• 한국어류학회지
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• 제32권3호
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• pp.117-129
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• 2020

생물의 종 구분에 이용하는 지표 중 체색은 특징이 뚜렷한 형태 지표로서, 어류의 종 동정에 유용한 형태형질이다. 개볼락은 한국 중부와 남부, 일본 홋카이도 남쪽 등지에 분포하는 상업적으로 중요한 어종으로, 피부에 반점의 유무 및 마킹이 있는 위치에 따라 4개의 아종으로 구분하는 복잡한 체색 특성을 갖는다. 그러나 개볼락의 다양한 체색 패턴과 관련된 유전자 탐색 및 유전자 변이 발굴 등 체색 형성에 관여하는 유전자 규명에 관한 연구는 없다. 이에 따라 본 연구에서는 개볼락의 체색 패턴 관련 유전자 발굴 및 유전자 발현 특성을 규명하기 위한 기초 연구로 체색 타입별 피부 전사체를 프로파일링하였다. 개볼락을 Wild type (반점과 marking 없음)과 Color type (반점과 마킹 모두 있음)으로 구분하였고, 피부 전사체를 RNA-seq 방법을 이용하여 분석하였다. 개볼락 피부 전사체의 발현량을 비교하여 체색 타입별 차등발현유전자 164개를 확보하였다. 이들 차등발현유전자의 기능을 Gene ontology(GO) 분석으로 확인한 결과, 2개는 molecular function, 46개는 biological process, 6개는 cellular component 기능그룹에 속하였다. 차등발현유전자 중 CTL (Galactose-specific lectin nattectin), CUL1 (Cullin-1), CMAS (N-acylneuraminate cytidylyltransferase), NMRK2 (Nicotinamide riboside kinase 2), ALOXE3 (Hydroperoxide isomerase ALOXE3), SLC4A7 (Sodium bicarbonate cotransporter 3) 등은 특정 체색 타입 특이적인 발현양상을 나타냈다. 이번 연구는 개볼락의 체색 패턴 형성에 관여하는 전사체를 탐색한 첫 번째 연구로, 체색 형성 관련 기능유전자 발굴을 위한 후보유전자로 개볼락의 체색 타입별 차등발현유전자를 확보한 것에 의의가 있다. 향후에는 이들 후보유전자의 발현양상 및 기능을 분석하여 개볼락의 복잡한 체색 패턴과 관련된 기능유전자의 특성을 밝히고자 한다.

• 대한유전성대사질환학회지
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• 제15권1호
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• pp.18-24
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• 2015

당원병 Ib형은 드문 유전 대사 질환 중 하나로 SLC37A4 유전자의 장애로 인해 발생한다. 특징적으로 간비대, 저혈당, 고젖산혈증, 고지혈증, 고뇨산증의 임상양상을 보인다. 총 3명(남자 1명, 여자 2명)이 포함되었고 의무기록을 후향적으로 분석하였다. 평균 진단시 나이는 각각 8개월, 26개월, 10세이다. 2명의 환자가 영유아기에 간비대, 저혈당 등으로 발견되었고, 다른 환자는 사춘기에 성장 발육 부전으로 인한 저신장으로 진단되었다. 유전학적 검사에서 c.412T>C (p.Trp 138Arg) (3/6 alleles, 50.0%)가 가장 흔했고 다음으로 p.Leu348Valfs*53 (1 allele), p.Pro191Leu (1 allele), p.Ala148Val (1 allele)가 확인되었다. 요산 강하제, 생 옥수수 전분 복용을 시작하였으며, 모든 환자가 중성구 감소 소견이 관찰되어 G-CSF 투여하였다. 이들 모두 구내염, 장염, 뇌농양과 같은 반복적인 감염이 관찰되었다. 또한 2명은 심한 골다공증으로 칼슘 보충제가 필요하였다. 비교적 일찍 진단된 2명에 비해 10세에 진단된 경우 중증 감염 및 간과 신장의 합병증을 보이고 있었다. 통계학적으로 유의하지 않지만, 비교적 전자의 환자들이 비교적 예후가 좋았다. 본 연구를 통해 동시에 한국의 GSD Ib형 환자의 임상적, 생화학적, 분자유전학적인 특징과 후기 합병증에 대해 보고하는 바이다.

• Journal of Radiation Protection and Research
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• 제48권1호
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• pp.1-8
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• 2023

Background: The purpose of this study is to evaluate the immunosuppressive and antioxidant effects of a novel radioprotective agent using the vitamin E derivative 2-(alpha-D-glucopyranosyl)methyl-2,5,7,8-tetramethylchroman-6-ol (TMG) and its effect on tumors, and to study its usefulness. Materials and Methods: In this study, C57BL/6NCrSlc mice were divided into four groups (control, TMG, radiation therapy [RT], and RT+TMG), using 10 mice in each group. In the TMG and 2 Gy+TMG groups, 500 mg/kg TMG was administered. Two groups (2 Gy and 2 Gy+TMG) among RT and RT+TMG groups were irradiated with 2 Gy in a single fraction, while the other two groups (6 Gy and 6 Gy+TMG) were irradiated locally with 6 Gy in three fractions. Results and Discussion: TMG positively affected CD4+ and CD8+ T lymphocytes. Tumor volumes and growth inhibition rates were compared. In order to evaluate how TMG administration affected tumor growth, Ehrlich cancer cells were injected into the thigh of mice, and the tumor volume and growth suppression rate were compared. Not only RT but also TMG alone inhibited tumor growth. If RT conducted to the mice with TMG, TMG could increase the number of leukocytes, primarily that of lymphocytes. TMG also inhibited tumor growth in addition to RT. Tumor growth was significantly inhibited in the 6 Gy+TMG group. Conclusion: In conclusion, TMG exerted an immunopotentiating effect mainly by increasing the white blood cell numbers including that of lymphocytes. In addition to RT, TMG also inhibited tumor growth. Therefore, TMG is considered to be a useful radioprotective agent in radiotherapy without tumor growth induction.

• 전자공학회논문지
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• 제52권9호
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• pp.54-62
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• 2015

낸드 플래시 기반의 SSD (Solid-State Drive)는 HDD (Hard Disk Drive) 대비 월등한 성능에도 불구하고 쓰기 회수 제한이라는 태생적 단점을 가지고 있다. 이로 인해 SSD의 수명은 워크로드에 의해 결정되어 SSD의 기술 변화 추세인 SLC (Single Level Cell) 에서 MLC (Multi Level Cell) 로의 전환, MLC에서 TLC (Triple Level Cell) 로의 전환에 있어 큰 도전이 될 수 있다. 기존 연구들은 주로 wear-leveling 또는 하드웨어 아키텍처 측면에서 SSD의 수명 개선을 다루었으나, 본 논문에서는 호스트가 요청한 쓰기에 대해 SSD가 낸드플래시 메모리를 통해 처리하는 수명관점의 효율성을 대변하는 WAF (Write Amplification Factor) 관점에서 Host I/O 스택 중 파일 시스템, I/O 스케줄러, 링크 전력에 대해 JEDEC 엔터프라이즈 워크로드를 이용해 I/O 스택 최적 구성에 대해 실험적 분석을 수행하였다. WAF는 SSD의 FTL의 효율성을 측정하는 지표로 수명관점에서 가장 객관적으로 사용한다. I/O 스택에 대한 수명 관점의 최적 구성은 MinPower-Dead-XFS로 최대 성능 조합인 MaxPower-Cfq-Ext4에 비해 성능은 13% 감소하였지만 수명은 2.6 배 연장됨을 확인하였다. 이는 I/O 스택의 최적화 구성에 있어, SSD 성능 관점뿐만 아니라 수명 관점의 고려에 대한 유의미를 입증한다.

• 운동영양학회지
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• 제23권4호
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• pp.26-31
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• 2019

[Purpose] Numerous epidemiological studies have shown that it is possible to prescribe exercise for neurodegenerative disease, such as Alzheimer's disease and Parkinson's disease. However, despite the availability of diverse scientific knowledge, the effects of exercise in this regard are still unclear. Therefore, this study attempted to investigate a substance, such as black chokeberry (Aronia melanocapa L.) that could improve the ability of the treatment and enhance the benefits of exercising in neurodegenerative diseases. [Methods] The cell viability was tested with 2,3-bis[2-methyloxy-4-nitro-5-sulfophenyl]-2H-tetrazolim-5-carboxanilide and the cells were stained with ethidium homodimer-1 solution. The mRNA expression levels were evaluated by microarray. The active compounds of black chokeberry ethanolic extract (BCE) were analyzed by gas chromatography. The chemical shift analysis in the brain was performed using magnetic resonance spectroscopy. [Results] BCE treatment decreased hydrogen peroxide-induced L6 cell death and beta amyloid induced primary neuronal cell death. Furthermore, BCE treatment significantly reduced the mRNA levels of the inflammatory factors, such as IL-1α, Cxcl13, IL36rn, Itgb2, Epha2, Slamf8, Itgb6, Kdm6b, Acvr1, Cd6, Adora3, Cd27, Gata3, Tnfrsf25, Cd40lg, Clec10a, and Slc11a1, in the primary neuronal cells. Next, we identified 16 active compounds from BCE, including D-mannitol. In vivo, BCE (administered orally at a dosage of 50 mg/kg) significantly regulated chemical shift in the brain. [Conclusion] Our findings suggest that BCE can serve as a candidate for neurodegenerative disease therapy owing to its cyto-protective and anti-inflammatory effects. Therefore, BCE treatment is expected to prevent damage to the muscles and neurons of the athletes who continue high intensity exercise. In future studies, it would be necessary to elucidate the effects of combined BCE intake and exercise.

• Childhood Kidney Diseases
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• 제20권2호
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• pp.83-87
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• 2016

Congenital chloride diarrhea (CLD) is a rare autosomal recessive disease that is difficult to diagnose. CLD requires early treatment to correct electrolyte imbalance and alkalosis and to prevent severe dehydration. Renal injury is clearly associated with defective electrolyte balance induced by CLD, particularly during the first months or years of life. A 7-year-old boy was diagnosed with CLD following detection of a homozygous mutation (c.2063-1G>T) in SLC26A3 at 6 months of age. During treatment with electrolyte supplements, mild proteinuria was detected at 8 months of age, and is still present. Renal biopsy showed the presence of focal renal dysplasia, with metaplastic cartilage and mononuclear cell infiltration, calcification, and fibrosis in the interstitium. Up to two-thirds of the glomeruli exhibited global obsolescence, mostly aggregated in the dysplastic area. In nondysplastic areas, the glomeruli were markedly increased in size and severely hypercellular, with increased mesangial matrix, and displayed segmental sclerosis. The marked glomerular hypertrophy with focal segmental glomerulosclerosis suggested a compensatory reaction to the severe nephron loss or glomerular obsolescence associated with renal dysplasia, with superimposed by CLD aggravating the tubulointerstitial damage.

• Molecular & Cellular Toxicology
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• 제2권3호
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• pp.193-201
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• 2006

Cephalexin, one of most widely prescribed cephalosporin, has been reported to cause acute renal failure as a side effect in human and experimental animals. Although numerous animal studies have been reported for the cephalosporin nephrotoxicity, the molecular and cellular nephrotoxic mechanisms of cephalexin are still unknown. This investigation evaluated the time-dependent gene expression profile of kidney in mouse during cephalexin induced nephrotoxicity. C57BL/6 female mice were administered either saline or 1,000 mg/kg cephalexin intraperitoneally. Mice were sacrificed at 3, 6, and 24 hr after administration. Blood biochemical and histopathological results indicated cephalexin induced nephrotoxicity. Microarray experiment carried out using Affymetrix $GeneChip^{(R)}$. There were 198 informative genes that were significantly expressed >5-fold versus control at 3, 6, and 24 hr (p<0.01), of which 156 and 42 were up-and down-regulated, respectively. Major classes of up-regulated genes at 3, 6 hr included those involved in MAPK/Jak-STAT signaling pathway and immune response such as cytokine-cytokine receptor interaction and complement and coagulation cascades. At 24 hr, up-regulated genes were mainly involved in regeneration/repair and immune response; down-regulated genes were generally associated with transporters and intermediary metabolism. Among the up-regulated genes at 24 hr, several potential biomarkers on nephrotoxicity such as Kim-1, Fga, Timp1, and Slc34a2 were clustered in a same category. In addition, Tnfrsf12a and Lcn2 which were consistently up-regulated (>5 fold) were also included as potential biomarkers. These results may provide clues for elucidating the mechanism of cephalexin induced nephrotoxicity and evaluating potential biomarkers to assess nephrotoxicity.

• Genomics & Informatics
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• 제6권1호
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• pp.32-35
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• 2008

Little evidence supports the existence of imprinted genes in chicken. Imprinted genes are thought to be intimately connected with the acquisition of parental resources in mammals; thus, the predicted lack of this type of gene in chicken is not surprising, given that they leave their offspring to their own heritance after conception. In this study, we identified several imprinted genes and their orthologs in human, mouse, and zebrafish, including 30 previously identified human and mouse imprinted genes. Next, using the HomoloGene database, we identified six orthologous genes in human, mouse, and chicken; however, no orthologs were identified for SLC22A18, and mouse Ppp1r9a was not included in the HomoloGene database. Thus, from our analysis, four candidate chicken imprinted genes (IGF2, UBE3A, PHLDA2, and GRB10) were identified. To expand our analysis, zebrafish was included, but no probe ID for UBE3A exists in this species. Thus, ultimately, three candidate imprinted genes (IGF2, PHLDA2, and GRB10) in chicken were identified. GRB10 was not significant in chicken and zebrafish based on the Wilcoxon-Mann-Whitney test, whereas a weak correlation between PHLDA2 in chicken and human was identified from the Spearman's rank correlation coefficient. Significant associations between human, mouse, chicken, and zebrafish were found for IGF2 and GRB10 using the Friedman's test. Based on our results, IGF2, PHLDA2, and GRB10 are candidate imprinted genes in chicken. Importantly, the strongest candidate was PHLDA2.

• Journal of Nutrition and Health
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• 제54권5호
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• pp.435-447
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• 2021

Purpose: Body adiposity is negatively correlated with hepatic iron status, and Korean pine nut oil (PNO) has been reported to reduce adiposity. Therefore, we aimed to study the effects of PNO on adiposity, hepatic mineral status, and the expression of genes and proteins involved in iron absorption. Methods: Five-week-old male C57BL/6 mice were fed a control diet containing 10% kcal from PNO (PC) or soybean oil (SBO; SC), or a high-fat diet (HFD) containing 35% kcal from lard and 10% kcal from PNO (PHFD) or SBO (SHFD). Hepatic iron, copper, and zinc content; and expression of genes and proteins related to iron absorption were measured. Results: HFD-fed mice had a higher white fat mass (2-fold; p < 0.001), lower hepatic iron content (25% lower; p < 0.001), and lower hepatic Hamp (p = 0.028) and duodenal Dcytb mRNA levels (p = 0.037) compared to the control diet-fed mice. Hepatic iron status was negatively correlated with body weight (r = -0.607, p < 0.001) and white fat mass (r = -0.745, p < 0.001). Although the PHFD group gained less body weight (18% less; p < 0.05) and white fat mass (18% less; p < 0.05) than the SHFD group, the hepatic iron status impaired by the HFD feeding did not improve. The expression of hepatic and duodenal ferroportin protein was not affected by the fat amount or the oil type. PNO-fed mice had significantly lower Slc11a2 (p = 0.022) and Slc40a1 expression (p = 0.027) compared to SBO-fed mice. However, the PC group had a higher Heph expression than the SC group (p < 0.05). The hepatic copper and zinc content did not differ between the four diet groups, but hepatic copper content adjusted by body weight was significantly lower in the HFD-fed mice compared to the control diet-fed mice. Conclusion: HFD-induced obesity decreased hepatic iron storage by affecting the regulation of genes related to iron absorption; however, the 18% less white fat mass in the PHFD group was not enough to improve the iron status compared to the SHFD group. The hepatic copper and zinc status was not altered by the fat amount or the oil type.

• Childhood Kidney Diseases
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• 제26권1호
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• pp.63-67
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• 2022

Nephrocalcinosis often occurs in infants and is caused by excessive calcium or vitamin D supplementation, neonatal primary hyperparathyroidism, and genetic disorders. Idiopathic infantile hypercalcemia (IIH), a rare cause of nephrocalcinosis, results from genetic defects in CYP24A1 or SLC34A1. Mutations in CYP24A1, which encodes 25-hydroxyvitamin D 24-hydroxylase, disrupt active vitamin D degradation. IIH clinically manifests as failure to thrive and hypercalcemia within the first year of life and usually remits spontaneously. Herein, we present a case of IIH wih CYP24A1 mutations. An 11-month-old girl visited our hospital with incidental hypercalcemia. She showed failure to thrive, and her oral intake had decreased over time since the age of 6 months. Her initial serum parathyroid hormone level was low, 25-OH vitamin D and 1,25(OH)₂ vitamin D levels were normal, and renal ultrasonography showed bilateral nephrocalcinosis. Whole-exome sequencing revealed compound heterozygous variants in CYP24A1 (NM_000782.4:c.376C>T [p.Pro126Ser] and c.1310C>A [p.Pro437His]). Although her hypercalcemia and poor oral intake spontaneously resolved in approximately 8 months, we suggested that her nephrocalcinosis and renal function be regularly checked in consideration of potential asymptomatic renal damage. Hypercalcemia caused by IIH should be suspected in infants with severe nephrocalcinosis, especially when presenting with failure to thrive.