• Title/Summary/Keyword: ATP8B1

Search Result 45, Processing Time 0.034 seconds

Intragenic DNA Methylation Concomitant with Repression of ATP4B and ATP4A Gene Expression in Gastric Cancer is a Potential Serum Biomarker

  • Raja, Uthandaraman Mahalinga;Gopal, Gopisetty;Rajkumar, Thangarajan
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.13 no.11
    • /
    • pp.5563-5568
    • /
    • 2012
  • Based on our previous report on gastric cancer which documented ATP4A and ATP4B mRNA down-regulation in gastric tumors relative to normal gastric tissues, we hypothesized that epigenetic mechanisms could be responsible. ATP4A and ATP4B mRNA expression in gastric cancer cell lines AGS, SNU638 and NUGC-3 was examined using reverse transcriptase PCR (RT-PCR). AGS cells were treated with TSA or 5'-AzaDC and methylation specific PCR (MSP) and bisulfite sequencing PCR (BSP) analysis were performed. MSP analysis was on DNA from paraffin embedded tissues sections and plasma. Expression analysis revealed downregulation of ATP4A and ATP4B genes in gastric cancer cell lines relative to normal gastric tissue, while treatment with 5'-AzaDC re-activated expression of both. Search for CpG islands in their putative promoter regions did not indicate CpG islands (CGI) but only further downstream in the bodies of the genes. Methylation specific PCR (MSP) in the exon1 of the ATP4B gene and exon7 in ATP4A indicated methylation in all the gastric cancer cell lines tested. MSP analysis in tumor tissue samples revealed methylation in the majority of tumor samples, 15/19, for ATP4B and 8/8 for ATP4A. There was concordance between ATP4B and ATP4A down-regulation and methylation status in the tumour samples tested. ATP4B methylation was detectable in cell free DNA from gastric cancer patient's plasma samples. Thus ATP4A and ATP4B down-regulation involves DNA methylation and methylated ATP4B DNA in plasma is a potential biomarker for gastric cancer.

Association of a c.1084A>G (p.Thr362Ala)Variant in the DCTN4 Gene with Wilson Disease

  • Lee, Robin Dong-Woo;Kim, Jae-Jung;Kim, Joo-Hyun;Lee, Jong-Keuk;Yoo, Han-Wook
    • Journal of Genetic Medicine
    • /
    • v.8 no.1
    • /
    • pp.53-57
    • /
    • 2011
  • Purpose: Wilson disease is an autosomal recessive disorder which causes excessive copper accumulation in the hepatic region. So far, ATP7B gene is the only disease-causing gene of Wilson disease known to date. However, ATP7B mutations have not been found in ~15% of the patients. This study was performed to identify any causative gene in Wilson disease patients without an ATP7B mutation in either allele. Materials and Methods: The sequence of the coding regions and exon-intron boundaries of the five ATP7B-interacting genes, ATOX1, COMMD1, GLRX, DCTN4, and ZBTB16, were analyzed in the 12 patients with Wilson disease. Results: Three nonsynonymous variants including c.1084A>G (p.Thr362Ala) in the exon 12 of the DCTN4 gene were identified in the patients examined. Among these, only p.Thr362Ala was predicted as possibly damaging protein function by in silico analysis. Examination of allele frequency of c.1084A>G (p.Thr362Ala) variant in the 176 patients with Wilson disease and in the 414 normal subjects revealed that the variant was more prevalent in the Wilson disease patients (odds ratio [OR]=3.14, 95% confidence interval=1.36-7.22, P=0.0094). Conclusion: Our result suggests that c.1084A>G (p.Thr362Ala) in the ATP7B-interacting DCTN4 gene may be associated with the pathogenesis of Wilson disease.

Benign Recurrent Intrahepatic Cholestasis with a Single Heterozygote Mutation in the ATP8B1 Gene

  • Lee, Yun Seok;Kim, Mi Jin;Ki, Chang Seok;Lee, Yoo Min;Lee, Yoon;Choe, Yon Ho
    • Pediatric Gastroenterology, Hepatology & Nutrition
    • /
    • v.15 no.2
    • /
    • pp.122-126
    • /
    • 2012
  • Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by multiple recurrent episodes of severe cholestatic jaundice without obstruction of extrahepatic bile duct. We present the case of a 7-year-old boy with BRIC confirmed by mutation analysis in the ATP8B1 gene and typical clinical manifestation. Despite inheritance of BRIC, we detected a mutation on only one allele. To our knowledge, this is the first report of BRIC with a confirmed single heterozygote novel mutation in the ATP8B1 gene in Korea.

Fermentative Production of 5'-GMP from 5'-XMP by XMP aminase and ATP-generation System of Saccharomyces cerevisiae (효모 Saccharomyces cevevisiae의 ATP 생성계와 XMP aminase에 의한 5'-XMP로부터 5'-GMP 발효생산)

  • Cho, Jung-Il
    • The Korean Journal of Mycology
    • /
    • v.21 no.4
    • /
    • pp.285-292
    • /
    • 1993
  • For the enzymatic conversion of 5'-XMP to 5'-GMP, partially purified XMP aminase from Escherichia coli was coupled with the yeast, Saccharomycrs cerevisiae, capable of ATP regeneration through glycolytic pathway. In order to elevate the level of XMP aminase in E. coli, $guaB^{-}(IMP\;dehydrogenase-less)$ mutant were introduced, and the yeast used as ATP supplier was treated by some method to increase its membrane permeability. The optimum conditions for efficient conversion reaction by energy-coupled system were investigated. As the results, a CH 41, $guaB^-$ mutant of E. coli K-12, showed 2.75 fold increase in the level of XMP aminase, compared with its parent cell. And the lyophylized yeast was the most effective at the ATP supplier. The optimum temperature and pH of conversion reaction were $40{\circ]C$ and pH 7.4, and the highest conversion ratio was shown under the reaction condition of 100 mM glucose, 100 mM inorganic phosphate and 6 mM AMP. When 36 units/ml XMP aminase used under the above conditions, the amount of 60 mg/ml yeast was sufficient to be used. Under the optimum condition, 71% of 1.8 mM(65.6 mg/100 ml) 5'-XMP was converted to 5'-GMP within 8 hr.

  • PDF

Phylogenetic relationships of Korean campanulaceae based on chloroplast DNA sequences (엽록체 DNA 염기서열 분석을 이용한 한국산 초롱꽃과 (Campanulaceae)의 계통유연관계)

  • Kim, Kyung-Ah;Yoo, Ki-Oug
    • Korean Journal of Plant Taxonomy
    • /
    • v.42 no.4
    • /
    • pp.282-293
    • /
    • 2012
  • Phylogenetic studies were conducted to evaluate the taxonomic relationships among 28 taxa, including 2 outgroups of Korean Campanulaceae, using atpB, atpB-rbcL, atpF-H, matK, rbcL, rpl16, rpoC1 and trnL-F regions sequences in chloroplast DNA. The combined analyses of eight chloroplast DNA regions suggest that Codonopsis and Platycodon basally branches within the phylogenetic tree; Wahlenbergia distinguished an independent clade; Campanula forms a clade; Peracarpa and Asyneuma clade is a sister to the Adenophora-Hanabusaya clade; Hanabusaya is placed within the section Remotiflorae of Adenophora; Adenophora form a clade. Our present results support the generic level, although discordance remained at the infrageneric groups such as section and series based on morphological characteristics in the genus Adenophora.

Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1

  • Rhee, Eun Sang;Kim, Yu Bin;Lee, Sunghee;Oh, Seak Hee;Lee, Beom Hee;Kim, Kyung Mo;Yoo, Han-Wook
    • Pediatric Gastroenterology, Hepatology & Nutrition
    • /
    • v.22 no.5
    • /
    • pp.479-486
    • /
    • 2019
  • Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic disorders, inherited in an autosomal recessive manner, causing cholestasis of hepatocellular origin, later progressing to biliary cirrhosis and liver failure. This is the first report of PFIC type 1 with novel compound heterozygous mutations in Korea. The patient was presented with intrahepatic cholestasis, a normal level of serum ${\gamma}-glutamyl$ transferase, steatorrhea, and growth failure. Genetic testing of this patient revealed novel compound heterozygous mutations (p.Glu585Ter and p.Leu749Pro) in the ATP8B1 gene. After a liver transplantation at age 19 months, the patient developed severe post-transplant steatohepatitis.

Evauation of Hygienic Status of High School Foodservice using ATP Bioluminescence Assay & Microorganism Test Strips (ATP Bioluminescence와 간이미생물배지를 이용한 고등학교 급식시설의 위생상태 조사연구)

  • Jang, Jae-Seon;Hwang, Seong-Hee
    • The Korean Journal of Food And Nutrition
    • /
    • v.28 no.5
    • /
    • pp.918-925
    • /
    • 2015
  • An investigation was conducted to evaluate the hygienic status of 33 high school foodservice systems in Yongin city by using hygiene management guide checklist, ATP bioluminescence assay and microbe inspection petrifilm (APC, coliform group, Staphylococcus aureus) of food utensils during use. The 22 hygiene management guide checklist items about facilities, personal hygiene, food control, distribution, washing and disinfection had good grade but there were some inadequate behaviors on observation. The inspection results showed their sanitary condition met the level B of the recommendation of Korea method, it means sanitary management system get settled but more practical CCP system was needed. ATP bioluminescence assay was conducted on surface of food facilities, ATP ranged 425~2,552 RLU on gloves, 541~70,251 RLU on apron, 1,596~88,490 RLU on working desk, 1,177~263,813 RLU on sterilizer grip, 715~32,814 RLU on sterilizer shelf, 114~619,725 RLU on refrigerator grip, 677~319,007 RLU on refrigerator shelf, 71~196,725 RLU on freezer grip, 1,535~233,375 RLU on freezer shelf. APC ranged $66.7{\pm}29.0CFU$ on freezer grip, $102.1{\pm}35.9CFU$ on refrigerator grip, $45.4{\pm}28.2CFU$ on heating cabinet grip, $58.8{\pm}40.4CFU$ on sterilizer grip, the number of coliform group ranged $5.6{\pm}4.9CFU$ on freezer grip, $9.1{\pm}8.7CFU$ on refrigerator grip, $1.2{\pm}1.1CFU$ on heating cabinet grip, $4.5{\pm}4.4CFU$ on sterilizer grip. S. aureus ranged $8.0{\pm}5.6CFU$ on freezer grip, $12.2{\pm}9.6CFU$ on refrigerator grip, $2.1{\pm}1.6CFU$ on heating cabinet grip, $11.6{\pm}6.4CFU$ on sterilizer grip.

심정지액을 이용한 개심술에 있어서 심근 ATP에 대한 실험적 연구

  • Jo, Sung-Rae;Lee, Sung-Kwang
    • Journal of Chest Surgery
    • /
    • v.13 no.1
    • /
    • pp.21-25
    • /
    • 1980
  • This study was attempted to evaluate the effectiveness of cold cardioplegic solution [group B] compared with that of intermittent aortic cross clamping [group A]. 1. In group A, two dogs recovered spontaneous heart beat without using defibrillator and one case was used defibrillator once. In group B, four dogs recovered the spontaneous heart beat even without defibrillator and in one animal the defibrillator was used three times. 2. There was no significant difference in serum electrolyte [Na+, Ca2+, Cl- ] between group, but K+ level was decreased in both group. 3. The group A showed more increasing in serum LDH activity than group B. 4. The postoperative myocardial ATP level was $2.35{\pm}0.10$ ${\mu}$M/Gm. of wet weight in control group, $1.46{\pm}0.16$${\mu}$M/Gm. of wet weight in group A [60.2% of control group], and $1.80{\pm}0.14$${\mu}$M/Gm. of wet weight in group B [76.8% of control group].

  • PDF

Application of Cardiac Electromechanical FE Model for Predicting Pumping Efficacy of LVAD According to Heart Failure Severity (심부전 정도에 따른 좌심실보조장치의 박동효율예측을 위한 심장의 전기역학적 유한요소 모델의 응용)

  • Jung, Dae Hyun;Lim, Ki Moo
    • Transactions of the Korean Society of Mechanical Engineers B
    • /
    • v.38 no.8
    • /
    • pp.715-720
    • /
    • 2014
  • In order to maximize the effect of left ventricular assist device (LVAD) on ventricular unloading, the therapy should be begun at appropriate level of heart failure severity. We predicted pumping efficacy of LVAD according to the severity of heart failure theoretically. We used 3 dimensional finite element model of ventricle coupled with 6 Wind-kessel compartmental model of vascular system. Using the computational model, we predicted cardiac responses such as contractile ATP consumption of ventricle, left ventricular pressure, cardiac output, ejection fraction, and stroke work according to the severity of ventricular systolic dysfunction under the treatments of continuous LVAD. Contractile ATP consumption, which indicates the ventricular energetic loading condition decreased maximally at the $5^{th}$ level heart-failure under LVAD therapy. We conclude that optimal timing for LVAD treatment is $5^{th}$ level heart-failure when considering LVAD treatment as "bridge to recovery".

The Relationship of Pulmonary Artery Copper Concentrations and Genes Involved in Copper Homeostasis in Cattle, Swine, and Goats

  • Han, Hyung-Chul;So, Hye-Jin;Domby, Elizabeth;Engle, Terry
    • Asian-Australasian Journal of Animal Sciences
    • /
    • v.25 no.2
    • /
    • pp.194-199
    • /
    • 2012
  • Liver and pulmonary artery tissue from 5 Angus cross bred steers, 6 goats, and 6 pigs were collected at a commercial abattoir to examine the relationship of pulmonary artery copper (Cu) concentrations and genes involved in copper homeostasis. Liver and pulmonary artery samples were collected at the time of harvest and snap frozen. Liver and pulmonary artery Cu concentrations were determined via flame atomic absorption spectrophotometry and gene expression was determined via real time PCR. Liver Cu concentrations (mg Cu/kg DM${\pm}$SE) were higher (p<0.01) in cows ($396.4{\pm}109.1$) and goats ($181.4{\pm}37.0$) than in pigs ($19.2{\pm}3.5$). All liver Cu concentrations were within normal ranges and considered adequate for each species. Liver Cu concentration was more variable in cows and goats compared to pig liver Cu concentrations. Pulmonary artery ${\beta}$-hydroxylproline was higher (p<0.01) in cow and pig than goat. Real Time PCR revealed that goat liver atp7a was positively correlated ($r^2$ = 0.92; p<0.01) to liver Cu concentrations while cow and pig atp7a was not correlated to liver Cu concentration. In the pig, liver atp7a concentration was positively correlated to atp7b ($r^2$ = 0.66; p<0.05). Pulmonary artery Cu concentration was highest in cows ($14.9{\pm}4.7$), intermediate in pigs ($8.9{\pm}3.3$), and lowest in goats ($3.9{\pm}1.1$). Goat pulmonary artery Cu concentration was not correlated to ctr1 concentration, however, atp7a concentration was positively correlated with ctr1 ($r^2$ = 0.90; p<0.01). In cow pulmonary artery, loxl1 concentration was positively correlated to eln mRNA concentration ($r^2$ = 0.91; p<0.02). Pulmonary artery CTR1 protein concentration was positively correlated to pulmonary artery Cu ($r^2$ = 0.85; p = 0.03) concentration while negatively correlated to liver Cu ($r^2$ = -0.79; p<0.04). Pulmonary artery Cu concentration was not correlated to concentration of Cu homeostatic genes in the pig. These data indicate that genes involved in Cu homeostasis (ctr1, atp7A, atp7B, loxl1 and eln) are differently regulated in different species.