• 대한유전성대사질환학회지
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• 제6권1호
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• pp.96-107
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• 2006

Citrin deficiency resulting from mutations of SLC25A13is associated with two major clinical phenotypes; neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset type 2 citrullinemia (CTLN2). In Korea, 7 cases of citrin deficiency have been diagnosed based on biochemical and molecular findings. Four NICCD cases were identified by newborn screening using MS/MS or presenting symptoms like cholestatic jaundice. They are all males, presenting with conjugated hyperbilirubinemia, elevated liver enzymes, hypoalbuminemia, mild hyperammonemia, elevated citrullin, methionine and threonine. All of them have been spontaneously recovered from hepatic manifestation by the age of 6-8 months. Mutation analysis has been performed using their genomic & cDNAs obtained from skin fibroblasts. They turned out to be compound heterozygotes carrying each of 851del4, IVS11+1G>A, and IVS13+1G>A. Three CTLN2 patients were identified. Two adult male patients presented with a sudden loss of consciousness, seizure, vomiting, hyperammonemia and citrullinemia in their twenties. They carried an IVS13+1G>A, 851del4, and IVS11+1G>A mutant alleles. The other CTLN2 patient was 52 year old female patient, manifesting lethargy, altered consciousness, irritability and hyperammonemia. Similar clinical symptoms had recurred at the delivery of first and second babies in her past medical history. She was managed by hemodialysis and survived with neurological sequellae. Also, we screened the presence of 9 common mutations in 500 Korean newborns using dried blood spot of filter papers. Only a allele carried 854del4 mutation. In conclusion, the entire picture of citrin deficiency in Korea including incidence, genotype, clinical features and natural courses, is still vague at the present time.

• 대한의생명과학회지
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• 제23권2호
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• pp.133-137
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• 2017

Periodontitis is the major causation of tooth loss in the elderly population. Multiple risk factors include oral microorganisms, smoking, metabolic syndrome, and genetic factors influence periodontitis development. In this study, we conducted a replication study of using previous Korean GWAS results by examining an independent population. The study population was recruited from Mir Dental Clinic, Daegu, Korea. In total, 93 samples were evaluated from July 2016 to January 2017. The sample groups include relatively older patients (>60 years) with no periodontitis (n = 31) and relatively younger patients (range 40~60 years) with severe periodontitis (n = 62). A total of seven markers which were previously reported to be associated with periodontitis were genotyped. Among the seven SNPs, rs16846206 and rs2392510 showed a significant association by logistic regression analysis and Chi square test, respectively. The former SNP showed significant association with severe periodontitis, whereas this study also showed same tendency in which individuals with the minor allele are significantly more frequent in cases than those in controls. The SNP is located on a coding gene (SLC9C2), where the alanine residue 505 is replaced by glycine (Ala505Gly). The later SNP was significant when differed between case and control groups, but there was no significance by logistic regression analysis when controlled for age and sex as covariant. Although the study population size examined in the current study was relatively smaller compared to previous studies, our results implicated that at least the two SNPs (rs16846206 and rs2392510) might be important candidates for the further genetic study.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.73-78
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• 2020

Purpose: Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of disorders characterized by impaired neuromuscular transmission. This study aims to provide the clue for early diagnosis and improved therapeutic strategies in CMS. Materials and Methods: Through the targeted panel sequencing including twenty CMS causative genes, eleven patients were genetically confirmed and enrolled in this study. A retrospective medical record review was carried out for the clinical and laboratory data analysis. Results: The age of patients ranged from 5 to 23 years, with the median age of 16 years. The peak age at onset of symptoms was the neonatal period. Seven out of the eleven patients were symptomatic at birth. The most commonly reported initial finding was generalized hypotonia with poor sucking and crying. Mean time to accurate diagnosis was 9.3±5.0 years. Total fifteen different variants in seven genes associated with CMS (DOK7, AGRN, RAPSN, CHRNE, COLQ, SLC5A7, and GFPT1) were identified. Conclusion: We describe the clinical and genetic characteristics of CMS patients and treatment outcome in a single tertiary center. High clinical suspicion and timely molecular diagnosis is particularly important for the tailored therapy to maximize clinical improvement in CMS.

• 한국대기환경학회지
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• 제20권4호
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• pp.465-481
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• 2004

We determined Asian dust days by constructing the standard of Asian dust using PM$_{10}$ concentrations ($\geq$150 $\mu\textrm{g}$m$^{-3}$ , 24-hr average) and TOMS aerosol index ($\geq$0.7) for 5 years (1998-2002), and grouped Into long-lasted cases (LLCs, $\geq$4 days) and short-lasted cases (SLCs, $\leq$2 days) concerning the mean lasting time (about 3 days) of Asian dust. Further we performed the specific analyses associated with concentration variations and synoptic conditions by using PM$_{10}$ and TOMS data, weather maps during the dusty cases (LLCs and SLCs). As a result, the LLCs (9 cates) had large variations of PM$_{10}$ concentration as the mean of 131.1$\mu\textrm{g}$m$^{-3}$ and the maximum mean of 379.8$\mu\textrm{g}$m$^{-3}$ , and showed dominant features the continuous passage of deep trough caused by blocking effect and weak trough (56%, 5 cases) over Korea. The SLCs (11 cases) had relatively small variations of PM$_{10}$ concentration as the mean of 133.3$\mu\textrm{g}$m$^{-3}$ and the maximum mean of 247.2$\mu\textrm{g}$m$^{-3}$ , and showed passage of one weak trough (64%, 7 cases) over Korea. Thereafter, the case studies (April 7-13, 2002 of LLC and March 23-24, 2000 of SLC) performed by the simulation of MM5 with meteorological variables of the horizontal wind, potential temperature, isentropic potential vorticity, and helped to better understand the features of synoptic conditions in connection with the concentration variations for each case.

• International Journal of Oral Biology
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• 제31권2호
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• pp.53-65
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• 2006

Calcium concentration in the bone resorption lacunae is high and is in the mM concentration range. Both osteoblast and osteoclast have calcium sensing receptor in the cell surface, suggesting the regulatory role of high extracellular calcium in bone metabolism. In vitro, high extracellular calcium stimulated osteoclastogenesis in coculture of mouse osteoblasts and bone marrow cells. Therefore we examined the genes that were commonly regulated by both high extracellular calcium and $1,25(OH)_2vitaminD_3(VD3)$ by using mouse oligo 11 K gene chip. In the presence of 10 mM $[Ca^{2+}]e$ or 10 nM VD3, mouse calvarial osteoblasts and bone marrow cells were co-cultured for 4 days when tartrate resistant acid phosphatase-positive multinucleated cells start to appear. Of 11,000 genes examined, the genes commonly regulated both by high extracellular calcium and by VD3 were as follows; 1) the expression of genes which were osteoclast differentiation markers or were associated with osteoclastogenesis were up-regulated both by high extracellular calcium and by VD3; trap, mmp9, car2, ctsk, ckb, atp6b2, tm7sf4, rab7, 2) several chemokine and chemokine receptor genes such as sdf1, scya2, scyb5, scya6, scya8, scya9, and ccr1 were up-regulated both by high extracellular calcium and by VD3, 3) the genes such as mmp1b, mmp3 and c3 which possibly stimulate bone resorption by osteoclast, were commonly up-regulated, 4) the gene such as c1q and msr2 which were related with macrophage function, were commonly down-regulated, 5) the genes which possibly stimulate osteoblast differentiation and/or mineralization of extracellular matrix, were commonly down-regulated; slc8a1, admr, plod2, lox, fosb, 6) the genes which possibly suppress osteoblast differentiation and/or mineralization of extracellular matrix, were commonly up-regulated; s100a4, npr3, mme, 7) the genes such as calponin 1 and tgfbi which possibly suppress osteoblast differentiation and/or mineralization of extracellular matrix, were up-regulated by high extracellular calcium but were down-regulated by VD3. These results suggest that in coculture condition, both high extracellular calcium and VD3 commonly induce osteoclastogenesis but suppress osteoblast differentiation/mineralization by regulating the expression of related genes.

• Animal Bioscience
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• 제36권5호
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• pp.740-752
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• 2023

Objective: Dietary phytase increases bioavailability of phytate-bound phosphorus (P) in pig nutrition affecting dietary calcium (Ca) to P ratio, intestinal uptake, and systemic utilization of both minerals, which may contribute to improper bone mineralization. We used phytase to assess long-term effects of two dietary available P (aP) levels using a one-phase feeding system on gene expression related to Ca and P homeostasis along the intestinal tract and in the kidney, short-chain fatty acids in stomach, cecum, and colon, serum, and bone parameters in growing gilts and barrows. Methods: Growing pigs (37.9±6.2 kg) had either free access to a diet without (Con; 75 gilts and 69 barrows) or with phytase (650 phytase units; n = 72/diet) for 56 days. Samples of blood, duodenal, jejunal, ileal, cecal, and colonic mucosa and digesta, kidney, and metacarpal bones were collected from 24 pigs (6 gilts and 6 barrows per diet). Results: Phytase decreased daily feed intake and average daily gain, whereas aP intake increased with phytase versus Con diet (p<0.05). Gilts had higher colonic expression of TRPV5, CDH1, CLDN4, ZO1, and OCLN and renal expression of TRPV5 and SLC34A3 compared to barrows (p<0.05). Phytase increased duodenal expression of TRPV5, TRPV6, CALB1, PMCA1b, CDH1, CLDN4, ZO1, and OCLN compared to Con diet (p<0.05). Furthermore, phytase increased expression of SCL34A2 in cecum and of FGF23 and CLDN4 in colon compared to Con diet (p<0.05). Alongside, phytase decreased gastric propionate, cecal valerate, and colonic caproate versus Con diet (p<0.05). Phytase reduced cortical wall thickness and index of metacarpal bones (p<0.05). Conclusion: Gene expression results suggested an intestinal adaptation to increased dietary aP amount by increasing duodenal trans- and paracellular Ca absorption to balance the systemically available Ca and P levels, whereas no adaption of relevant gene expression in kidney occurred. Greater average daily gain in barrows related to higher feed intake.

• Molecules and Cells
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• 제28권6호
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• pp.529-536
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• 2009

Genome sequencing of the pig is being accelerated because of its importance as an evolutionary and biomedical model animal as well as a major livestock animal. However, information on expressed porcine genes is insufficient to allow annotation and use of the genomic information. A series of expressed sequence tags of 5' ends of five full-length enriched cDNA libraries (SUSFLECKs) were functionally characterized. SUSFLECKs were constructed from porcine abdominal fat, induced fat cells, loin muscle, liver, and pituitary gland, and were composed of non-normalized and normalized libraries. A total of 55,658 ESTs that were sequenced once from the 5′ ends of clones were produced and assembled into 17,684 unique sequences with 7,736 contigs and 9,948 singletons. In Gene Ontology analysis, two significant biological process leaf nodes were found: gluconeogenesis and translation elongation. In functional domain analysis based on the Pfam database, the beta transducin repeat domain of WD40 protein was the most frequently occurring domain. Twelve genes, including SLC25A6, EEF1G, EEF1A1, COX1, ACTA1, SLA, and ANXA2, were significantly more abundant in fat tissues than in loin muscle, liver, and pituitary gland in the SUSFLECKs. These characteristics of SUSFLECKs determined by EST analysis can provide important insight to discover the functional pathways in gene networks and to expand our understanding of energy metabolism in the pig.

• 한국식품영양과학회지
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• 제42권12호
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• pp.1930-1939
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• 2013

본 연구에서는 천연 식품으로부터 면역증진능을 갖는 식품 소재를 검색하기 위한 연구의 일환으로 골대사 약화 상태의 마우스에게 청국장 배합 사료를 투여했을 때 카제인 배합사료에 비하여 가질 수 있는 세포 매개성 면역능의 증강 효과를 규명하기 위한 목적으로 실시되었다. 제 1단계로서 난소적출군은 저칼슘 식이, Sham군은 AIN-76 식이를 6주간 공급한 후, 각 군을 청국장 배합 사료군 혹은 카제인 배합사료군으로 나누어 8주간 제 2단계의 식이를 공급하였다. 면역 지표로는 비장세포 증식능, 혈중 T 림프구 아형수와 혈중 사이토카인(IL-2, IL-4, IL-6, IL-10, IFN-${\gamma}$, TNF-${\alpha}$)의 분비량을 측정하였다. 그 결과 난소적출군에서 청국장배합 사료군의 비장 세포 증식능이 카제인 배합 사료군보다 유의적으로 높았으며, 혈중 T 림프구 아형 비율인 CD4/CD8의 비율도 청국장 배합 사료군에서 더 높았다. 혈중 사이토카인 분비량을 측정한 결과 난소적출군에서 청국장 배합 사료 투여군의 IL-6와 TNF-${\alpha}$ 분비량이 카제인 배합 사료 투여군에 비해 유의적으로 낮았다. 난소적출 마우스의 면역능에 청국장 배합 사료가 미치는 영향으로 카제인 배합사료에 비하여 비장 세포 증식능 활성화, 골 대사와 연관있는 대표적 사이토카인인 IL-6와 TNF-${\alpha}$ 분비 억제 및 조절 등을 들 수 있다. 뿐만 아니라, 체중 증가량을 조절하는 역할을 하는 것으로 관찰되었다. 따라서 청국장 배합 사료는 난소적출 마우스 면역계의 조절 기전에 작용하여 면역세포 활성을 촉진시키고 효과적으로 작용할 수 있으리라 사료된다. 이러한 연구 결과를 토대로 기능성 식품 개발에 기초연구 자료가 될 것으로 기대되며 향후 청국장의 면역 활성물질의 분리 및 동정을 위한 연구의 뒷받침이 될 수 있을 것으로 생각된다.

• 한국작물학회지
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• 제56권4호
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• pp.299-307
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• 2011

본 연구는 수도권 매립예정 간척지 중 대규모의 유휴지에 농촌진흥청 국립식량과학원에서 특허 출원한 물억새의 일종인 거대억새1호, 간척지 자생 물억새 및 자생 갈대의 에너지 작물을 바이오에너지 생산 목적으로 쓰레기 매립 예정지에서 재배한 최초의 연구로서 매립예정 간척지의 적응성 및 활용가치가 높은 에너지 작물을 선정함과 동시에 간척지 토양의 하수슬러지 고화물 처리로 인한 에너지 작물의 생육 상태 모니터링 및 토양화학성의 변화를 조사하였다. 1. 각 시험구의 토양 pH범위는 6.7~8.3이었으며 하수슬러지 고화물을 처리한 시험구는 원지반토보다 낮은 pH를 나타내었다. 원지반토의 염농도는 하수슬러지 고화물을 처리한 시험구에 비해 높은 치환성 나트륨 함량을 보이며 높은 염농도를 나타내었다. 2. 하수슬러지 고화물 처리구의 토양 유기물 함량은 재식 초기에는 원지반토에 비해 4배와 7배 높았고, 생육후기에도 2.9~5.6%로 원지반토의 0.75%에 비해 많았다. 3. 각 시험구의 에너지 작물 생육조사결과 거대억새1호가 다른 에너지 작물에 비해 간척지 토양에 하수슬러지 고화물을 투입한 시험구에 대한 적응력이 우수한 것으로 판단되었다. 4. 간척지에 하수슬러지 고화물의 투입으로 인하여 염해 완충능이 향상되는 등 토양이화학성이 개선되었으며, 에너지 작물의 생육이 원지반토에 비해 양호했던 점을 보아 매립예정 간척지의 토양 복토제로서 활용 가능성을 확인하였다. 5. 각 시험구의 에너지 작물 수확 후 마른줄기 수량을 조사한 결과 거대억새1호는 타 에너지 작물에 비해 가장 높은 바이오매스량을 나타내며, 거대억새1호는 바이오에너지 생산을 위한 최적의 에너지 작물임을 확인하였다.