• 대한유전성대사질환학회지
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• 제14권1호
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• pp.29-36
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• 2014

Mucopolysaccharidoses (MPSs) are a group of rare inherited metabolic diseases caused by deficiency of lysosomal enzymes. MPSs are clinically heterogeneous and characterized by progressive deterioration in visceral, skeletal and neurological functions. The aim of this article is to review the treatment of MPSs, the unmet needs of current treatments and vision for the future including recent clinical trials. Until recently, supportive care was the only option available for the management of MPSs. Hematopoietic stem cell transplantation (HSCT), another potentially curative treatment, is not routinely advocated in clinical practice due to its high risk profile and lack of evidence for efficacy. From the early 2000s, enzyme replacement therapy (ERT) was approved and available for the treatment of MPS I, II and VI. ERT is effective for the treatment of many somatic symptoms, particularly walking ability and respiratory function, and remains the mainstay of MPS treatment. However, no benefit was found in the neurological symptoms because the enzymes do not readily cross the blood-brain barrier (BBB). In recent years, intrathecal (IT) ERT, substrate reduction therapy (SRT) and gene therapy have been rapidly gaining greater recognition as potential therapeutic avenues. Although still under investigation, IT ERT, SRT and gene therapy are promising MPS treatments that may prevent the neurodegeneration not improved by ERT.

• 한국식품영양학회지
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• 제32권3호
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• pp.251-258
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• 2019

The purpose of this study was to examine the association nutrition education experience in regards to metabolic risk and nutrition intake in Korean adult male using the 2016~2017 Korea National Health and Nutrition Examination Survey as the reference. The study involved a total of 1,978 male subjects aged 40~64 who were classified into the 2 groups based on their nutrition education experience: Educated group (n=88) and non-educated group (n=1,890). The household income and education level of educated group were higher than those of the non-educated group. The two groups showed no significant difference in the level of fasting blood sugar, blood lipid profile including total cholesterol and triglyceride, LDL-cholesterol, and hypertension. Vitamin C intake of the educated group (127.5 mg) was higher compared to the non-educated group (88.2 mg) (p<0.05). The percentage of the subjects utilizing nutritional labels was higher in the educated group. The nutrition education experience was inversely proportional to lower Odds Ratio in hyperLDL-cholesterolemia (OR: 0.47, 95% CI: 0.36, 0.84) and HypoHDL-cholesterolemia (OR: 0.57, 95% CI: 0.37, 0.87). This result indicates that nutritional education can be used as an effective tool to avert chronic diseases and develop healthy eating habits.

• 한국생물공학회:학술대회논문집
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• 한국생물공학회 2001년도 추계학술발표대회
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• pp.739-740
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• 2001

37종의 주요 대사관련 유전자를 triplicate로 사용하여 DNA microarray를 제작하여 라이신 생산균주의 포도당과 원당을 탄소원으로 하여 배양시기에 따른 대사특성을 분석하였다. 포도당과 원당 사용시 C3, C4 대사산물의 변환에 관련된 anaplerosis에 관여하는 유전자의 발현변화가 매우 중요함을 파악할 수 있었다. 또한 배양시기에 따라 매우 특이적인 유선자 발현 양상을 보임을 학인할 수 있었다.

• 대한약침학회지
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• 제27권2호
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• pp.154-161
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• 2024

Objectives: The objective of this study was to assess the genotoxicity of a no-pain pharmacopuncture (NPP) extract developed in 2022 using a bacterial reverse mutation assay, aiming to further substantiate the safety profile of NPP. Methods: The genotoxicity evaluation involved a bacterial reverse mutation assay to assess the mutagenic potential of NPP extracts with and without metabolic activation. Histidine-requiring Salmonella typhimurium strains (TA98, TA100, TA1535, and TA1537) and tryptophan-requiring Escherichia coli strains (WP2uvrA) were used in the assay. Results: The NPP extract did not induce a revertant colony count exceeding two times that of the negative control at any dose level in any of the tested strains, both with and without metabolic activation. Additionally, no growth inhibition or precipitation was observed in the presence of NPP. Conclusion: Based on the findings, it can be concluded that the NPP extract exhibited no mutagenic potential in the in vitro genotoxicity tests conducted.

• 대한유전성대사질환학회지
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• 제3권1호
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• pp.86-93
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• 2003

Background : The SCL began screening of newborns and high risk group blood spots with tandem mass spectrometry (MS/MS) in April 2001. Our goal was to determine approximate prevalence of metabolic disorders, optimization of decision criteria for estimation of preventive effect with early diagnosis. This report describes the ongoing effort to identify more than 30 metabolic disorders by MS/MS in South Korea. Methods : Blood spot was collected from day 2 to 30 (mostly from day 2 to 10) after birth for newborn. Blood spot of high risk group was from the pediatric patients in NICU, developmental delay, mental retardation, strong family history of metabolic disorders. One punch (3.2 mm ID) of dried blood spots was extracted with $150{\mu}L$ of methanol containing isotopically labelled amino acids (AA) and acylcarnitines (AC) internal standards. Butanolic HCl was added and incubated at $65^{\circ}C$ for 15 min. The butylated extract was introduced into the inlet of MS/MS. Neutral loss of m/z 102 and parent ion mode of m/z 85 were set for the analyses of AA and AC, respectively. Diagnosis was confirmed by repeating acylcarnitine profile, urine organic acid and plasma amino acid analysis, direct enzyme assay, or molecular testing. Results : Approximately 31,000 neonates and children were screened and the estimated prevalence (newborn/high risk group), sensitivity, specificity and recall rate amounted to 1:2384/1:2066, 96.55%, 99.98%, and 0.73%, respectively. Confirmed 28 (0.09%) multiple metabolic disorders (newborn/high risk) were as follows; 13 amino acid disorders [classical PKU (3/4), BH4 deficient-hyperphenylalaninemia (0/1), Citrullinemia (1/0), Homocystinuria (0/2), Hypermethioninemia (0/1), Tyrosinemia (1/0)], 8 organic acidurias [Propionic aciduria (2/1), Methylmalonic aciduria (0/1), Isovaleric aciduria (1/1), 3-methylcrotonylglycineuria (1/0), Glutaric aciduria type1 (1/0)], 7 fatty acid oxidation disorders [LCHAD def. (2/2), Mitochondrial TFP def. (0/1), VLCAD def. (1/0), LC3KT def. (0/1). Conclnsion : The relatively normal development of 10 patients with metabolic disorders among newborns (except for the expired) demonstrates the usefulness of newborn screening by MS/MS for early diagnosis and medical intervention. However, close coordination between the MS/MS screening laboratory and the metabolic clinic/biochmical geneticists is needed to determine proper decision of screening parameters, confirmation diagnosis, follow-up scheme and additional tests.

• Allergy, Asthma & Immunology Research
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• 제10권6호
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• pp.628-647
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• 2018

Purpose: Obesity is associated with metabolic dysregulation, but the underlying metabolic signatures involving clinical and inflammatory profiles of obese asthma are largely unexplored. We aimed at identifying the metabolic signatures of obese asthma. Methods: Eligible subjects with obese (n = 11) and lean (n = 22) asthma underwent body composition and clinical assessment, sputum induction, and blood sampling. Sputum supernatant was assessed for interleukin $(IL)-1{\beta}$, -4, -5, -6, -13, and tumor necrosis factor $(TNF)-{\alpha}$, and serum was detected for leptin, adiponectin and C-reactive protein. Untargeted gas chromatography time-of-flight mass spectrometry (GC-TOF-MS)-based metabolic profiles in sputum, serum and peripheral blood monocular cells (PBMCs) were analyzed by orthogonal projections to latent structures-discriminate analysis (OPLS-DA) and pathway topology enrichment analysis. The differential metabolites were further validated by correlation analysis with body composition, and clinical and inflammatory profiles. Results: Body composition, asthma control, and the levels of $IL-1{\beta}$, -4, -13, leptin and adiponectin in obese asthmatics were significantly different from those in lean asthmatics. OPLS-DA analysis revealed 28 differential metabolites that distinguished obese from lean asthmatic subjects. The validation analysis identified 18 potential metabolic signatures (11 in sputum, 4 in serum and 2 in PBMCs) of obese asthmatics. Pathway topology enrichment analysis revealed that cyanoamino acid metabolism, caffeine metabolism, alanine, aspartate and glutamate metabolism, phenylalanine, tyrosine and tryptophan biosynthesis, pentose phosphate pathway in sputum, and glyoxylate and dicarboxylate metabolism, glycerolipid metabolism and pentose phosphate pathway in serum are suggested to be significant pathways related to obese asthma. Conclusions: GC-TOF-MS-based metabolomics indicates obese asthma is characterized by a metabolic profile different from lean asthma. The potential metabolic signatures indicated novel immune-metabolic mechanisms in obese asthma with providing more phenotypic and therapeutic implications, which needs further replication and validation.

• 동의생리병리학회지
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• 제22권6호
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• pp.1626-1632
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• 2008

Among patients who are receiving treatments at an oriental medical hospital for various symptoms and diseases, patients whose main disease is accompanied by metabolic syndrome with abnormal liver function. This research was performed in order to observe the progression of changes in the liver function and serum lipid profile after the oriental medical treatments to patients who have been receiving oriental medical treatment for various other diseases and have been diagnosed as having metabolic syndrome at their first visit to the hospital based on NCEP ATP III diagnosis criteria and WHO Asia Pacific region criteria. Total number of subject patients were 39cases(mean age:55.58${\pm}$2.09 years) which had 20 male and 19 female. For the references for hepatic enzyme levels and blood lipid profile were measured in before treatment and four times after treatments(every 2.31${\pm}$06.17 weeks). Serum AST was 48.86${\pm}$7.46 IU/L before oriental medical treatment. After the treatment, 40.63${\pm}$4.69, 43.12${\pm}$5.46, 37.82${\pm}$4.52 IU/L were measured where although the level decreased to the normal level compared to pre-treatment, the value was not significant statistically(P>0.05). ALT was 66.26${\pm}$11.01 IU/L before oriental medical treatment. After the treatment 62.10${\pm}$8.20, 61.10${\pm}$8.76, 43.79${\pm}$5.68 were measured where although the level decreased, abnormally high level was maintained. The last result was significant statistically(P<0.05) compared to pre-treatment. ALP was 193.06${\pm}$14.20 IU/L before oriental medical treatment. After the treatment, 176.80${\pm}$6.48, 177.46${\pm}$11.81, 162.41${\pm}$9.06 where although compared to pre-treatment the last result was significant statistically(P<0.05), the change was within the normal range. ${\gamma}$-GGT was 87.83${\pm}$12.59 IU/L before oriental medical treatment. After the treatment, progressively near normal level was achieved with 118.73${\pm}$46.45, 85.03${\pm}$17.12, 70.64${\pm}$10.93 and the last result was statistically significant compared to pre-treatment (P<0.05). Blood triglyceride was 217.63${\pm}$32.18 mg/dL before oriental medical treatment. After treatment 215.09${\pm}$22.18, 189.93${\pm}$22.44, 191.22${\pm}$18.51 where abnormal values continued even after treatment although results was not statistically significant compared to pre-treatment(P>0.05). Total-cholesterol was 197.28${\pm}$9.24 mg/dL before oriental medical treatment, after treatment 201.55${\pm}$11.13, 186.87${\pm}$8.77 and 186.68${\pm}$7.61 were measured that results were not statistically significant compared to pre-treatment(P>0.05). HDL-cholesterol was 41.88${\pm}$2.38 mg/dL before oriental medical treatment, after treatment 48.75${\pm}$4.22, 44.10${\pm}$1.91, 48.00${\pm}$2.06 the results were not statistically significant compared to pre-treatment(P>0.05). LDL-cholesterol was 111.66${\pm}$13.08 mg/dL before oriental medical treatment, after treatment 109.94${\pm}$10.18, 101.79${\pm}$8.63, 104.00${\pm}$6.98 the results were not statistically significant compared to pre-treatment(P>0.05). With such results, even if common oriental medical treatments were given to metabolic syndrome patients with abnormal liver function, the liver function was confirmed not to be aggravated, and the concentration of lipids in the blood was confirmed not to be affected in most patients.

• Asian-Australasian Journal of Animal Sciences
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• 제22권11호
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• pp.1504-1512
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• 2009

A feeding trial was conducted to examine the effect of high-temperature-micro-time (HTMT) processing of diets containing extruded soybean (ESB) in high quantity on milk fat production, metabolic responses, and the formation of conjugated linoleic acid (CLA) and trans-vaccenic acid (TVA). Twenty-one multiparous Holstein cows in mid-lactation were blocked according to milk yield in the previous lactation. Cows within each block were randomly assigned to either normal concentrate or HTMT treated diets containing ESB (7.5% HTMT-ESB and 15% HTMT-ESB). It was hypothesized that the HTMT-ESB would affect the undegradable fatty acids in the rumen and, thus, would modify the fatty acid profile of milk fat. Both 7.5% and 15% HTMT-ESB did not affect milk yield, fat, protein, lactose and solid-not-fat (SNF), but the proportion of cis-9, trans-11 CLA in milk fat was significantly increased by these treatments. Content of TVA in milk fat was not affected by HTMT-ESB. The HTMT-ESB influenced the fatty acid profile in milk fat, but there was little difference between 7.5% and 15% of supplementation. HTMT-ESB feeding significantly decreased the concentration of plasma insulin and glucose, while plasma growth hormone (GH), triglyceride (TG), non-esterified fatty acid (NEFA) and HDLcholesterol were increased by 7.5% and 15% ESB-HTMT supplementation in comparison to the control group (p<0.05). However, no significant difference was observed in plasma LDL-cholesterol, insulin like growth factor (IGF)-1, T3, T4, and leptin concentrations among treatments (p>0.05). The present results showed that cis-9, trans-11 CLA production was increased by HTMT treatment of dietary ESB without reduction of milk fat, and the unchanged milk fat and yield was assumed to be associated with the constant level of thyroid hormones, leptin, and IGF-1.

• Toxicological Research
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• 제25권2호
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• pp.59-69
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• 2009

Metabolomics which deals with the biological metabolite profile produced in the body and its relation to disease state is a relatively recent research area for drug discovery and biological sciences including toxicology and pharmacology. Metabolomics, based on analytical method and multivariate analysis, has been considered a promising technology because of its advantage over other toxicogenomic and toxicoproteomic approaches. The application of metabolomics includes the development of biomarkers associated with the pathogenesis of various diseases, alternative toxicity tests, high-throughput screening (HTS), and risk assessment, allowing the simultaneous acquisition of multiple biochemical parameters in biological samples. The metabolic profile of urine, in particular, often shows changes in response to exposure to xenobiotics or disease-induced stress, because of the biological system's attempt to maintain homeostasis. In this review, we focus on the most recent advances and applications of metabolomics in toxicological research.

• 한국산학기술학회논문지
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• 제13권11호
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• pp.5317-5325
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• 2012

본 연구는 대사증후군 및 대사증후군 진단기준 인자의 유병률을 파악하고, 인구사회학적 및 건강관련행위 요인과의 관련성을 검토하며, 진단기준 인자의 군집화를 통해 대사증후군 위험의 분포를 분석하고자 하였다. 조사는 한 대학병원 건강검진센터에서 종합건강검진을 받았던 30세 이상의 지역주민 1,388명을 대상으로 허리둘레, 중성지방, 고밀도지단백콜레스테롤, 수축기혈압, 확장기혈압, 및 공복 시 혈당 등 대사증후군 진단기준 인자를 측정하였다. 분석은 이들 대사증후군 위험인자에 대한 유병률을 파악하고 위험인자의 군집화를 통해 대사증후군 위험의 분포를 파악하였으며, 관련요인에 따른 대사증후군의 위험비를 구하였다. 연구결과 조사대상자의 대사증후군의 유병율은 21.7%로 나타났으며, 대사증후군 위험인자별 유병률은 HDL-C, 혈압, TG, 허리둘레, FBS의 순으로 나타났다. 또한 관련변수에 따른 위험비에서 BMI, 흡연습관, 식품섭취 및 당뇨에 대한 가족력 등이 대사증후군의 위험비를 높이는데 관련된 것으로 나타났다. 따라서 대사증후군의 위험 관리를 위해서는 모든 생활습관 요인에 대한 평가와 중재가 필요함을 시사하고 있다.