한국인 좌심실 비대증 환자들에서 파브리병 선별검사의 의의

박형두,조성윤,이수연,전은석,박승우,이상훈,이상철,최진오,박성지,장성아,김형관,기창석,김종원,진동규,Park, Hyeong-Du,Jo, Seong-Yun,Lee, Su-Yeon,Jeon, Eun-Seok,Park, Seung-U,Lee, Sang-Hun,Lee, Sang-Cheol,Choe, Jin-O,Park, Seong-Ji,Jang, Seong-A,K 대한유전성대사질환학회 2014 대한유전성대사질환학회지 Vol.14 No.2

목적: 파브리병(Fabry disease)은 alpha-galactosidase A의 결핍으로 인하여 리소좀에 globotriaosylceramide(Gb3)가 축적되어 여러 장기에 이상을 일으키는 질병이다. 본 연구에서는 파브리병의 만성 합병증 중 심장 질환을 주로 보이는 환자들, 그 중에서도 좌심실 비대증을 보이는 한국인 환자들을 대상으로 파브리병의 빈도를 알아보고자 하였다. 방법: 좌심실비대증을 진단받은 환자 257명을 연구대상으로 선정하였고, 남성이 172명(평균 56세, 범위 30-81세), 여성이 84명(평균 66세, 범위 45-85세)이었다. 파브리병 선별을 위하여 고성능액체크로마토그래피-탠덤질량분석기를 이용하여 소변 Gb3 농도를 측정하였다. 확진은 형광분석법에 의한 말초혈액의 alpha-galactosidase A 활성도와 염기서열분석법에 의한 GLA 유전자 돌연변이 유무를 검사하여 이루어졌다. 결과: 소변 Gb3 검사에서 cutoff (25 ug/mmoL creatinine)를 초과하는 환자는 4명이었지만, 최종적으로 추가 검사를 통해 진단된 파브리병 환자는 여성 환자 한 명이었다(1/257명, 0.4%). 확진된 환자는 54.3 ug/mmoL creatinine의 Gb3 농도와 15.5 nmole/hr/mg protein (참고범위, $55.2{\pm}12.7nmole/hr/mg$ protein)의 alpha-galactosidase A 활성도를 보였다. GLA 유전자에서는 c.796G>A (p.D266N) 돌연변이가 이형접합체로 관찰되었다. 추가로 시행한 가족검사에서 환자의 딸은 아직 파브리병의 증상을 보이지 않았지만, 엄마와 같은 GLA 돌연변이(c.796G>A)를 가지고 있었으며, alpha-galactosidaseA 활성도는 42.5 nmole/hr/mg protein, 소변 Gb3 농도는 25.5 ug/mmoL creatinine을 나타냈다. 결론: 한국인 좌심실 비대증을 가진 환자들에서 파브리병의 유병율은 0.4%였다. 유병율이 낮아 보임에도 불구하고, 파브리병 진단 전 환자와 가족 구성원을 발견할 수 있는 장점 덕분에 선별검사의 의의가 있는 것으로 사료된다. Objectives: Fabry disease (FD) is a lysosomal storage disease caused by the inappropriate accumulation of globotriaosylceramide (Gb3) in tissues due to a deficiency in the enzyme ${\alpha}$-galactosidase A. Hypertrophic cardiomyopathy is one of the chronic complications of FD. We tried to evaluate the prevalence of Fabry disease in the Korean patients with left ventricular hypertrophy (LVH). Methods: A total of 257 patients with LVH were recruited and they were 172 males (mean 56 years, range 30-81 years) and 84 females (mean 66 years, range 45-85 years). Urinary Gb3 was used to screen FD by high performance liquid chromatography-tandem mass spectrometry. Confirmatory tests were done by alpha-galactosidaseA activity using fluorometric assay and by GLA mutation analysis using sequencing. Results: Four patients were screening positive by urinary Gb3 analysis (cutoff, 25 ug/mmol creatinine). But, one female patient was diagnosed with FD confirmed by enzyme analysis in leukocytes as well as by genetic analysis (1/257 patients, 0.4%). She showed 54.3 ug/mmoL creatinine of Gb3 and 15.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alphagalactosidase A activity. And she had a heterozygous GLA mutation of c.796G>A (p.D266N). Her daughter was found to be a carrier for FD confirmed by GLA mutation analysis. Asymptomatic carrier showed 25.5ug/mmol creatinine of Gb3 and 42.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alpha-galactosidase A activity. Conclusions: The prevalence of FD in Koran patients with LVH was detected as 0.4%. Although the prevalence seems to be low, screening studies are of great importance for detecting hidden cases as well as for identifying other effected family members.

THE UNAM-KIAS CATALOG OF ISOLATED GALAXIES

Herná,ndez-Toledo, H. M.,Vá,zquez-Mata, J. A.,Martí,nez-Vá,zquez, L. A.,Choi, Yun-Young,Park, Changbom American Institute of Physics 2010 The Astronomical journal Vol.139 No.6

<P>A new catalog of isolated galaxies from the Sloan Digital Sky Survey Data Release 5 (SDSS DR5) is presented. A total of 1520 isolated galaxies were found in 1.4 sr of sky. The selection criteria in this UNAM-KIAS catalog are a variation on the criteria developed by Karachentseva, including full redshift information. Through an image processing pipeline that takes advantage of the high-resolution (~0<img entity='farcs' SRC='http://ej.iop.org/icons/Entities/farcs.gif' ALT='farcs' ALIGN='BOTTOM' />4 pixel<SUP>–1</SUP>) and high dynamic range of the SDSS images, a uniform g-band morphological classification for all these galaxies is presented. We identify 80% (Sa-Sm) spirals (50% later than Sbc types) on one hand, and a scarce population of early-type E (6.5%) and S0 (8%) galaxies amounting to 14.5% on the other hand. This magnitude-limited catalog is ~80% complete at 16.5, 15.6, 15.2, 14.6, and 14.4 mag in the ugriz bands, respectively. Some representative physical properties including SDSS magnitudes and color distributions, color-color diagrams, absolute magnitude-color, and concentration-color diagrams as a function of morphological type are presented. The UNAM-KIAS Morphological Atlas is also released along with this paper. For each galaxy of a type later than Sa, a mosaic is presented that includes (1) a g-band logarithmic image, (2) a g-band filtered-enhanced image where a Gaussian kernel of various sizes was applied, and (3) a red giant branch color image from the SDSS database. For E/S0/Sa galaxies, in addition to the images in (1), (2), and (3), plots of r-band surface brightness and geometric profiles (ellipticity ε, position angle PA, and A<SUB>4</SUB>/B<SUB>4</SUB> coefficients of the Fourier series expansions of deviations of a pure ellipse) are provided. The size of the sample, the redshift completeness, the availability of high-quality multicolor photometric data and detailed morphological and spectroscopic information make the UNAM-KIAS catalog of isolated galaxies a suitable sample to address important issues such as (1) comparative studies of environmental effects, (2) constraining the currently competing scenarios of galaxy formation and evolution, (3) the nature and evolution of elliptical and spiral galaxies in the field, (4) the spectral properties of a statistically significant number of isolated galaxies and their evolution as a function of redshift, and (5) the fraction of active galactic nuclei in isolated environments, among other important topics. The optimization and estimation of new structural parameters as well as important information to complement existing ones in other wavelengths is being carried out.</P>

소화기 ; 대전 지역에서 급성 A형 간염의 유전자형에 따른 임상 특성 고찰

이영우 ( Young Woo Lee ),양현웅 ( Hyeon Woong Yang ),이진아 ( Jin A Lee ),윤기호 ( Ki Ho Yun ),양성은 ( Seong Eun Yang ),이민지 ( Min Ji Lee ),박세영 ( Se Young Park ),김새희 ( Sae Hee Kim ),이향이 ( Hyang Ie Lee ),이윤정 ( Yun Ju 대한내과학회 2011 대한내과학회지 Vol.80 No.5

목적: B형 간염이나 C형 간염 등은 유전자형에 따른 차이가 알려져 있지만, 국내에서 증가하는 IIIA 유전자형과 기존의 IA 유전자형에 의한 간염의 차이가 거의 알려진 바 없다. 따라서 대전 지역에서 발생한 급성 A형 간염의 유전자형에 따른 차이를 알고자 한다. 방법: 2009년 11월부터 2010년 6월까지 급성 A형 간염으로 진단되면서 유전자형이 확인된 81명의 환자를 대상으로 임상적 소견들과 검사실 소견들을 전향적으로 연구하였다. 결과: 평균 나이는 32.6±7.4세이며, 평균 입원 기간은 7.7±2.4일이었다. 직업은 서비스직, 사무직 그리고 교육직이 가장 많았다. 유전자형 간의 급성 간염에 따른 증상들의 종류는 별다른 차이가 없었다. 유전자형에 따른 증상의 빈도는 IIIA 유전자형에서 구토와 설사가, IA 유전자형에서는 복통과 피부 반점이 상대적으로 많았다. 검사실 소견에서는 IIIA 유전자형에서 헤모글로빈의 평균, CRP 평균, AST 최대 수치 평균은 상대적으로 유의하게 높았다. 그리고 AST와 ALT 및 총 빌리루빈 최대 수치들과 INR의 수치가 IIIA 유전자형에서 상대적으로 높게 분포하는 경향을 보였다. 결론: 대전 지역에서 유행하는 급성 A형 간염에서 IIIA 유전자형에 따른 급성 간염은 기존의 IA 유전자형과 차이가 있을 것으로 보이며, 다기관 연구를 통한 심도 깊은 연구가 필요하겠다. Background/Aims: Acute viral hepatitis A is a major health problem in Korea and the influx of genotype IIIA is thought to be one reason. We examined the differences in the clinical characteristics and laboratory findings of genotypes IA and IIIA in Daejeon. Methods: From November 2009 to June 2010, 81 patients positive for IgM anti-HAV were enrolled prospectively. The hepatitis A was genotyped using real-time polymerase chain reaction. The clinical characteristics and laboratory results were compared on the Results: The mean patient age was 32.6±7.4 years. The mean hospitalization was 7.7±2.4 days. The patient occupation varied. Clinically, vomiting and diarrhea were relatively more prevalent in genotype IIIA than in IA. Abdominal pain and skin spots were relatively more prevalent in genotype IA than in IIIA. The hemoglobin, peak aspartate aminotransferase (AST) level, and C-reactive protein were statistically higher in genotype IIIA than in IA. The distributions of the peak AST, alanine aminotransferase (ALT) and total bilirubin values tended to be perched in genotype IIIA than in IA. The international normalized ratio (INR) tended to be slightly prolonged in genotype IIIA than in IA. Conclusions: Recently, genotype IIIA of acute viral hepatitis A has become prevalent in Daejeon. Hepatitis A genotype IIIA probably causes worse laboratory abnormalities than genotype IA.

Suppressive Effect of Fermented Angelica tenuissima Root Extract against Photoaging: Possible Involvement of Hemeoxygenase-1

( Yun-a Park ),( Sung Ryul Lee ),( Jin Woo Lee ),( Hyun Jung Koo ),( Seon-a Jang ),( Seung-won Yun ),( Hyun Ju Kim ),( Jeong Suk Woo ),( Myung Rye Park ),( Se Chan Kang ),( Youn Kyu Kim ),( Eun-hwa So 한국미생물생명공학회(구 한국산업미생물학회) 2018 Journal of microbiology and biotechnology Vol.28 No.8

Angelica tenuissima root has historically been used as a traditional medicine in Korea. Previous studies have identified the anti-melanogenic effects of the extract of A. tenuissima root fermented by Aspergillus oryzae (FAT). This study investigated the protective effects of FAT against ultraviolet light B exposure (UVB; 30 mJ/㎠) in HaCaT (human keratinocyte) or Hs68 (human foreskin fibroblast) skin cells. FAT treatment was able to stimulate wound healing rate at the basal condition. FAT also favored the maintenance and/or improvement of extracellular matrix impairment caused by UVB irradiation through: 1) upregulation of procollagen Type-1 synthesis and secretion; 2) suppression of MMP-1 and elastase expression. FAT was able to play a role in the attenuation of inflammatory responses caused by UVB irradiation via upregulation of photo-protective hemeoxygease-1 and suppression of proinflammatory cyclooxygenase-2 expression. After further verification of the anti-photoaging potential of FAT, it could be utilized as an effective ingredient in anti-aging and anti-wrinkle cosmetics.

Oxidative lipid modification of nicastrin enhances amyloidogenic γ‐secretase activity in Alzheimer’s disease

Gwon, A‐,Ryeong,Park, Jong‐,Sung,Arumugam, Thiruma V.,Kwon, Yong‐,Kook,Chan, Sic L.,Kim, Seol‐,Hee,Baik, Sang‐,Ha,Yang, Sunghee,Yun, Young‐,Kwang,Choi, Yuri,Kim, Sa Blackwell Publishing Ltd 2012 AGING CELL Vol.11 No.4

<P><B>Summary</B></P><P>The cause of elevated level of amyloid β‐peptide (Aβ42) in common late‐onset sporadic [Alzheimer’s disease (AD)] has not been established. Here, we show that the membrane lipid peroxidation product 4‐hydroxynonenal (HNE) is associated with amyloid and neurodegenerative pathologies in AD and that it enhances γ‐secretase activity and Aβ42 production in neurons. The γ‐secretase substrate receptor, nicastrin, was found to be modified by HNE in cultured neurons and in brain specimens from patients with AD, in which HNE–nicastrin levels were found to be correlated with increased γ‐secretase activity and Aβ plaque burden. Furthermore, HNE modification of nicastrin enhanced its binding to the γ‐secretase substrate, amyloid precursor protein (APP) C99. In addition, the stimulation of γ‐secretase activity and Aβ42 production by HNE were blocked by an HNE‐scavenging histidine analog in a 3xTgAD mouse model of AD. These findings suggest a specific molecular mechanism by which oxidative stress increases Aβ42 production in AD and identify HNE as a novel therapeutic target upstream of the γ‐secretase cleavage of APP.</P>

침수식 초음파 검사와 부분결합간섭 검사를 이용한 공식의 정확성 비교

윤일석(Il Suk Yun),박아람(A ram Park),최신영(Shin Young Choi),양홍석(Hong Seok Yang) 대한안과학회 2016 대한안과학회지 Vol.57 No.6

목적: 침수성 초음파 장치와 수동 각막곡률계를 이용한 인공수정체 계산공식과 IOL MasterⓇ를 이용한 계산공식의 예측오차를 비교하여 안축장과 전방 깊이, 각막곡률에 따른 침수성 초음파 검사와 수동각막곡률계를 이용한 인공수정체 검사의 정확성에 대해 보고하고자 하였다. 대상과 방법: 단일 술자에 의해 백내장수술을 받은 환자 65명 82안의 의무기록을 후향적으로 검토하였다. 생체계측은 IOL MasterⓇ, 수동각막곡률계, 침수식 방식의 초음파 검사를 순서대로 시행하여 측정하였다. 초음파 방식과 수동각막곡률계로 구한 생체계측 값을 SRK-T, Holladay 1 공식에 대입하였고 IOL MasterⓇ를 이용한 생체계측 값을 장비에 내장되어 있는 SRK-T, Holladay 2 공식에 대입하여 백내장 수술 후 굴절력을 예측하였다. 백내장 수술 후 7주 이상 지난 시점에 현성 굴절 검사를 시행하여 최종 굴절력을 구하였고, 각 공식들의 예측치와 이를 비교하였다. 결과: 평균 안축장과 평균 각막곡률값은 계측기기 간에 의미 있는 차이를 보였다. 그러나 평균절대오차는 두 계측방식 간에, 그리고 공식들 간에 안축장과 전방 깊이, 각막곡률에 따라서 의미 있는 차이가 관찰되지 않았다. 그러나 안축장과 전방 깊이, 각막곡률에 따라서 예측오차가 ±0.5디옵터 이내에 속하는 백분율은 4가지 공식들 간에 차이를 보였다. 결론: 침수식 초음파와 수동 각막곡률계를 이용한 생체계측 방식은 IOL MasterⓇ 방식과 비교하여 그 정확성이 떨어지지 않는 것으로 보인다. 그러나 더 정확한 인공수정체의 선택을 위해서는 안축장, 전방 깊이, 각막곡률에 따라서 더 적절한 인공수정체 공식을 선택하는 것이 필요할 것으로 생각된다. <대한안과학회지 2016;57(6):905-916> Purpose: To report the accuracy of intraocular lens (IOL) formulas according to axial length, anterior chamber depth, and mean corneal curvature when performing biometry with an immersion type A-scan with mannual keratomery and an IOL Master??. Methods: Retrospective medical chart reviews were carried out for 82 eyes of 65 patients who underwent cataract surgery performed by a single surgeon. Biometry was performed using IOL Master??, mannual keratometry, and immersion type A-scan ultrasound in sequence. Prediction diopter was obtained using Sanders-Retzlaff-Kraff/Theoretical (SRK-T) and Holladay 1 formulas calculated with the biometric value measured by mannual keratomery and A-scan, and using SRK-T and, Holladay 2 formulas with IOL Master??. The final refractive outcome was determined as manifested refraction at least 7 weeks after the surgery, and it was compared with the preoperative prediction dipoter (D) of the IOL formulas. Results: Mean axial length and mean keratomtric measurements as determined by A-scan with mannual keratomery showed significant statistical differences from those of IOL Master??. However, there was no difference in postoperative mean absolute error between biometric measurements, or among formulas according to axial length, anterior chamber depth, or mean corneal curvature. However, the percentage of actual refraction within ±0.50 D of the intended refraction was dirrerent among the four formalas according to axial length, anterior chamber dept, mean corneal curvature. Conclusions: Biometry measurement using the immersion-type A-scan with mannual keratomery is as accurate as that using IOL Master?? for predicting the postoperative refractive state of cataract surgery. However, it is suggested that the best IOL formula be chosen according to axial length, anterior chamber depth, and mean corneal curvature. J Korean Ophthalmol Soc 2016;57(6):905-916

Gut-Specific Delivery of T-Helper 17 Cells Reduces Obesity and Insulin Resistance in Mice

Hong, C.P.,Park, A.,Yang, B.G.,Yun, C.H.,Kwak, M.J.,Lee, G.W.,Kim, J.H.,Jang, M.S.,Lee, E.J.,Jeun, E.J.,You, G.,Kim, K.S.,Choi, Y.,Park, J.H.,Hwang, D.,Im, S.H.,Kim, J.F.,Kim, Y.K.,Seoh, J.Y.,Surh, C. Elsevier North Holland [etc.] 2017 Gastroenterology Vol.152 No.8

<P>BACKGROUND & AIMS: Obesity and metabolic syndrome have been associated with alterations to the intestinal microbiota. However, few studies examined the effects of obesity on the intestinal immune system. We investigated changes in subsets of intestinal CD4(+) T-helper (T-H) cells with obesity and the effects of gut-tropic T(H)17 cells in mice on a high-fat diet (HFD). METHODS: We isolated immune cells from small intestine and adipose tissue of C57BL/6 mice fed a normal chow diet or a HFD for 10 weeks and analyzed the cells by flow cytometry. Mice fed a vitamin A-deficient HFD were compared with mice fed a vitamin A-sufficient HFD. Obese RAG1-deficient mice were given injections of only regulatory T cells or a combination of regulatory T cells and T(H)17 cells (wild type or deficient in integrin beta 7 subunit or interleukin 17 [IL17]). Mice were examined for weight gain, fat mass, fatty liver, glucose tolerance, and insulin resistance. Fecal samples were collected before and after T cell transfer and analyzed for microbiota composition by metagenomic DNA sequencing and quantitative polymerase chain reaction. RESULTS: Mice placed on a HFD became obese, which affected the distribution of small intestinal CD4(+) T-H cells. Intestinal tissues from obese mice had significant reductions in the proportion of T(H)17 cells but increased proportion of T(H)1 cells, compared with intestinal tissues from nonobese mice. Depletion of vitamin A in obese mice further reduced the proportion of T(H)17 cells in small intestine; this reduction correlated with more weight gain and worsening of glucose intolerance and insulin resistance. Adoptive transfer of in vitro-differentiated gut-tropic T(H)17 cells to obese mice reduced these metabolic defects, which required the integrin beta 7 subunit and IL17. Delivery of T(H)17 cells to intestines of mice led to expansion of commensal microbes associated with leanness. CONCLUSIONS: In mice, intestinal T(H)17 cells contribute to development of a microbiota that maintains metabolic homeostasis, via IL17. Gut-homing T(H)17 cells might be used to reduce metabolic disorders in obese individuals.</P>

Functional characterization of the SIZ/PIAS-type SUMO E3 ligases, OsSIZ1 and OsSIZ2 in rice

PARK, HYEONG CHEOL,KIM, HUN,KOO, SUNG CHEOL,PARK, HEE JIN,CHEONG, MI SUN,HONG, HYEWON,BAEK, DONGWON,CHUNG, WOO SIK,KIM, DOH HOON,BRESSAN, RAY A.,LEE, SANG YEOL,BOHNERT, HANS J.,YUN, DAE-JIN Blackwell Publishing Ltd 2010 Plant, cell and environment Vol.33 No.11

<P>ABSTRACT</P><P>Sumoylation is a post-translational regulatory process in diverse cellular processes in eukaryotes, involving conjugation/deconjugation of small ubiquitin-like modifier (SUMO) proteins to other proteins thus modifying their function. The PIAS [protein inhibitor of activated signal transducers and activators of transcription (STAT)] and SAP (scaffold attachment factor A/B/acinus/PIAS)/MIZ (SIZ) proteins exhibit SUMO E3-ligase activity that facilitates the conjugation of SUMO proteins to target substrates. Here, we report the isolation and molecular characterization of <I>Oryza sativa</I> SIZ1 (OsSIZ1) and SIZ2 (OsSIZ2), rice homologs of <I>Arabidopsis</I> SIZ1. The rice SIZ proteins are localized to the nucleus and showed sumoylation activities in a tobacco system. Our analysis showed increased amounts of SUMO conjugates associated with environmental stresses such as high and low temperature, NaCl and abscisic acid (ABA) in rice plants. The expression of <I>OsSIZ1</I> and <I>OsSIZ2</I> in <I>siz1-2 Arabidopsis</I> plants partially complemented the morphological mutant phenotype and enhanced levels of SUMO conjugates under heat shock conditions. In addition, ABA-hypersensitivity of <I>siz1-2</I> seed germination was partially suppressed by <I>OsSIZ1</I> and <I>OsSIZ2.</I> The results suggest that rice SIZ1 and SIZ2 are able to functionally complement <I>Arabidopsis</I> SIZ1 in the SUMO conjugation pathway. Their effects on the <I>Arabidopsis</I> mutant suggest a function for these genes related to stress responses and stress adaptation.</P>

슬관절 골관절염 증상이 환자에게 미치는 우울 효과

박영규,이윤영,이계우,김정아,윤도경,박승회,조경환,홍명호,박용규 대한노인병학회 2001 대한노인병학회지 Vol.5 No.4

축하화환에서 폐기되는 적색 거베라 추출액을 이용한 화훼디자인용 망사잎의 염색성

박윤점 ( Yun Jum Park ),안정숙 ( Hung Suk Ah ),김현아 ( Hyun A Kim ),김현주 ( Hyun Ju Kim ),최경혜 ( Koung Hea Choi ),허북구 ( Buk Gu Heo ) 한국화예디자인학회 2008 한국화예디자인학 연구 Vol.19 No.-

This study investigated special quality of Gerbera extract and stainability of skeletonized leaves along with examination for wasted at celebration wreath gerbera(Gerbera hybrida Hort.) use as nature dye. Dyed by gerbera extracts 1.50%, as the dyeing times increase 10 to 60 minutes, color differences were significant, and color value showed contrary tendency. a* value were 5.21 to 8.39 in case of skeletonized leaves. Effect of dyeing temperature, a* value showed the maximum value 9.07 of skeletonized leaves dyed at 90℃. They showed sudden increase at the extract density of 1.50% and showed slow increase at more than 1.50% density. a* value showed the maximum value 10.05 of skeletonized leaves dyed at 2.00% liquid. Stainability that follow for pH of extraction liquid is pH 1 to 8.29 and red color decreased a little in pH 3~7, and silk fabric in pH 7 move that to green direction in pH 5 appear. Color difference and color fastness according to the kinds of mordants and timing of mordants were getting significantly increased at the processing of mordants on the whole. Skeletonized leaves dyed by iron extract were significantly increased in case of the kinds of mordants, skeletonized leaves were bigger at the pre mordants. When treat mordanting after dyeing in gerbera extraction liquid by sequence of above, I could know various tone and red color, red-yellow, yellow etc. of become color development variously and value as nature dye.