• Journal of Genetic Medicine
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• 제6권2호
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• pp.170-174
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• 2009

저자들은 생후 3개월에 전형적인 페닐케톤뇨증으로 진단받고 식사요법을 유지하였으나 지연된 발달 소견 및 지능 저하를 보이고 경련 증상이 있었던 9세 남자 환아에서 효소 검사와 유전자분석으로 dihydropterine reductase (DHPR) 결핍증을 진단하였다. 그리고 $BH_4$, 신경전달물질 전구체 투여 및 엽산 보충으로 DHPR 결핍증을 치료한 1례를 경험하였기에 문헌고찰과 함께 보고한다.

• Asian Pacific Journal of Cancer Prevention
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• 제16권4호
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• pp.1615-1619
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• 2015

Background: Promoter hypermethylation mediated gene silencing of tumor suppressor genes is considered as most frequent mechanism than genetic aberrations such as mutations in the development of cancers. BRD7 is a single bromodomain containing protein that functions as a subunit of SWI/SNF chromatin-remodeling complex to regulate transcription. It also interacts with the well know tumor suppressor protein p53 to trans-activate genes involved in cell cycle arrest. Loss of expression of BRD7 has been observed in breast cancers and nasopharyngeal carcinomas due to promoter hypermethylation. However, the genetic status of BRD7 in oral squamous cell carcinomas (OSCCs) is not known, although OSCC is one of the most common among all reported cancers in the Indian population. Hence, in the present study we investigated OSCC samples to determine the occurrence of hypermethylation in the promoter region of BRD7 and understand its prevalence. Materials and Methods: Genomic DNA extracted from biopsy tissues of twenty three oral squamous cell carcinomas were digested with methylation sensitive HpaII type2 restriction enzyme that recognizes and cuts unmethylated CCGG motifs. The digested DNA samples were amplified with primers flanking the CCGG motifs in promoter region of BRD7 gene. The PCR amplified products were analyzed by agarose gel electrophoresis along with undigested amplification control. Results: Methylation sensitive enzyme technique identified methylation of BRD7 promoter region seventeen out of twenty three (74%) well differentiated oral squamous cell carcinoma samples. Conclusions: The identification of BRD7 promoter hypermethylation in 74% of well differentiated oral squamous cell carcinomas indicates that the methylation dependent silencing of BRD7 gene is a frequent event in carcinogenesis. To the best of our knowledge, the present study is the first to report the occurrence of BRD7and its high prevalence in oral squamous cell carcinomas.

• 동의생리병리학회지
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• 제19권6호
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• pp.1585-1593
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• 2005

The genetic effects of restraint stress challenge on HPA axis and the therapeutic effect of Boshimgeonbi-tang on the stress were studied with cDNA microarray analyses, RT-PCR on hypothalamus using an immobilization-stress mice as an animal model. Male CD-1 mice were restrained in a tightly fitted and ventilated vinyl holder for 2hrs once a day, and this challenge was repeated for seven· consecutive days. In the change of body weight it showed that the Boshimgeonbi-tang is effected recovery on weight loss caused by the immobilization-stress. Seven days later, total RNA was extracted from the organs of the mouse, body-labeled with $CyDye^{TM}$ fluorescence dyes and then hybridized to CDNA microarray chip. Scanning and analyzing the array slides were carried out using GenePix4000 series scanner and GenePix $Pro^{TM}$ analyzing program, respectively. The expression profiles of 109 genes out of 6000 genes on the chip were significantly modulated in hypothalamus by the immobilization stress. Energy metabolism-, lipid metabolism-, apoptosis-, stress protein, transcriptional factor, and signal transduction-related genes were transcriptionally activated whereas DNA repair-, protein biosysthesis-, and structure integrity-related genes were down-regulated in hypothalamus. The 58 genes were up-regulated by the mRNA expression folds of 1.5 to 7.9. and the 51 genes were down-regulated by 1.5 - 5.5 fold. The 11 genes among them were selected to confirm the expression profiles by RT-PCR. The mRNA expression levels of Tnfrsf1a (apoptosis), Calm2 (cell cycle), Bag3 (apoptosis), Ogg1 (DNA repair), Aatk (apoptosis), Dffa (apoptosis), Fkbp5 (protein folding) were restored to the normal one by the treatment of Boshimgeonbi-tang.

• 한국대기환경학회지
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• 제26권6호
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• pp.666-682
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• 2010

The forecasting system for Today's and Tomorrow's PM10 was developed based on the statistical model and the forecasting was performed at 9 AM to predict Today's 24 hour average PM10 concentration and at 5 PM to predict Tomorrow's 24 hour average PM10. The Today's forecasting model was operated based on measured air quality and meteorological data while Tomorrow's model was run by monitored data as well as the meteorological data calculated from the weather forecasting model such as MM5 (Mesoscale Meteorological Model version 5). The observed air quality data at ambient air quality monitoring stations as well as measured and forecasted meteorological data were reviewed to find the relationship with target PM10 concentrations by the regression analysis. The PM concentration, wind speed, precipitation rate, mixing height and dew-point deficit temperature were major variables to determine the level of PM10 and the wind direction at 500 hpa height was also a good indicator to identify the influence of long-range transport from other countries. The neural network, regression model, and decision tree method were used as the forecasting models to predict the class of a comprehensive air quality index and the final forecasting index was determined by the most frequent index among the three model's predicted indexes. The accuracy, false alarm rate, and probability of detection in Tomorrow's model were 72.4%, 0.0%, and 42.9% while those in Today's model were 80.8%, 12.5%, and 77.8%, respectively. The statistical model had the limitation to predict the rapid changing PM10 concentration by long-range transport from the outside of Korea and in this case the chemical transport model would be an alternative method.

• Molecules and Cells
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• 제24권2호
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• pp.232-239
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• 2007

$HrpN_{EP}$, from the gram-negative pathogen, Erwinia pyrifoliae, is a member of the harpin group of proteins, inducing pathogen resistance and hypersensitive cell death in plants. When the $hrpN_{EP}$ gene driven by the OsCc1 promoter was introduced into tobacco plants via Agrobacterium-mediated transformation, their resistance to the necrotrophic fungal pathogen, Botrytis cinerea, increased. Resistance to B. cinerea was correlated with enhanced induction of SA-dependent genes such as PR-1a, PR2, PR3 and Chia5, of JA-dependent genes such as PR-1b, and of genes related to ethylene production, such as NT-EFE26, NT-1A1C, DS321, NT-ACS1 and NT-ACS2. However the expression of NPR1, which is thought to be essential for multiple-resistance, did not increase. Since the pattern of expression of defense-related genes in $hrpN_{EP}$-expressing tobacco differed from that in plants expressing $hpaG_{Xoo}$ from Xanthomonas oryzae pv. Oryzae, these results suggest that different harpins can affect the expression of different defense-related genes, as well as resistance to different plant pathogens.

• 한국식품과학회지
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• 제29권5호
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• pp.969-973
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• 1997

고정화 CGTase를 이용하여 당전이 스테비오사이드를 연속적으로 제조하기 위하여 몇가지 생물반응기의 적용가능성을 조사하였다. 연속형 반응기로는 packed-bed reactor(PBR)가 적합하였다. 이때 specific productivity는 0.4 g/hr-g immobilized enzyme으로 회분식반응기의 50% 정도이나 연속생산이 가능한 장점이 있었다. PBR의 운전조건이고 $10{\sim}60\;cm/hr$의 선속도 범위내에서 스테비오사이드 전환률 70% 이상을 보이는 기질의 유속은 공간속도로 $0.5{\sim}0.7\;hr^{-1}$이었다. 고정화 효소의 운전 안정성은 $47^{\circ}C$에서 30%의 기질로 2주 일간 연속 사용이 가능하고, 반응기의 control방법으로 반응기 상부에서 20%의 효소를 교체하면 20일 이상 전환률이 유지되었다.

• 동의생리병리학회지
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• 제25권2호
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• pp.311-317
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• 2011

The goal of this study was to clarify effects of sleep restriction on a diurnal rhythm of salivary cortisol and DHEA levels in Korean adolescents.83 middle school students were recruited to participate in restricted sleep period group (less than 4h/day) or unrestricted sleep period group (from 6h/day to 7h/day). Both were 14 to 17 years old. They were instructed to keep the sleep-awakening schedule and sampling protocol. Saliva samples of cortisol and DHEA were collected at 8h, 12h, 16h and 20h. Salivary hormones were analysed with salivary cortisol(or DHEA) EIA kit according to a fixed assay protocol. Cortisol levels of restricted sleep period group and unrestricted sleep period group significantly decreased according to the sampling times. Cortisol levels of sleep restricted group was significantly higher than those of usual sleep group at all sampling times. At 8h, DHEA levels of both groups were significantly higher than those at 12h, 16h and 20h. However, DHEA levels of restricted sleep period group did not differ from those of unrestricted sleep period group at all sampling times.Cortisol and DHEA levels of both group showed the typical diurnal rhythm regardless of sleep status. Restricted sleep may increased cortisol release, not DHEA release, which indicated a changed HPA axis.

• Genomics & Informatics
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• 제21권2호
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• pp.22.1-22.15
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• 2023

Kidney renal clear cell carcinoma (KIRC) is one of the most aggressive cancer type of the urinary system. Metastatic KIRC patients have poor prognosis and limited therapeutic options. Ankyrin 3 (ANK3) is a scaffold protein that plays important roles in maintaining physiological function of the kidney and its alteration is implicated in many cancers. In this study, we investigated differential expression of ANK3 in KIRC using GEPIA2, UALCAN, and HPA databases. Survival analysis was performed by GEPIA2, Kaplan-Meier plotter, and OS-kirc databases. Genetic alterations of ANK3 in KIRC were assessed using cBioPortal database. Interaction network and functional enrichment analyses of ANK3-correlated genes in KIRC were performed using GeneMANIA and Shiny GO, respectively. Finally, the TIMER2.0 database was used to assess correlation between ANK3 expression and immune infiltration in KIRC. We found that ANK3 expression was significantly decreased in KIRC compared to normal tissues. The KIRC patients with low ANK3 expression had poorer survival outcomes than those with high ANK3 expression. ANK3 mutations were found in 2.4% of KIRC patients and were frequently co-mutated with several genes with a prognostic significance. ANK3-correlated genes were significantly enriched in various biological processes, mainly involved in peroxisome proliferator-activated receptor (PPAR) signaling pathway, in which positive correlations of ANK3 with PPARA and PPARG expressions were confirmed. Expression of ANK3 in KIRC was significantly correlated with infiltration level of B cell, CD8+ T cell, macrophage, and neutrophil. These findings suggested that ANK3 could serve as a prognostic biomarker and promising therapeutic target for KIRC.

• The Korean Journal of Physiology and Pharmacology
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• 제16권1호
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• pp.17-24
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• 2012

The hypothalamus-pituitary-adrenocortex (HPA) axis is the central mediator of the stress response. The supramammillary (SuM) region is relatively unique among the hypothalamic structures in that it sends a large, direct projection to the hippocampal formation. It has been shown that mild stress could activate the SuM cells that project to the hippocampus. However, the role of these cell populations in modulating the stress response is not known. The present study examined the effect of stress on different populations of SuM cells that project to the hippocampus by injecting the fluorescent retrograde tracer, fluorogold (FG), into the hippocampus and utilizing the immunohistochemistry of choline acetyltransferase (ChAT), corticotrophin releasing factor (CRF), serotonin (5-HT), glutamate decarboxylase (GAD), tyrosine hydroxylase (TH) and NADPH-d reactivity. Immobilization (IMO) stress (2 hr) produced an increase in the expression of ChAT- immunoreactivity, and tended to increase in CRF, 5-HT, GAD, TH-immunoreactivity and nitric oxide (NO)-reactivity in the SuM cells. Fifty-three percent of 5-HT, 31% of ChAT and 56% of CRF cells were double stained with retrograde cells from the hippocampus. By contrast, a few retrogradely labeled cells projecting to the hippocampus were immunoreactive for dopamine, ${\gamma}$-aminobutyric acid (GABA) and NO. These results suggest that the SuM region contains distinct cell populations that differentially respond to stress. In addition, the findings suggest that serotonergic, cholinergic and corticotropin releasing cells projecting to the hippocampus within the SuM nucleus may play an important role in modulating stress-related behaviors.

• The Korean Journal of Physiology and Pharmacology
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• 제18권3호
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• pp.191-200
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• 2014

We investigated the anxiolytic-like activity of ${\alpha}$-asarone (AAS) from Acorus gramineus in an experimental rat model of anxiety induced by repeated administration of the exogenous stress hormone corticosterone (CORT). The putative anxiolytic effect of AAS was studied in behavioral tests of anxiety, such as the elevated plus maze (EPM) test and the hole-board test (HBT) in rats. For 21 consecutive days, male rats received 50, 100, or 200 mg/kg AAS (i.p.) 30 min prior to a daily injection of CORT. Dysregulation of the HPA axis in response to the repeated CORT injections was confirmed by measuring serum levels of CORT and the expression of corticotrophin-releasing factor (CRF) in the hypothalamus. Daily AAS (200 mg/kg) administration increased open-arm exploration significantly in the EPM test, and it increased the duration of head dipping activity in the HBT. It also blocked the increase in tyrosine hydroxylase (TH) expression in the locus coeruleus (LC) and decreased mRNA expression of brain-derived neurotrophic factor (BDNF) and its receptor, TrkB, in the hippocampus. These results indicated that the administration of AAS prior to high-dose exogenous CORT significantly improved anxiety-like behaviors, which are associated with modification of the central noradrenergic system and with BDNF function in rats. The current finding may improve understanding of the neurobiological mechanisms responsible for changes in emotions induced by repeated administration of high doses of CORT or by elevated levels of hormones associated with chronic stress. Thus, AAS did exhibit an anxiolytic-like effects in animal models of anxiety.