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KIM, JUNG O,JEON, YOUNG JOO,KIM, OK JOON,OH, SEUNG HUN,KIM, HYUN SOOK,SHIN, BYOUNG SOO,OH, DOYEUN,KIM, EO JIN,CHO, YUN KYUNG,KIM, NAM KEUN SPANDIDOS PUBLICATIONS 2014 MOLECULAR MEDICINE REPORTS Vol.9 No.6
<P>Silent brain infarction (SBI) is an asymptomatic cerebrovascular disorder. The aim of the present study was to investigate the association between adrenoceptor-α2 (ADRA2) gene polymorphisms and SBI. A total of 361 patients with SBI and 467 healthy control subjects were examined. The polymerase chain reaction was performed to genotype the ADRA2A 1780G>A, ADRA2B 301-303 insertion/deletion (I/D) and ADRA2C 322-325I/D polymorphisms. The frequency of the ADRA2C 322-325I/D polymorphism was significantly different between patients with SBI and control subjects. When interaction analyses were performed for vascular risk factors, the ADRA2C 322-325ID genotype increased the risk for SBI in the presence of hypertension and elevated plasma homocysteine levels. The ADRA2C 322-325ID genotype and plasma homocysteine levels showed a significant synergistic effect for SBI. In addition, the ADRA2A 1780AA genotype was associated with elevated plasma homocysteine levels. Although further analysis of the association between ADRA2 polymorphisms and clinical risk factors of SBI is required, the present study of a limited set of SBI risk factors with ADRA2 polymorphisms provides the first evidence of the involvement of ADRA2 gene family members in the development of SBI. Further studies using larger and more heterogeneous populations are required to validate the association of ADRA2 polymorphisms with SBI.</P>
Structure of the ArgRS–GlnRS–AIMP1 complex and its implications for mammalian translation
Fu, Yaoyao,Kim, Youngran,Jin, Kyeong Sik,Kim, Hyun Sook,Kim, Jong Hyun,Wang, DongMing,Park, Minyoung,Jo, Chang Hwa,Kwon, Nam Hoon,Kim, Doyeun,Kim, Myung Hee,Jeon, Young Ho,Hwang, Kwang Yeon,Kim, Sungh National Academy of Sciences 2014 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF Vol.111 No.42
<P><B>Significance</B></P><P>In higher eukaryotes, aminoacyl-tRNA synthetases (ARSs) are assembled to form a multisynthetase complex (MSC), which plays critical roles in translation and nontranslation functions essential for cell growth and survival of organisms. The MSC complex is comprised of nine different ARSs and three accessary proteins. The crystal structure of the arginyl-tRNA synthetase (ArgRS)–glutaminyl-tRNA synthase–aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 (AIMP1) subcomplex reveals that the N-terminal domains of ArgRS and AIMP1 form an extended coiled-coil structure, which provides a central depot for the assembly of a ternary complex. The stability of the N-terminal helix of ArgRS is critical for its ARS activity and noncanonical function of the subcomplex, explaining the significance of the MSC structure in translation and cellular functions.</P><P>In higher eukaryotes, one of the two arginyl-tRNA synthetases (ArgRSs) has evolved to have an extended N-terminal domain that plays a crucial role in protein synthesis and cell growth and in integration into the multisynthetase complex (MSC). Here, we report a crystal structure of the MSC subcomplex comprising ArgRS, glutaminyl-tRNA synthetase (GlnRS), and the auxiliary factor aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 (AIMP1)/p43. In this complex, the N-terminal domain of ArgRS forms a long coiled-coil structure with the N-terminal helix of AIMP1 and anchors the C-terminal core of GlnRS, thereby playing a central role in assembly of the three components. Mutation of AIMP1 destabilized the N-terminal helix of ArgRS and abrogated its catalytic activity. Mutation of the N-terminal helix of ArgRS liberated GlnRS, which is known to control cell death. This ternary complex was further anchored to AIMP2/p38 through interaction with AIMP1. These findings demonstrate the importance of interactions between the N-terminal domains of ArgRS and AIMP1 for the catalytic and noncatalytic activities of ArgRS and for the assembly of the higher-order MSC protein complex.</P>
Genetic Polymorphism of Thymidylate Synthase Enhancer Region (TSER) in Korean
( Jin Kyoung Kim ),( Doyeun Oh ),( Sung Hoon Cho ),( Ok Jun Kim ),( Yun Kyung Cho ),( Sun Hee Kim ),( You Jung Kang ),( Jung Yong Ahn ),( Seong Gyu Hwang ),( Kwang Yul Cha ),( Nam Keun Kim ) 한국유전학회 2003 Genes & Genomics Vol.25 No.4
Kim, In Jai,Bae, Jeehyeon,Lim, Sang Wook,Cha, Dong Hoon,Cho, Hyo Jin,Kim, Sun,Yang, Dong Ho,Hwang, Seong Gyu,Oh, Doyeun,Kim, Nam Keun Pergamon Press 2007 Thrombosis research Vol.119 No.5
<P><B>Abstract</B></P><P><B>Introduction</B></P><P>Endothelium-derived nitric oxide (NO) is synthesized from <SMALL>L</SMALL>-arginine by endothelial nitric oxide synthase (eNOS) encoded by the eNOS3 gene on chromosome 7. The effects of the eNOS polymorphisms with the risk of coronary artery disease are conflicting. In this study, we investigated the association of the eNOS genotypes with coronary artery disease in Koreans.</P><P><B>Materials and methods</B></P><P>A case-control study was performed to evaluate the association between the eNOS −786T>C, 4a4b, or 894G>T polymorphism and coronary artery disease. 147 consecutive patients with coronary artery disease and 222 healthy controls were recruited. The genotypes of eNOS −786T>C and 894G>T polymorphisms were determined by the polymerase chain reaction-restriction fragment length polymorphism analysis. The genotypes of a 27?bp insertion/deletion in intron 4 (eNOS 4a4b) were determined by the banding pattern on gel electrophoresis.</P><P><B>Results</B></P><P>The eNOS −786T>C (odds ratio [OR]; 1.61, 95% confidence interval [CI]; 0.97–2.69), 894G>T (OR; 1.12, 95% CI; 0.65–1.92) and 4a4b (OR; 1.44, 95% CI; 0.87–2.39) polymorphisms were not an independent predisposition factor to coronary artery disease. However, a subgroup analysis adjusted with various cardiovascular risk factors confirmed positive association of the −786T>C polymorphism in CAD patients with hypertension and a smoking history and also a significant association of the intron 4 genotypes with a smoking history, but no significance has been found in the eNOS polymorphisms of 894G>T upon any risk adjustment. In this study we also found that the distribution of heterozygotes (−786TC, 894GT, and 4a4b) and variant homozygotes for the −786C, 894T, and intron 4a alleles of eNOS in Koreans were significantly lower than in Caucasian populations.</P><P><B>Conclusions</B></P><P>The present study demonstrates that polymorphisms of the eNOS −786T>C and 4a4b are associated with coronary artery disease with adjustments for cardiovascular risk factors in the Koreans.</P>
Kim, Ok Joon,Kim, Un-Kyung,Oh, Seung Hun,Cho, Yong Wook,Oh, Kyung Im,Oh, Doyeun,Park, Young Seok,Kim, Nam Keun D. A. Spandidos 2010 MOLECULAR MEDICINE REPORTS Vol.3 No.3
<P>Polymorphisms of the endothelial nitric oxide synthase (eNOS) gene have been implicated in various diseases associated with cardiovascular risk factors, but little is known regarding the risks of ischemic stroke (IS) in patients with diabetes mellitus (DM). In this study, we evaluated the genotypes and haplotypes of three eNOS polymorphisms (-786T>C, 4a4b and 894G>T) in a Korean population of 223 IS patients and 206 controls classified into four groups: healthy subjects, type 2 DM patients without IS, IS patients without type 2 DM and IS patients with type 2 DM. The genotype frequency of 4a4b in the controls with type 2 DM differed significantly from that in the controls without DM (4b4b vs. 4a4b; OR=2.769; 95% CI 1.233-6.220) and the frequency of the -786C-4a-894G haplotype was higher in the controls with DM compared to the controls without DM (P=0.040). Additionally, the -786C-4b-894G haplotype was more common in the cases with DM than in the controls without type 2 DM (P=0.034). Our findings suggest that the eNOS 4a allele-associated genotype and haplotype is a risk factor for type 2 DM, and that the -786C-4b-894G haplotype is a risk factor for IS with DM.</P>
Kim, Jong Woo,Park, Hye Mi,Choi, Young-Kook,Chong, So Young,Oh, Doyeun,Kim, Nam Keun National Hellenic Research Foundation 2011 ONCOLOGY REPORTS Vol.25 No.1
<P>Aberrant methylation of promoter regions associated with gene silencing is one of the major mechanisms underlying the inactivation of tumor suppressor genes in carcinogenesis. Previous studies have proposed that methylated DNA from tumor cells is released into the circulation and might be widely used as a marker for non-invasive tumor detection. Catalytic activities of folate metabolism-related enzymes and adequate synthesis of methyl donors are important elements for the cellular methylation reaction. In the present study, we sought to determine the following: i) genotype frequencies of MTHFR and MTR involved in folate metabolism in cases and cancer-free controls; and ii) the methylation status of three candidate genes (p16INK4A, p73 and hMLH1) in plasma related to the folate and homocysteine levels. From genotype frequency analysis, individuals homozygous for the MTHFR 677TT genotype had a significantly reduced risk of developing colorectal cancer compared with those harboring the MTHFR 677CC genotype (OR, 0.206; 95% CI, 0.070-0.604; P=0.005), and had a lower plasma folate concentration than those with the MTHFR 677CC+CT genotype (P<0.05). Using methylation-specific PCR, p73 was shown to be more frequently methylated in the high folate group [50% (8 of 16)] than in the medium [16.7% (3 of 18)] or low folate subgroups [11.1% (2 of 18)]. In conclusion, subjects with the variant MTHFR 677TT genotype appeared to have a significantly lower risk for colorectal cancer than those with the MTHFR 677CC genotype, and the methylation status of circulating p73 genomic DNA was substantially altered by the plasma folate level.</P>
Methylenetetrahydrofolate Reductase Gene Polymorphisms in Patients with Down Syndrome
Kim, Nam Keun,Han, Jin Hee,Oh, Doyeun,Hwang, Seong Gyu,Chae, Kyu Young,Kim, Hyo Jin,Kim, Sehyun,Hwang, Tae Sun,Jeung, Mingull 한국유전학회 2004 Genes & Genomics Vol.26 No.4
We analyzed C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase (MTHFR) by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 33 patients with Down syndrome and 100 healthy control subjects in order to understand the association between mutations of genes involved in folate metabolism and increased risk of being a child with Down syndrome. The association is still unresolved because of contradictory findings of various studies. In the patients with Down syndrome, the 677CC genotype frequency was 27.3%, 677CT 66.7%, and 677TT 6.1%. In the control group, the 677CC genotype frequency was 24.0%, 677CT 55.0%, and 677TT 21.0%. The frequency of 677TT homozygote in the patient group was 6.1% as compared to 21.0% in the control group. The homozygote showed an odds ratio of 0.14 (95% CI: 0.02-0.95; P = 0.04). In the patients with Down syndrome, the 1298AA genotype was found in 50.0%, the 1298AC in 46.9%, and the 1298CC in 3.1%. In the control, the 1298AA genotype frequency was estimated at 77.0%, the 1298AC at 21.0%, and the 1298CC at 2.0%. The frequency of 1298AC heterozygote was 46.9% in the patients whereas it was 21.0% in the control. The heterozygote showed an odds ratio of 3.3 (95% CI: 1.39-7.82; P= 0.007). Thus, an high prevalence of the MTHFR 677TT genotype in controls or a quite high frequency of the 1298AC genotype in the patients may provide an evidence for the presence of a differential survival advantage.
건강한 한국인에서 5,10-Methylenetetrahydrofolate Reductase(MTHFR C677T와 A1298C)유전자 돌연변이 연구
김남근,강금덕,김한집,김선희,남윤성,이수만,정형민,강석호,안정용,최병옥,황성규,오도연 한국유전학회 2002 Genes & Genomics Vol.24 No.2
Genetic mutation in the MTHFR gene (C677T and A1298C) have been shown to result in reduced MTHFR activity. Elevated plasma homocysteine levels can result from defective remethylation of methylenetetrahydrofolate reductase (MTHFR). Hyperhomocysteinemia has recently been known to be an important risk factor for cerebrovascular disease. We have studied the genotype frequencies of MTHFR (C677T and A1298C) gene in 254 healthy Korean subjects without vascular diseases and cancers, aged 20 to 90 years. The frequency of subjects homozygous for the 67TTT genotype was 13.4%, and that of those homozygous for the 1298CC genotype was 2.0%. The frequency of individuals heterozygous for both mutations (677CT/1298AC genotype) was 11.9%. The highest and lowest frequency of combined MTHFR genotype was 677CT/1298AA (39.1%) and 677CC/1298CC (1.6%), respectively. Moreover, no individuals had the three combined genotypes such as 677CT/1298CC, 677TT/1298AC and 677TT/1298CC. The frequency of MTHFR 677T allele in Korean was 0.39, which is similar to Japanese (0.41), Chinese (0.40 and 0.41), higher than Caucasian (0.27∼0.37). The frequency of MTHFR 1298C allele in Korean was 0.12, which is the lowest among the populations such as Japanese (0.19), Chinese (0.17 and 0.19) and Caucasian (0.29∼0.36). And the frequency of combined normal genotype (677CC/1298AA) in Korean was 24.5%, which is higher than Japanese (15.2%), Chinese (16.4% and 18.7%) and Caucacian (10.8∼18.4%), but lower than that of South Africa (36.8%). The MTHFR C 6771 and A1298C mutation data should be useful for studying the differences of world populations, and significance of the vascular diseases as well as thrombotic disease.