• 제목/요약/키워드: ACE genes

검색결과 52건 처리시간 0.037초

청소년 고혈압 관련 유전자의 연관성 분석: Kangwha Study (Association Analysis of the Essential Hypertension Susceptibility Genes in Adolescents: Kangwha Study)

  • 서일;남정모;김성주;신동직;허남욱;강대룡
    • Journal of Preventive Medicine and Public Health
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    • 제39권2호
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    • pp.177-183
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    • 2006
  • Objectives : In this study we examined the association between the genetic markers ACE (A-240T, C-93T, I/D, A2350G), AGT (M235T), AT1R (A1166C), CYP11B2 (T344C, V386A), REN (G2646A), ADRB2 (G46A, C79G, T47C, T1641), GNB3 (C825T) and ADD1 (G460W) and the presence of essential hypertension in adolescents. Methods : The Kangwha Study is an 18-year prospective study that is aimed at elucidating the determinants of the blood pressure level from childhood to early adulthood. For this study, we constructed a case-control dataset of size of 277 and 40 family trios data from the Kangwha Study. For this purpose, we perform a single locus-based case-control association study and a single locus-based TDT (transmission/disequilibrium test) study. Results : In the case-control study, the single locus-based association study indicated that the ADD1 (G460W) (p=0.0403), AGT (M235T) (p=0.0002), and REN (G2646A) (p=0.0101) markers were significantly associated with the risk of hypertension. These results were not confirmed on the TDT study. This study showed that genetic polymorphisms of the ADD1, AGT and REN genes might be related to the hypertension in Korean adolescents. Conclusions : This study provided useful information on genetics markers related to blood pressure. Further study will be needed to confirm the effect of the alpha adducin gene, the angiotensinogen gene and the renin gene on essential hypertension.

Alteration in cellular acetylcholine influences dauer formation in Caenorhabditis elegans

  • Lee, Jeeyong;Kim, Kwang-Youl;Paik, Young-Ki
    • BMB Reports
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    • 제47권2호
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    • pp.80-85
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    • 2014
  • Altered acetylcholine (Ach) homeostasis is associated with loss of viability in flies, developmental defects in mice, and cognitive deficits in human. Here, we assessed the importance of Ach in Caenorhabditis elegans development, focusing on the role of Ach during dauer formation. We found that dauer formation was disturbed in choline acetyltransferase (cha-1) and acetylcholinesterase (ace) mutants defective in Ach biosynthesis and degradation, respectively. When examined the potential role of G-proteins in dauer formation, goa-1 and egl-30 mutant worms, expressing mutated versions of mammalian $G_o$ and $G_q$ homolog, respectively, showed some abnormalities in dauer formation. Using quantitative mass spectrometry, we also found that dauer larvae had lower Ach content than did reproductively grown larvae. In addition, a proteomic analysis of acetylcholinesterase mutant worms, which have excessive levels of Ach, showed differential expression of metabolic genes. Collectively, these results indicate that alterations in Ach release may influence dauer formation in C. elegans.

시금치 nitrate reductase cDNA 클로닝 및 염기서열 분석 (Cloning and Sequence Analysis of Spinach (Spinacia oleracea L. cv Ace) Nitrate Reductase cDNA)

  • 박누리;정종배;박상규
    • Applied Biological Chemistry
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    • 제45권3호
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    • pp.129-133
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    • 2002
  • 키토산 분해물을 시금치와 상추에 살포하였을 때, nitrate 함량이 감소되었으며, 이러한 감소는 nitrate reductase 활성의 증가에 기인한 것으로 나타났다. 이에 따라 채소 중 질산염을 가장 많이 축적하는 채소 중 하나인 시금치의 nitrate reductase를 식물체내에 과량 발현시켜 질산염 축적을 줄이기 위한 연구를 수행하였다. 첫 단계로 시금치 mRNA로부터 RT-PCR을 이용하여 cDNA를 분리, 증폭하고 벡터에 클로닝하여 염기서열을 결정하였다. 시금치 nitrate reductase cDNA의 염기서열은 다른 식물체에서 분리된 nitrate reductase 유전자들과 상당히 높은 상동성($71{\sim}82%$)을 보였고, 이미 발표된 시금치 nitrate reductase cDNA의 염기서열과 비교하였을 때 단지 두 염기만이 달랐다.

Integration and Reanalysis of Four RNA-Seq Datasets Including BALF, Nasopharyngeal Swabs, Lung Biopsy, and Mouse Models Reveals Common Immune Features of COVID-19

  • Rudi Alberts;Sze Chun Chan;Qian-Fang Meng;Shan He;Lang Rao;Xindong Liu;Yongliang Zhang
    • IMMUNE NETWORK
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    • 제22권3호
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    • pp.22.1-22.25
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    • 2022
  • Coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndromecoronavirus-2 (SARS-CoV-2), has spread over the world causing a pandemic which is still ongoing since its emergence in late 2019. A great amount of effort has been devoted to understanding the pathogenesis of COVID-19 with the hope of developing better therapeutic strategies. Transcriptome analysis using technologies such as RNA sequencing became a commonly used approach in study of host immune responses to SARS-CoV-2. Although substantial amount of information can be gathered from transcriptome analysis, different analysis tools used in these studies may lead to conclusions that differ dramatically from each other. Here, we re-analyzed four RNA-sequencing datasets of COVID-19 samples including human bronchoalveolar lavage fluid, nasopharyngeal swabs, lung biopsy and hACE2 transgenic mice using the same standardized method. The results showed that common features of COVID-19 include upregulation of chemokines including CCL2, CXCL1, and CXCL10, inflammatory cytokine IL-1β and alarmin S100A8/S100A9, which are associated with dysregulated innate immunity marked by abundant neutrophil and mast cell accumulation. Downregulation of chemokine receptor genes that are associated with impaired adaptive immunity such as lymphopenia is another common feather of COVID-19 observed. In addition, a few interferon-stimulated genes but no type I IFN genes were identified to be enriched in COVID-19 samples compared to their respective control in these datasets. These features are in line with results from single-cell RNA sequencing studies in the field. Therefore, our re-analysis of the RNA-seq datasets revealed common features of dysregulated immune responses to SARS-CoV-2 and shed light to the pathogenesis of COVID-19.

Investigation of Bacterial Diversity in Membrane Bioreactor and Conventional Activated Sludge Processes from Petroleum Refineries Using Phylogenetic and Statistical Approaches

  • Silva, Cynthia;Jesus, Ederson C.;Torres, Ana P. R.;Sousa, Maira P.;Santiago, Vania M. J.;Oliveira, Valeria M.
    • Journal of Microbiology and Biotechnology
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    • 제20권3호
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    • pp.447-459
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    • 2010
  • Bacterial diversity of two distinct wastewater treatment systems, conventional activated sludge (CAS) and membrane bioreactor (MBR), of petroleum refineries were investigated through 16S rRNA gene libraries. Sequencing and phylogenetic analysis showed that the bacterial community composition of sludge samples was distinct between the two wastewater treatment systems. MBR clones belonged predominantly to Class Betaproteobacteria, represented mainly by genera Thiobacillus and Thauera, whereas CAS clones were mostly related to Class Alphaproteobacteria, represented by uncultured bacteria related to Order Parvularculales. Richness estimators ACE and Chao revealed that the diversity observed in both libraries at the species level is an underestimate of the total bacterial diversity present in the environment and further sampling would yield an increased observed diversity. Shannon and Simpson diversity indices were different between the libraries and revealed greater bacterial diversity for the MBR library, considering an evolutionary distance of 0.03. LIBSHUFF analyses revealed that MBR and CAS communities were significantly different at the 95% confidence level ($P{\leq}0.05$) for distances $0{\leq}D{\leq}0.20$. This work described, qualitatively and quantitatively, the structure of bacterial communities in industrial-scale MBR and CAS processes of the wastewater treatment system from petroleum refineries and demonstrated clearly differentiated communities responsible for the stable performance of wastewater treatment plants.

AlLTPs from Allium species represent a novel class of lipid transfer proteins that are localized in endomembrane compartments

  • Yi, Seung-In;Park, Mee-Yeon;Kim, Ju-Kon;Choi, Yang Do
    • Plant Biotechnology Reports
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    • 제3권3호
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    • pp.213-223
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    • 2009
  • Lipid transfer proteins (LTPs) are widely distributed in the plant kingdom, but their functions remain elusive. The proteins AlLTP2-4 were isolated from three related Allium plants: garlic (A. sativum L.), Welsh onion (A. fistulosum L.), and Nanking shallot (A. ascalonicum L.). These novel proteins comprise a new class of LTPs associated with the Ace-AMP1 from onion (A. cepa L.). The AlLTP genes encode proteins harboring 132 common amino acids and also share a high level of sequence identity. Protein characteristics and phylogenetic analysis suggest that LTPs could be classified into five distinct groups. The AlLTPs were clustered into the most distantly related plant LTP subfamily and appeared to be restricted to the Allium species. In particular, the number of amino acids existing between the fourth and fifth Cys residue was suggested as a conserved motif facilitating the categorization of all the LTP-related proteins in the family. Unlike other LTPs, AlLTPs harboring both the putative C-terminal propeptide and N-terminal signal peptide were predicted to be localized to cytoplasmic vacuoles. When a chimeric GFP protein fused with both N-terminal and C-terminal AlLTP2 signal peptides was expressed in rice cells, the fluorescence signal was detected in the endomembrane compartments, thereby confirming that AlLTPs are an unprecedented intracellular type of LTP. Collectively, our present data demonstrate that AlLTPs are a novel type of LTP associated with the Allium species.

Efficient Elimination of Tetracycline by Ferrate (VI): Real Water Implications

  • Levia Lalthazuala;Lalhmunsiama Lalhmunsiama;Ngainunsiami Ngainunsiami;Diwakar Tiwari;Seung Mok Lee;Suk Soon Choi
    • 공업화학
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    • 제34권3호
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    • pp.318-325
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    • 2023
  • The detection of antibiotics in treated wastewater is a global concern as it enters water bodies and causes the development of antibiotic resistance genes in humans and marine life. The study specifically aims to explore the potential of ferrate (VI) in eliminating tetracycline (TCL). The degradation of TCL is optimized with parametric studies, viz., the effect of pH and concentration, which provide insights into TCL elimination. The increase in pH (from 7.0 to 10.0) favors the percentage removal of TCL; however, the increase in TCL concentrations from 0.02 to 0.3 mmol/L caused a decrease in percentage TCL removal from 97.4 to 29.1%, respectively, at pH 10.0. The time-dependent elimination of TCL using ferrate (VI) followed pseudosecond-order rate kinetics, and an apparent rate constant (kapp) was found at 1978.8 L2 /mol2 /min. Coexisting ions, i.e., NaNO3, Na2HPO4, NaCl, and oxalic acid, negligibly affect the oxidation of TCL by ferrate (VI). However, EDTA and glycine significantly inhibited the elimination of TCL using ferrate (VI). The mineralization of TCL using ferrate (VI) was favored at higher pH, and it increased from 18.57 to 32.52% when the solution pH increased from pH 7.0 to 10.0. Additionally, the real water samples containing a relatively high level of inorganic carbon spiked with TCL revealed that ferrate (VI) performance in the removal of TCL was unaffected, which further inferred the potential of ferrate (VI) in real implications.

소아 Henoch-$Sch{\ddot{o}}nlein$ 신염의 예후 인자 (Prognostic Factors in Children with Henoch-$Sch{\ddot{o}}nlein$ Purpura Nephritis)

  • 최현진;조희연;김어진;이병섭;강희경;하일수;정해일;최용
    • Childhood Kidney Diseases
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    • 제9권2호
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    • pp.183-192
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    • 2005
  • 목 적 : 소아 HSPN의 임상 경과와 이에 영향을 미치는 예후 인자를 조사하였다. 방 법 : 소아 HSPN 환자 75명(남아 44명, 여아 31명)을 대상으로 하였으며 발병연령은 $8.0{\pm}3.1$세(2.3-l5.3세)였고 추적관찰 기간은 $4.3{\pm}3.6$년(1.0-17.1년)이었다. 신생검은 24명(32$\%$)에서 시행되었다. 발병시 임상 양상과 검사 결과를 조사하였으며, 대상 환자들의 RAS 유전자의 다형성(ACE 유전자의 I/D 다형성, AGT 유전자의 M235T 다형성, AGTR 유전자의 A1166C 다형성)에 대해 검사하였다. 발병시와 마지막 추적관찰시 임상 상태는 다음과 같이 4군으로 분류하였다: A, 정상; B, 정도의 소변이상; C, 활동성 신질환(신증후군 범위의 단백뇨) 또는 고혈압 소견을 보이면서 혈청 크레아티닌 1.5 mg/dL 이하; D, 신부전. 결 과 : 발병시 환자들의 임상 상태는 26명(35$\%$)이 B, 45명(51$\%$)이 C였고 D가 3명(4$\%$)이었다. RAS 유전자 다형성의 분포는 100명의 건강한 대조군과 다르지 않았다. 마지막 추적관찰시 환자들의 임상 상태는 A가 23명(31$\%$), B가 38명(50$\%$), C가 9명(12$\%$), D가 5명(7$\%$)이었다. Multiple logistic regression 결과 발병 연령과 발병시 단백뇨의 양이 유의한 예후 인자로 확인되었다. RAS 유전자는 HSPN의 예후 인자로 통계학적 유의성이 없었다. 결 론 : 본 연구에서는 발병 연령이 높을수록, 발병시 단백뇨의 양이 많을수록 소아 HSPN의 예후가 나쁜 것으로 나타났고 RAS 유전자는 HSPN의 예후와 상관 관계가 없었다. 더 정확한 연구를 위해서는 더 많은 수의 환자를 대상으로 전향적인 연구가 필요하리라 생각한다.

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고혈압 청소년의 심혈관계 위험요소로서 Angiotensinogen M235T 유전자 다형 (Angiotensinogen gene M235T polymorphism as a predictor of cardiovascular risk in hypertensive adolescents)

  • 길주현;이정아;박은영;홍영미
    • Clinical and Experimental Pediatrics
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    • 제52권1호
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    • pp.36-43
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    • 2009
  • 목 적 : 레닌-안지오텐신계가 혈압 조절에 있어서 핵심적인 역할을 한다는 것은 이미 잘 알려진 사실이며, 이 체계의 한 구성 요소인 angiotensinogen을 암호화하는 유전자가 고혈압의 유전적 감수성을 결정하고 심혈관계 합병증 발생에 중요한 역할을 할 것으로 생각된다. 본 연구의 목적은 고혈압 청소년에서 angiotensinogen 유전자 다형을 분석하고, 특정 유전자형이 심혈관계 합병증의 예측 인자가 될 수 있는지를 알아보고자 하였다. 방 법 : 16세에서 17세 사이의 수축기 혈압 140 mmHg 이상이거나 이완기 혈압 90 mmHg 이상인 40명의 고혈압 청소년과 57명의 정상 청소년을 대상으로 하였다. 비만도, 체질량지수를 측정하였고, 안정된 상태에서 수축기, 이완기 혈압을 측정하였다. 호모시스테인, 인슐린, 레닌, 알도스테론, 안지오텐신 전환 효소(angiotensin convering enzyme, ACE)를 측정하였고, polymerase chain reaction (PCR)을 이용하여 angiotensinogen (M235T) 유전자형을 분석하였다. 경부 초음파로 경동맥 내중막 두께와 경동맥 직경을 측정하였고, 이를 이용하여 경동맥의 유순도와 신전도를 구하였다. VP-1000을 이용하여 pulse wave velocity (PWV)와 ankle-brachial index (ABI)를 측정하였다. 유전자 다형별로 각 계측치를 비교, 분석하였다. 결 과 : Angiotensinogen 유전자 다형 분석에서 T/T 군 25명(62.5%), M/T 군 14명(35%), M/M 군 1명(2.5%)로 정상 청소년과 유의한 빈도의 차이가 없었다. 고혈압군에서 인슐린, 레닌, 체질량지수, 비만도에서 세 유전형군 간의 유의한 차이가 나타났으나, 경동맥 내중막 두께와 직경, 신전도, 유순도, PWV, ABI에서는 세군 간의 유의한 차이는 없었다. 결 론 : Angiotensinogen의 특정 유전자 다형과 심혈관계 합병증간의 유의한 연관성은 없었으나, 본 연구의 고혈압 청소년 대상이 적었으므로 더 많은 연구가 필요할 것으로 생각된다.

Rimmed vacuole을 가진 원위부 근육병증의 전체 엑솜 서열분석을 이용한 유전적 원인 규명 (Distal Myopathy with Rimmed Vacuoles Confirmed by Whole Exome Sequencing)

  • 서승돈;박형준;송현석;김혜진;박진모;홍영빈;정기화;최병옥
    • 생명과학회지
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    • 제24권3호
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    • pp.311-317
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    • 2014
  • Rimed vacuole을 가진 원위 근육병(distal myopathy with rimmed vacuoles, DMRV)은 제2형 유전성 봉입체 근육병으로도 불리며 초기 성인기에 발병하여 원위부의 근력약화를 보이는 임상양상과 rimmed vacuole의 근육병리소견을 특징으로 하는 상염색체 열성의 근육병이다. 이러한 DMRV의 원인은 UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) 유전자의 돌연변이임이 밝혀져 있다. 저자들은 원위부 근력약화를 호소하는 환자에서 전체 엑솜 염기서열분석을 이용하여 GNE 유전자의 복합 이형접합성 돌연변이(p.Asp176Val 및 p.Val572Leu)를 확인하여 DMRV를 진단할 수 있었다. 본 연구는 근육병의 정확한 분자진단에 있어서 전체 엑솜 염기서열분석의 유용성을 보여주었기에 이를 보고하는 바이다.