Analysis of frontotemporal dementia, amyotrophic lateral sclerosis, and other dementia-related genes in 107 Korean patients with frontotemporal dementia

Kim, Eun-Joo,Kim, Young-Eun,Jang, Ja-Hyun,Cho, Eun-Hae,Na, Duk L.,Seo, Sang Won,Jung, Na-Yeon,Jeong, Jee H.,Kwon, Jay C.,Park, Kee Hyung,Park, Kyung Won,Lee, Jae-Hong,Roh, Jee Hoon,Kim, Hee-Jin,Yoon, Elsevier 2018 NEUROBIOLOGY OF AGING Vol.72 No.-

<P><B>Abstract</B></P> <P>To identify pathogenic variants in 107 Korean patients with sporadic frontotemporal dementia (FTD), 46 genes related to FTD, amyotrophic lateral sclerosis, and other dementias were screened by next-generation sequencing. Hexanucleotide repeats in <I>C9orf72</I> gene were also tested by repeat-primed polymerase chain reaction. Next-generation sequencing revealed one known pathogenic variant (c.708+1G>A) in the <I>GRN</I> gene in a patient with behavioral variant FTD (bvFTD). In addition, a novel in-frame deletion (c.2675_2683del) in the <I>CSF1R</I> gene was identified in a patient with bvFTD who had severe bifrontal atrophy with frontal subcortical white matter changes. Novel compound heterozygous variants in the <I>AARS2</I> gene, c.1040+1G>A and c.636G>A (p.Met212Ile), were found in a patient with bvFTD. Forty-six variants of uncertain significance were detected in other patients. None of the patients had expanded hexanucleotide repeats in <I>C9orf72</I>. These results show that pathogenic variants of known FTD genes are rare in Korean FTD patients but the <I>CSF1R</I> and <I>AARS2</I> genes should be screened for a genetic diagnosis of FTD or other dementias.</P>

Flavobacterium panacis sp. nov., isolated from rhizosphere of Panax ginseng

Kim, D. H.,Singh, P.,Farh, M. E.,Kim, Y. J.,Nguyen, N. L.,Lee, H. A.,Yang, D. C. Springer Science + Business Media 2016 Antonie van Leeuwenhoek Vol.109 No.9

<P>A novel bacterial strain, designated DCY106(T), was isolated from soil collected from the rhizosphere of ginseng (Panax ginseng), in Gochang, Republic of Korea. Strain DCY106(T) is Gram-negative, yellow-pigmented, non-flagellate, motile, non-spore-forming, rod-shaped, and strictly aerobic. The strain grows optimally at 25-30 degrees C and pH 6.5-7.5. Phylogenetically, strain DCY106(T) is closely related to Flavobacterium arsenitoxidans KCTC 22507(T) (98.41 %), followed by Flavobacterium cutihirudini LMG 26922(T) (97.67 %), Flavobacterium nitrogenifigens LMG 28694(T) (97.59 %), Flexibacter auranticus LMG 3987(T) (97.38 %), Flavobacterium defluvi KCTC 12612(T) (97.21 %) and Flavobacterium chilense LMG 26360(T) (97.05 %). The 16S rRNA gene sequence similarities to all other Flavobacterium species were below97 %. The DNAG+C content of strain DCY106(T) is 34.2 mol% and the DNA-DNA relatedness between strain DCY106(T) and F. cutihirudini LMG 26922(T), F. auranticus LMG 3987(T), F. defluvi KCTC 12612(T) and F. chilense LMG 26360(T) were below 40.0 %. The menaquinone of the type MK-6 was found to be the predominant respiratory quinone. The major polar lipids were identified as phosphatidylethanolamine, phosphatidylserine, two unidentified aminolipids (APL1, APL6) and one unidentified lipid L2.C-15:0, iso-C-15:0 and summed feature 3 (iso-C-15:0 2OH/C-16:1 omega 7c) were identified as the major fatty acids present in DCY106(T). The results of physiological and biochemical tests allowed strain DCY106(T) to be differentiated phenotypically from other recognized species belonging to the genus Flavobacterium. Therefore, it is suggested that the newly isolated organism represents a novel species, for which the name Flavobacterium panacis sp. nov. is proposed with the type strain designated as DCY106(T) (= JCM 31468(T) = KCTC 42747(T)).</P>

Interaction of copper(II) with N-substituted bis(2-pyridylmethyl)amine derivatives

Kim, M.,Mora, C.,Lee, Y.H.,Clegg, J.K.,Lindoy, L.F.,Min, K.S.,Thuery, P.,Kim, Y. Elsevier 2010 Inorganic chemistry communications Vol.13 No.10

<P>Interaction of copper(II) with the N-substituted bis(2-pyridylmethyl)amine derivatives, (R)-N-1,N-1-bis (pyridine-2-ylmethyl)butane-1,2-diamine (L-1) and (R)-2-(bis(pyridin-2-ylmethyl)amino)butan-1-ol (L-2), has led to isolation of optically active [Cu(L-1)Cl]PF6 (1) and [Cu(L-2)Cl]ClO4 (2), respectively. The X-ray structures of (1) and (2) show that the copper is bound to all four heteroatoms of the respective ligands as well as to a chlorine atom in a distorted square pyramidal arrangement in which the three nitrogens of L-1 or L-2 occupy three positions of each basal plane while the fourth position is occupied by the chloro ligand; apical sites in each case are filled by the amine donor from the NH2-substituted butane arm in L-1 or the (protonated) alcohol oxygen of the 2-aminobutane-1-ol substituent in L-2. To a first approximation the coordination geometry in 2 is distorted square pyramidal; however, the remaining (axial) site on each copper centre is involved in a long contact (2.96 angstrom) with a bound chloro ligand from an adjacent complex which connects individual complex units in a zigzag 1-D polymeric chain, so that the coordination geometry could also be seen as pseudo-octahedral. A temperature-dependent magnetic study revealed the presence of ferromagnetic exchange coupling between copper centres in the chain reflecting the orthogonal structure between the chloro-bridged copper(II) ions; in contrast, and as expected, the discrete complex 1 is magnetically dilute. (C) 2010 Elsevier B.V. All rights reserved.</P>

국내 분리 일본뇌염 바이러스 유전자에 대한 항체생성 연구(Ⅰ) : cloning of JEV viral genes

박찬,최우영,이호동,채수림,신은진,김인범,표재환,박근용,조해월 국립보건연구원 1999 국립보건원보 Vol.36 No.-

韓國內에서 日本腦炎 媒介體 驅除를 위한 Malathion 超粒立子空中살포 試驗

Lofgren, C.S.,Self, L.S.,金慶浩,Chow, C.Y. 國立保健硏究院 1971 국립보건연구원보 Vol.8 No.-

Bioconversion of ginsenosides Rb₁, Rb₂, Rc and Rd by novel β-glucosidase hydrolyzing outer 3-O glycoside from Sphingomonas sp. 2F2: Cloning, expression, and enzyme characterization

Wang, L.,Liu, Q.M.,Sung, B.H.,An, D.S.,Lee, H.G.,Kim, S.G.,Kim, S.C.,Lee, S.T.,Im, W.T. Elsevier Science Publishers 2011 Journal of biotechnology Vol.156 No.2

A new β-glucosidase gene (bglSp) was cloned from the ginsenoside converting Sphingomonas sp. strain 2F2 isolated from the ginseng cultivating filed. The bglSp consisted of 1344bp (447 amino acid residues) with a predicted molecular mass of 49,399Da. A BLAST search using the bglSp sequence revealed significant homology to that of glycoside hydrolase superfamily 1. This enzyme was overexpressed in Escherichia coli BL21 (DE3) using a pET21-MBP (TEV) vector system. Overexpressed recombinant enzymes which could convert the ginsenosides Rb<SUB>1</SUB>, Rb<SUB>2</SUB>, Rc and Rd to the more pharmacological active rare ginsenosides gypenoside XVII, ginsenoside C-O, ginsenoside C-Mc<SUB>1</SUB> and ginsenoside F<SUB>2</SUB>, respectively, were purified by two steps with Amylose-affinity and DEAE-Cellulose chromatography and characterized. The kinetic parameters for β-glucosidase showed the apparent K<SUB>m</SUB> and V<SUB>max</SUB> values of 2.9+/-0.3mM and 515.4+/-38.3μmolmin<SUP>-1</SUP>mg of protein<SUP>-1</SUP> against p-nitrophenyl-β-d-glucopyranoside. The enzyme could hydrolyze the outer C3 glucose moieties of ginsenosides Rb<SUB>1</SUB>, Rb<SUB>2</SUB>, Rc and Rd into the rare ginsenosides Gyp XVII, C-O, C-Mc<SUB>1</SUB> and F<SUB>2</SUB> quickly at optimal conditions of pH 5.0 and 37<SUP>o</SUP>C. A little ginsenoside F<SUB>2</SUB> production from ginsenosides Gyp XVII, C-O, and C-Mc<SUB>1</SUB> was observed for the lengthy enzyme reaction caused by the side ability of the enzyme.

Activated T Cells Secrete an Alternatively Spliced Form of Common γ-Chain that Inhibits Cytokine Signaling and Exacerbates Inflammation

Hong, C.,Luckey, Megan A.,Ligons, Davinna L.,Waickman, Adam T.,Park, J.Y.,Kim, Grace Y.,Keller, Hilary R.,Etzensperger, R.,Tai, X.,Lazarevic, V.,Feigenbaum, L.,Catalfamo, M.,Walsh, Scott T.R.,Park, J. Cell Press 2014 Immunity Vol.40 No.6

The common γ-chain (γc) plays a central role in signaling by IL-2 and other γc-dependent cytokines. Here we report that activated T cells produce an alternatively spliced form of γc mRNA that results in protein expression and secretion of the γc extracellular domain. The soluble form of γc (sγc) is present in serum and directly binds to IL-2Rβ and IL-7Rα proteins on T cells to inhibit cytokine signaling and promote inflammation. sγc suppressed IL-7 signaling to impair naive T cell survival during homeostasis and exacerbated Th17-cell-mediated inflammation by inhibiting IL-2 signaling upon T cell activation. Reciprocally, the severity of Th17-cell-mediated inflammatory diseases was markedly diminished in mice lacking sγc. Thus, sγc expression is a naturally occurring immunomodulator that regulates γc cytokine signaling and controls T cell activation and differentiation.

Fate and fouling characteristics of fluorescent dissolved organic matter in ultrafiltration of terrestrial humic substances

Quang, V.L.,Kim, H.C.,Maqbool, T.,Hur, J. Pergamon Press 2016 CHEMOSPHERE - Vol.165 No.-

Ultrafiltration (UF) membrane fouling caused by terrestrial input of dissolved organic matter (DOM), especially during high flood periods, is poorly understood. In this study, we examined the fouling characteristics of three different terrestrial humic substances (HS) on regenerated cellulose (RC) UF membranes with the pore sizes of 30 k-3 kDa via conventional bulk HS measurements as well as an advanced fluorescence spectroscopy. The fluorescence excitation-emission matrix coupled with parallel factor analysis (EEM-PARAFAC) identified one protein-like (C1) and three humic-like fluorescent components (C2-C4) from soil and leaf-derived HS. The fate of the different fluorescent components was individually tracked for the UF processes. The higher removal rates were found generally on the order of high molecular weight (HMW) C1 to smaller sized humic-like components (C4 > C3 > C2) regardless of the HS sources, implying the importance of HS molecular sizes on the UF operation. Among the humic-like components, C2 was the most associated with irreversible fouling, while other two humic-like components contributed more to reversible fouling. For soil-derived HS, C4 can be suggested as a good surrogate for membrane fouling, as evidenced by the highest correlation between the removal rates and the total fouling indices among the tested HS variables including conventional bulk parameters. Our study demonstrated a promising application of EEM-PARAFAC for probing membrane fouling of terrestrial DOM, which provided additional insight into the fate of different fluorescent components on the UF processes.

Role for Volatile Branched - Chain and Other Fatty Acids in Species - Related Red Meat Flavors

김정옥(Jeong-Ok Kim),하영래(Yeong L. Ha),Robert. C. Lindsay(Robert C. Lindsay) 한국식품영양과학회 1993 한국식품영양과학회지 Vol.22 No.3

2-Methylbutanoic, 3-methylbutanoic, 4-methylpentanoic, 2-ethylhexanoic, 4-methylhexanoic, 4-methyloctanoic, 6-methyloctanoic, 4-ethyloctanoic, 4-methylnonanoic 및 2-ethyldecanoic acids를 포함하는 다수의 volatile branched-chain fatty acids(VBCFAs)가 쇠고기, 돼지고기, 염소고기(미국산 흰염소고기, 한국산 흑염소고기), 양고기로부터 분리, 동정되었다. 쇠고기 향은 amino acid, carbohydrate, 그리고 lipid의 반응에 의해 생성된 향기성분에 의해 이루어지는 기본 meaty flavor로 결정되어 지는 반면, 염소고기나 양고기의 경우는 쇠고기의 기본향에 4-ethyloctanoic acid와 4-methyloctanoic acid의 독특한 노린내가 더해지므로서 염소고기나 양고기 특유의 향을 내었다. 돼지고기는 3-methylbutanoic acid함량이 다른 세종류에 비해 높고 3-methylbutanoic acid 특유의 꼬린냄새는 돼지고기의 기름층으로부터 나는 unclean flavor에 중요한 영향을 미치는 것으로 생각된다. 염소고기는 C5-C7 chain length의 volatile branched 및 n-chain fatty acids를 적게 함유하고 있는반면 4-ethyloctanoic acid는 염소고기의 노린내를 내는 결정적인 화합물이었다. 4-Methyloctanoic acid는 양고기의 sweaty-muttony flavor를 내는 중요한 화합물이었으며 염소고기와는 달리 C5, C6, 그리고 C7 branched-chain fatty acids도 상당량 함유되어있었다. 한국산 흑염소고기와 미국산 흰염소고기 중에 들어있는 VBCFAs의 종류는 같으나, 한국산 흑염소고기가 미국산 흰염소고기 보다 노린내가 강하며 4-ethyloctanoic acid의 함량도 높았다. Species-related meat flavors were investigated for red meats (bovine, porcine, caprine, and ovine). Volatile branched-chain fatty acids (VBCFAs) including 2-methylbutanoic, 3-methylbutanoic, 4-methylpentanoic, 2-ethylhexanoic, 4-methylhexanoic, 4-methyloctanoic, 6-methyloctanoic, 4-ethyloctanoic, 4-methylnonanoic, and 2-ethyldecanoic acids were identified in the meats from cow(bovine), pig(porcine), goats(caprine ; American white goat and Korean black goat), and lamb (ovine). Beef flavor of bovine meat was characterized by the basic meaty flavor, lacking in goaty and muttony flavor impacts due to low or absent in 4-methy-loctanoic and 4-ethyloctanoic acids. Porcine meat contained the least number of VBCFAs among sample species tested, and 3-methylbutanoic acid contributed to the unclean sweaty odor of pork. Caprine meat from Korean black and American white goats lacked in short VBCFAs(C5, C6, and C7) and contained 4-methyloctanoic and 4-ethyloctanoic acids contributing to the characteristic goaty flavor of caprine meat. Caprine meat flavor was distinctively characterized by 4-ethyloctanoic acid, while 4-methyloctanoic acid provides sweaty-muttony flavor to ovine meat. Although kinds of VBCFAs are same in two different varieties of caprine meats, meat sample from Korean black goat had stronger goaty odor and contained higher concentration of 4-ethyloctanoic acid than the meat sample from American white goat did.

Interleukin-18, transforming growth factor-β, and vascular endothelial growth factor gene polymorphisms and susceptibility to primary glomerulonephritis

Choi, H.-J.,Cho, J.-H.,Kim, J.-C.,Seo, H.-J.,Hyun, S.-H.,Kim, G.-H.,Choi, J.-Y.,Choi, H.-J.,Ryu, H.-M.,Cho, J.-H.,Park, S.-H.,Kim, Y.-L.,Han, S.,Kim, C.-D. Blackwell Publishing Ltd 2010 Tissue antigens Vol.76 No.4

<P>Several studies have showed an association of gene polymorphisms with the development of glomerulonephritis (GN). We investigated the effects of gene polymorphisms on the development of GN by analyzing polymorphisms in the interleukin (IL)-18, transforming growth factor (TGF)-β, and vascular endothelial growth factor (VEGF) genes in Korean patients with primary GN. The study included 146 normal subjects (controls) and 100 patients diagnosed with primary GN by kidney biopsy. The gene polymorphisms A-607C and G-137C in <I>IL-18</I>, C-509T and T869C in <I>TGF-</I>β<I>1</I>, and C-2578A and C405G in <I>VEGF</I> were investigated in DNA extracted from peripheral blood. Significant differences were observed between the GN and control groups in the genotype and allele frequencies of A-607C <I>IL-18</I> and C405G <I>VEGF</I>. The frequencies of the <I>IL-18</I>−607CC genotype [<I>P</I> = 0.001, odds ratio (OR) = 2.473] and the <I>VEGF</I> 405GG genotype (<I>P</I> = 0.001, OR = 2.473) were significantly increased in the GN group. The combination of <I>IL-18</I>−607CC+ and <I>VEGF</I> 405GG+ genotypes had a higher risk for developing GN in comparison with the combination of <I>IL-18</I>−607CC− and <I>VEGF</I> 405GG− genotypes (<I>P</I> < 0.001, OR = 8.642). In the haplotype analysis of the <I>IL-18</I> gene, the CG haplotype was significantly more frequent in the GN group than the control group (61.5% <I>vs</I> 46.9%, <I>P</I> = 0.002). These results show that the −607CC genotype of the <I>IL-18</I> gene and the 405GG genotype of the <I>VEGF</I> gene are associated with susceptibility to and the development of primary GN.</P>