Gitelman 증후군 환자에서 면역조직화학법으로 확인한 원위세관 sodium-chloride cotransporter (NCCT)의 결손

장혜련 ( Hye Ryoun Jang ),허남주 ( Nam Ju Heo ),손민정 ( Min Jung Son ),이재욱 ( Jay Wook Lee ),이정환 ( Jeong Hwan Lee ),전은실 ( Un Sil Jeon ),신성준 ( Sung Jun Shin ),나기영 ( Ki Young Na ),주권욱 ( Kwon Wook Joo ),이정상 ( Jun 대한내과학회 2005 대한내과학회지 Vol.69 No.6

목적 : Gitelman 증후군은 저포타시움혈증, 대사성 알칼리증, 고레닌혈증, 고알도스테론혈증, 요 중 칼슘 배설의 저하 및 저마그네슘혈증을 특징으로 하는 유전성 질환이다. 이는 원위세관 sodium-chloride cotransporter (NCCT)의 유전자 돌연변이에 의하여 발생하는 것으로 알려져 있으나 사람의 신조직에서 NCCT 결손이 증명된 바는 없었다. 방법 : 저자들은 임상적으로 Gitelman 증후군이 의심되는 환자에서 이뇨제를 이용한 신청소율 검사와 유전자 검사를 시행하였고, 이를 통하여 감별진단한 Gitelman 증후군 환자의 신조직에서 인간 NCCT에 대한 토끼 다클론 항체를 이용한 면역조직화학법을 시행하였다. 신세포암으로 신적출술을 시행 받은 환자의 정상 신조직과 전해질 이상이 없었던 사구체신염 환자의 신조직을 각각 정상 대조군과 질환 대조군으로 하였다. 결과 : 대상 환자는 저포타시움혈증과 대사성 알칼리증, 저마그네슘혈증 및 요 중 칼슘 배설의 저하를 보였다. Bartter 증후군과 감별을 위하여 furosemide 및 hydrochlorothiazide를 이용한 신청소율 검사를 시행하였다. 수분 부하를 시행한 기저치(86.1%)에 비해서 furosemide를 투여한 후 distal fractional chloride reabsorption이 감소하였으나(9.7%) hydrochlorothiazide 투여 후에는 변화가 없었다(81.4%). 유전자 검사 결과 SLC12A3 유전자의 돌연변이(S967F)가 발견되었다. 신조직에서 면역조직화학법을 시행한 결과 정상 및 질환 대조군에서는 원위세관 세포의 내강 막 쪽에 NCCT가 뚜렷이 염색되었으나, Gitelman 증후군에서는 원위세관 세포의 NCCT에 대한 면역 반응성이 관찰되지 않았다. 반면에 Na/K-ATPase, Na-K-2Cl cotransporter, calbindin-D28K는 대조군과 대상 환자의 신조직에서 모두 관찰되었다. 결론 : 기능적 검사로 진단된 Gitelman 증후군 환자의 신조직에서 NCCT의 결함을 면역조직화학법으로 확인하였다. Background : Gitelman`s syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. It is known to be caused by a mutation of SLC12A3 gene coding the sodium-chloride cotransporter (NCCT) in the distal tubule. The defect of NCCT in human renal tissues has not been investigated, and we tested whether the defect of NCCT can be detected in renal tissue of a patient with Gitelman`s syndrome by using immunohistochemistry. Methods : In an adult patient with Gitelman`s syndrome, blood and urine samples were collected for measurement of biochemical parameters. Renal clearance study and gene analysis were performed. Immunohistochemistry was performed on the renal tissue of the patient using a rabbit polyclonal antibody directed against a synthetic peptide corresponding to a portion in the amino terminal tail for human NCCT. Normal human renal tissues from surgical nephrectomy due to renal cell carcinoma and renal biopsy tissues from patients with glomerulonephritis but without any electrolyte disturbance were used as controls. Results : The patient had hypokalemic metabolic alkalosis, hypocalciuria and hypomagnesemia. Renal clearance study revealed a decrease in distal fractional chloride reabsorption after the administration of furosemide. SLC12A3 gene mutation (S967F) was found by direct sequencing method. Immunohistochemistry showed the absence of NCCT staining in the renal tissue of the patient. On the other hand, the immunostaining of other transporters was all positive in renal tissues from both Gitelman`s syndrome patients and controls. Conclusions : We report the absence of intact NCCT in the renal tissue of a Gitelman`s syndrome patient.(Korean J Med 69:642-650, 2005)

Comparison of dissociation methods on pluripotency of stem cells

Na Yeon Gu,Jienny Lee,Mi Jeong Park,Jeong Su Byeon,Da Un Jeong,In Soo Cho,Sang Ho Cha 한국예방수의학회 2017 예방수의학회지 Vol.41 No.4

Induced pluripotent stem cells (iPSCs) can be generated from adult cells. Somatic cells can be reprogrammed to form iPSCs by overexpressing transcription factors such as Oct4, Sox2, cMyc, and Klf4. To maintain undifferentiated state of iPSCs in vitro, cells have traditionally been maintained on mouse embryonic fibroblast feeders and passaged by enzymatic or mechanical dissociation methods. In this study, we compared the morphology and pluripotency of porcine iPSCs (piPSCs) after subsequent passaging using enzymatic and mechanical dissociation methods. Enzymatically and mechanically passaged piPSCs showed embryonic stem cell-like morphologies with compact cell adhesion and clear colony borders. In addition, alkaline phosphatase staining was positive for both enzymatically and mechanically passaged piPSCs. However, visual observation revealed that some colonies of enzymatically passaged piPSCs were spontaneously differentiated more than those of piPSCs mechanically passaged from 5 passage. Quantitative real-time RT-PCR demonstrated that enzymatically and mechanically passaged piPSCs expressed pluripotent genes such as Oct4, Sox2 and Nanog well at early passage. Immunofluorescent staining also confirmed that pluripotent markers such as Oct4, Sox2, and Nanog were positively expressed at early passage. However, expression levels of pluripotent genes in mechanically passaged piPSCs were also higher than those in enzymatically passaged piPSCs at early passage. Collectively, we found that mechanical passage method was better than enzymatic passage in terms of morphology and pluripotency of piPSCs at early passage. Further studies are needed to compare these dissociation methods with those obtained after more passages of piPSCs.

Differential Sensitivity of Rice Cultivars to HPPD - Inhibiting Herbicides

Sang-Yeol Kim,Sang-Ik Han,Jong-Hee Lee,Seong-Hwan Oh,Woo-Duck Seo,Ki-Chang Jang,Ji-Eun Na,Jun-Hyeon Cho,Ji-Yoon Lee,Kyung-Jin Choi,You-Chun Song,Un-Sang Yeo,Hang-Won Kang 한국잡초학회 2011 한국잡초학회 별책(학술대회 초록집) Vol.31 No.2

Draft guidelines for euthanasia and humane endpoints for zebrafish

Sang Wha Kim,Won Joon Jung,Seung Hee Han,Sun Kyeong Kim,Heui Jin Kim,Dong Jin Baek,Su Hee Lim,Ja Un Tae,Yirang Na,Seung Hyeok Seok 한국실험동물학회 2023 한국실험동물학회 학술발표대회 논문집 Vol.2023 No.2

Slide Session : OS-END-34 ; Endocrinology : Pathway Analysis Using Genome-Wide Association Study of Polycystic Ovary Syndrome

( Un Jin Shim ),( Do Kyeong Song ),( Hye Jin Lee ),( Jee Young Oh ),( Young Sun Hong ),( Han Na Kim ),( Hyung Lae Kim ),( Yeon Ah Sung ) 대한내과학회 2014 대한내과학회 추계학술대회 Vol.2014 No.1

Background: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women of reproductive age, influenced by environmental and genetic factors. Genetic studies in PCOS are recently focusing on the identification of susceptibility loci through genome-wide associations studies (GWAS). However, GWAS focuses more on individual single nucleotide polymorphisms (SNPs) meeting a stringent statistical significance and most of the SNPs identified lack a functional relevance. To further elucidate the data obtained from the GWAS, pathway-based approaches are being applied. The aim of this study is to elucidate the biological pathways or gene sets involved in the pathogenesis of PCOS through pathway analysis. Methods: Two thousand unselected women of reproductive age who volunteered for evaluation of PCOS were recruited. After eliminating invalid data through the quality control procedures, 636,797 autosomal SNPs representing 1,221 individuals (432 PCOS and 789 control women) were obtained. Pathway based approach was conducted using meta-analysis gene-set enrichment of variant association (MAGENTA). Top ranking pathways or gene sets associated with PCOS were identified, and significant genes within these pathways were also determined. Results: Biological pathways related with oocyte meiosis, regulation of insulin secretion by acetylcholine and free fatty acids were significant through pathway analysis (all nominal gene-set enrichment analysis (GSEA) Ps < 0.05) (Table 1). Within these biological pathways, genes including SMC3, PLCZ1, INS, GNAQ, STXBP1, PLCB3 and PLCB2 were also identified (all Gene Ps < 0.05). Conclusions: Through pathway analysis of PCOS, biological pathways and genes associated with ovulation and insulin secretion were identified. These results might provide new insights in elucidating the pathophysiology of PCOS.

Differences in pregnancy outcomes, prenatal care utilization, and maternal complications between teenagers and adult women in Korea : A nationwide epidemiological study

Lee, Sang Hyung,Lee, Seung Mi,Lim, Nam Gu,Kim, Hyun Joo,Bae, Sung-Hee,Ock, Minsu,Kim, Un-Na,Lee, Jin Yong,Jo, Min-Woo Wolters Kluwer Health 2016 Medicine Vol.95 No.34

<P><B>Abstract</B></P><P>Teenage mothers are at high risk for maternal and neonatal complications. This study aimed to evaluate the socioeconomic circumstances of teenage pregnancy, and determine whether these increased risks remained after adjustment for socioeconomic circumstances in Korea. Using the National Health Insurance Corporation database, we selected women who terminated pregnancy, by delivery or abortion, from January 1, 2010 to December 31, 2010. Abortion, delivery type, and maternal complications were defined based on the International Classification of Diseases-10th Revision. We compared teenagers (13–19 years at the time of pregnancy termination) with other age groups and investigated differences based on socioeconomic status, reflected by Medical Aid (MA) and National Health Insurance (NHI) beneficiaries. We used multivariate analysis to define the factors associated with preterm delivery. Among 463,847 pregnancies, 2267 (0.49%) involved teenagers. Teenage mothers were more likely to have an abortion (33.4%) than deliver a baby when compared with other age groups (20.8%; <I>P</I> < 0.001). About 14.4% of teenage mothers had never received prenatal care throughout pregnancy. Among teenage mothers, 61.7% of MA recipients made fewer than 4 prenatal care visits (vs 38.8% of NHI beneficiaries) (<I>P</I> < 0.001). Teenage mothers more often experienced preterm delivery and perineal laceration (<I>P</I> < 0.001). Teenage mothers (<20 years) were 2.47 times more likely to have preterm delivery than older mothers (20–34 years; <I>P</I> < 0.001). Teenage mothers had higher risk of inadequate prenatal care and subsequently of preterm delivery, which remained significantly higher after adjusting for socioeconomic confounding variables and adequacy of prenatal care in Korean teenagers (<I>P</I> < 0.001).</P>

무 계통간 소포자 유래 배 발달 단계의 해부학적 관찰

김성운(Sung Un Kim),한나래(NaRae Han),배은지(Eun Ji Bae),황순임(Sun Im Hwang),나해영(Haeyoung Na) 한국원예학회 2013 한국원예학회 학술발표요지 Vol.2013 No.10

Nutritional, Chemical and Physical Factors Affecting Microspore Embryo Formation in Raphanus sativus L

Haeyoung Na,Sung Un Kim,Eun ji Bae,Hanyong Park 한국육종학회 2012 한국육종학회 심포지엄 Vol.2012 No.07

Composition of nutrient media, flower bud size, cold pretreatment, heat shock stress, and ethylene inhibitor could have marked effects on microspore embryogenesis. No microspore-derived embryos (MDE) were formed when microspores were isolated from radish (Raphanus sativus L.) flower buds of 1.0-2.5 mm in size, whereas MDE were formed with microspores isolated from 2.5-4.5 and 4.5-6.5 mm flower buds. The microspores isolated from 2.5-4.5 mm flower buds showed high embryo yields. When the isolated microspores were washed with Nitsch & Nitsch (NLN) liquid medium containing 130 g‧L-1 sucrose (NLN-13), the yield of MDE increased significantly when comparing with washing using B-5 liquid medium containing 130 g‧L-1 sucrose.Microspores cultured on half strength NLN liquid medium containing 0.05 mgL-1 silver nitrate (AgNO3) produced the most MDE, showing a more than two-fold increase in yield compared to those cultured on medium without AgNO3. A heat shock pretreatment of microspores at 32°C for 24 h gave high-frequency production of MDE when compare to higher or lower temperatures; no MDE were formed at 42.5°C. Microspore viability is known to decrease rapidly with storage; however, in this experiment, microspore viability was maintained for 24 h at 4°C without media. A polyploidy test indicated that 19.7% of the microspore-derived plants were double haploid, other plants were haploid, and chimeras were haploid and diploid. This protocol is thought to be very useful for efficient production of homozygous lines that is critical for the production of radish F1 hybrids

기부금과 조세회피

박성욱 ( Sung Ook Park ),나형종 ( Hyung Jong Na ),최정운 ( Jeong Un Choi ),정희선 ( Hee Sun Chung ) 한국중소기업학회 2014 기업가정신과 벤처연구 Vol.17 No.2

본 연구는 코스닥 기업을 대상으로 기부활동과 조세회피의 관계에 대해 분석하였다. 본 연구에서는 기업의 기부활동이 사회적 책임의 이행 정도와 관련성이 높다고 판단하였고, 기부활동을 통해 사회적 책임을 성실히 이행하고 있는 기업의 경우 조세회피 성향이 낮을 것으로 예측하였다. 왜냐하면, 법인세 납세의무는 기업의 사회적 책임 측면에서 기부활동과 유사한 맥락에서 해석될 수 있기 때문이다. 즉, 기부활동을 통해 사회적 책임을 성실히 이행하는 기업의 경우 납세의무 역시 성실히 이행할 가능성이 높으므로 조세회피 성향이 낮을 것으로 예측하였다. 본 연구의 가설을 검증하기 위하여, 상장기업 중코스닥 기업만을 대상으로 분석하였다. 중소기업이 대부분인 코스닥 기업의 경우 대기업과 비교하여 기부활동에 대한 사회적 압력이 덜할 뿐만 아니라, 자금상 여유가 부족하고, 재무구조가 불안정하다. 그럼에도 불구하고 기부금을 지출하였다면, 이는 기업이 사회적책임 활동에 더 많은 관심을 두고 있다고 판단된다. 2000년부터 2008년까지 1,868개의 기업-연도 관측치를 통해 분석한 결과, 매출액 대비 기부금 지출액 비율이 증가할수록 조세회피 수준은 유의하게 감소하는 것으로 나타났다. 또한 추가분석으로 Heckman(1979)이 제시한 2 stage model을 이용한 분석에서도 일관성 있게 매출액 대비 기부금 지출액 비율과 조세회피 수준 간에 유의한 음(-)의 관계가 나타났다. 이는 본 연구의 가설을 지지하는 결과로서, 상대적으로 매출액 대비 기부금을 많이 지출하는 기업일수록 비윤리적 행위인 조세회피를 덜 한다는 것으로 해석이 가능하다. 본 연구는 재무제표에서 쉽게 자료를 획득할 수 있는 기부금 지출액이 기업의 윤리적 수준을 파악하는 하나의 신호(signal) 역할을 할 수 있다는 것을 제시하였다는 데 의미가 있다. 또한, 기업의 윤리적인 활동 측면에서 기부활동과 납세의무의 이행은 유사하다고 보고, 둘 간의 유의한 양의 상관관계를 밝힘으로써, 기업의 조세회피 성향 관련 선행 연구의 범위를 확장하였다. This study examines the association between a firm`s donation activity and its tax avoidance behavior, using KOSDAQ-listed companies. There are several reasons behind managers` decisions to contribute (e.g. political issue, adverting incentives, tax saving incentives and etc.). Among these, we focus on firms` intention to diligently perform their corporate social responsibilities through donation. Specifically, we view that donation by non-large firms may have a more ethical intention than that by large firms, because they will be less likely to be exposed to the social pressure for donation and have less resources to contribute for the purpose of advertising. Our prediction is that if a firm conducts a social contribution activity through donation, it will show a similar pattern of behavior in tax compliance, which we view as another line of activity relevant to corporate social responsibility. Analyzing 1,868 firm-year observations during the period of 2000-2008 for KOSDAQ-listed companies, we document evidence that firms which engage in donation activity tend to pay more taxes. And the result is robust even when we use the two-stage model suggested by Heckman (1979). This suggests that ethical corporate culture which is measured through donation activity influences firms to faithfully comply with tax liability.

Effects of cryopreservation on equine adipose tissue-derived mesenchymal stem cell plasticity

Da-Un Jeong,Jeong Su Byeon,Jienny Lee,Mi Jeong Park,Na-Yeon Gu,In-Soo Cho,Sang-Ho Cha 한국예방수의학회 2018 예방수의학회지 Vol.42 No.1

Mesenchymal stem cells (MSCs), which are present in all tissues, can differentiate into cells with various specific functions. Recently, cell-based therapies using MSCs have been increasing in the veterinary research and related fields. In this study, we investigated the cellular morphology, proliferating capacities, expression of cell surface markers such as CD13, CD34, CD44, CD45, CD90, and CD105, mesodermal differentiation potentials, and expression of senescence-related markers of p53, p21, and telomerase reverse transcriptase in equine adipose tissue-derived MSCs (eAD-MSCs) after cryopreservation. The eAD-MSCs were analyzed immediately and after being frozen in liquid nitrogen for 1 year (< 1 year, G1) and more than 3 years (> 3 years, G2), respectively. After cryopreservation for 1 - 3 years, G2 eAD-MSCs showed similar cellular morphology, proliferating capacities, and expression of cell surface markers when compared with G1 eAD-MSCs. Moreover, cryopreservation did not affect the adipogenic, chondrogenic, or osteogenic differentiation potentials of G1 and G2 eAD-MSCs. Collectively, cryopreservation for (or over) 3 years maintained the stem cell phenotype and differentiation potentials of eAD-MSCs. These results will be an advantage that can be effectively used for future development of cell-based therapies.