metabolism and oxidation-reduction reactions. Proposed dietary reference intakes for Koreans (KDRIs), that is, estimated average requirements (EARs), for riboflavin, based on current knowledge of riboflavin and riboflavin derivative levels, and glutathione reductase activity, are 1.3 mg/d for men aged 19-64 years and 1.0 mg/d for women aged 19-64 years. By applying a coefficient of variance of 10%, reference nutrient intakes (RNIs) were set at 1.5 mg/d for men aged 19-64 years and 1.2 mg/d for women aged 19-64 years. Likewise, EARs and RNIs of riboflavin intake were proposed for all age groups and women in specific life stages such as pregnancy. Mean adult riboflavin intake for adults aged ≥ 19 years was 1.69 mg/d in Korea National Health and Nutrition Examination Survey (KNHANES) 2020, which was 124.9% of EAR according to the 2020 KDRIs. In the 2015-2017 KNHANES study, the mean riboflavin intake from foods and supplements was 2.79 mg/d for all age groups, and 32.7% of individuals consumed less riboflavin than EAR according to the 2020 KDRIs. For those that used supplements, mean intakes were 1.50 mg/d for riboflavin from foods, 10.26 mg/d from supplements, and 11.76 mg/d from food and supplements, and 5.5% of individuals consumed less riboflavin than EAR. Although the upper limit of riboflavin has not been established, the merits of increasing supplement use warrant further consideration. Also, additional epidemiologic and intervention studies are required to explore the role of riboflavin in the etiology of chronic diseases.
The purpose of the study was to investigate the content of sinigrin, an index component, in Brassica juncea extract and to evaluate the differentiation of lipocytes, inhibition of production of reactive oxygen species (ROS) and reduction of protein production by lipogenic factors (PPARγ, C/EBPα, aP2) in the processing of Brassica juncea extract and sinigrin in 3T3-L1 preadipocytes which induces Bisphenol A (BPA), an endocrine disrupting environmental hormone. From the investigation, the content of sinigrin in Brassica juncea extract, measured by HPLC, is found to be 21.27±0.2 mg/g. The XTT assay result on BPA-derived 3T3-L1 adipocytes shows there is no cytotoxicity found from 180 µM of sinigrin and 300 ㎍/mL of Brassica juncea extract. Moreover, both intracellular lipid accumulation and ROS production during differentiation of lipocyte are significantly reduced in cells processed with Brassica juncea extract and sinigrin. Lastly, it was also found that the production of transcription factors of lipocyte differentiation, PPARγ, C/EBPα and aP2, were found to be suppressed by the application of Brassica juncea extract and sinigrin. Such results reveals that Brassica juncea is effective in not only suppressing lipid accumulation in the environmental hormone bisphenol A-derived lipocyte, but also in reducing the ROS. The sinigrin-containing Brassica juncea is highly expected to be used in natural functional supplements that prevents the lipid metabolism disorders caused by BPA. There are necessities for additional clinical research and follow-up studies on the in vivo model to verify the relevant mechanisms.
Journal of the Korea Organic Resources Recycling Association
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v.31
no.1
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pp.15-26
/
2023
Methane production by anaerobic digestion occurs through interspecies electron transfer (DIET), a synthetic metabolism between acetic and methanate bacteria through hydrolysis and acid production steps. In this study, to improve methane yield, the effect of addition of magnetite (Fe3O4), a conductor promoting DIET on methane production in food wastewater was investigated, and the effect on methane yield was assessed by methane potential (Bu) and maximum methane production rate [Rm(t0)] by the operation of batch type anaerobic reactor adding Fe3O4. The Bu and Rm(t0) of food wastewater without Fe3O4 were 0.496 Nm3/kg-VSadded and 38.24 mL/day, respectively. The t0 which reached to Rm appeared at 21.06 days during the operation of the anaerobic reactor. The Bu of food wastewater with Fe3O4 was 0.502, 0.498, 0.512, 0.510, 0.518, 0.523, 0.524, 0.540, and 0.549 Nm3/kg-VSadded in the treatment of 5, 10, 15, 20, 25, 30, 40, 70, and 100mM-Fe3O4, respectively, and the Bu significantly increased to 36.95% with the addition of magnetite in the addition of 15mM-Fe3O4. And, the addition of Fe3O4 shortened the duration to reach Rm from 21.06 days to the maximum of 14.67 days by the addition of Fe3O4. Therefore, the methane yield and production rate of food wastewater significantly improved with the addition of Fe3O4.
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