Erythrocyte inosine triphosphatase activity is decreased in hiv-seropositive individuals

PLoS ONE

Volumn 7, Issue 1, 2012, Pages

  Bierau, Jörgen ^a   Bakker, Jaap A ^a   Schippers, Jolanda A ^a   Grashorn, Janine A C ^a   Lindhout, Martijn ^a   Lowe, Selwyn H ^a   PaulussenAimé, Aimée D C ^a   Verbon, Annelies ^a,b  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

2',3' DIDEOXYADENOSINE; ABACAVIR; ANTIRETROVIRUS AGENT; CYTARABINE; DIDANOSINE; GEMCITABINE; GENOMIC DNA; INOSINE PHOSPHATE; INOSINE TRIPHOSPHATASE; INOSINE TRIPHOSPHATE; LAMIVUDINE; MERCAPTOPURINE; PHOSPHATASE; RECOMBINANT ENZYME; STAVUDINE; TENOFOVIR; UNCLASSIFIED DRUG; ZALCITABINE; ZIDOVUDINE; ANTI HUMAN IMMUNODEFICIENCY VIRUS AGENT; INORGANIC PYROPHOSPHATASE; ITPA PROTEIN, HUMAN; NUCLEOSIDE;

ADULT; AGED; ARTICLE; CAUCASIAN; CONTROLLED STUDY; DNA SEQUENCE; DRUG EFFECT; ENZYME ACTIVITY; ENZYME INHIBITION; ENZYME KINETICS; ERYTHROCYTE; FEMALE; GENE; GENE FREQUENCY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HIGHLY ACTIVE ANTIRETROVIRAL THERAPY; HUMAN; HUMAN CELL; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; ITPA GENE; LYMPHOBLAST; LYMPHOCYTE CULTURE; MAJOR CLINICAL STUDY; MALE; WILD TYPE; ALLELE; BIOCATALYSIS; CHEMISTRY; COHORT ANALYSIS; ENZYMOLOGY; GENETIC ASSOCIATION; GENETICS; KINETICS; METABOLISM; MIDDLE AGED; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICS; TUMOR CELL LINE;

ALLELES; ANTI-HIV AGENTS; ANTIRETROVIRAL THERAPY, HIGHLY ACTIVE; BIOCATALYSIS; CELL LINE, TUMOR; COHORT STUDIES; ERYTHROCYTES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HIV SEROPOSITIVITY; HUMANS; KINETICS; MALE; MIDDLE AGED; NUCLEOSIDES; POLYMORPHISM, SINGLE NUCLEOTIDE; PYROPHOSPHATASES;

EID: 84855846749     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0030175     Document Type: Article

References (23)

1. Bierau J, Lindhout M, Bakker JA, (2007) Pharmacogenetic significance of inosine triphosphatase. Pharmacogenomics 8: 1221-1228.
2. Galperin MY, Moroz OV, Wilson KS, Murzin AG, (2006) House cleaning, a part of good housekeeping. Mol Microbiol 59: 5-19.
3. Marsh S, King CR, Ahluwalia R, McLeod HL, (2004) Distribution of ITPA P32T alleles in multiple world populations. J Hum Genet 49: 579-581.
4. Marinaki AM, Ansari A, Duley JA, Arenas M, Sumi S, et al. (2004) Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase). Pharmacogenetics 14: 181-187.
5. Sumi S, Marinaki AM, Arenas M, Fairbanks L, Shobowale-Bakre M, et al. (2002) Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency. Hum Genet 111: 360-367.
6. Arenas M, Duley J, Sumi S, Sanderson J, Marinaki A, (2007) The ITPA c.94C&A and g.IVS2+21A&C sequence variants contribute to missplicing of the ITPA gene. Biochim Biophys Acta 1772: 96-102.
7. Lin S, McLennan AG, Ying K, Wang Z, Gu S, et al. (2001) Cloning, expression, and characterization of a human inosine triphosphate pyrophosphatase encoded by the itpa gene. J Biol Chem 276: 18695-18701.
8. Vanderheiden BS, (1969) Genetic studies of human erythrocyte inosine triphosphatase. Biochem Genet 3: 289-297.
9. Fraser JH, Meyers H, Henderson JF, Brox LW, McCoy EE, (1975) Individual variation in inosine triphosphate accumulation in human erythrocytes. Clin Biochem 8: 353-364.
10. Vanderheiden BS, Bora G, (1980) Erythrocyte ITP pyrophosphohydrolase in chronic paranoid and undifferentiated schizophrenics: a biological difference. Biochem Med 23: 76-86.
11. Bakker JA, Bierau J, Drent M, (2010) A role for ITPA variants in the clinical course of pulmonary Langerhans' cell histiocytosis? Eur Respir J 36: 684-686.
12. von Ahsen N, Armstrong VW, Behrens C, von Tirpitz C, Stallmach A, et al. (2005) Association of inosine triphosphatase 94C&A and thiopurine S-methyltransferase deficiency with adverse events and study drop-outs under azathioprine therapy in a prospective Crohn disease study. Clin Chem 51: 2282-2288.
13. Fellay J, Thompson AJ, Ge D, Gumbs CE, Urban TJ, et al. (2010) ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. Nature 464: 405-408.
14. Gras L, Van Sighem AI, Smit C, Zaheri S, Schuitemaker H, et al. (2009) pp. 27-28 Monitoring of HIV infection in the Netherlands, 2009 Annual report.
15. Atanasova S, Shipkova M, Svinarov D, Mladenova A, Genova M, et al. (2007) Analysis of ITPA phenotype-genotype correlation in the Bulgarian population revealed a novel gene variant in exon 6. Ther Drug Monit 29: 6-10.
16. Jacobsson B, Britton S, Tornevik Y, Eriksson S, (1998) Decrease in thymidylate kinase activity in peripheral blood mononuclear cells from HIV-infected individuals. Biochem Pharmacol 56: 389-395.
17. Jacobsson B, Britton S, He Q, Karlsson A, Eriksson S, (1995) Decreased thymidine kinase levels in peripheral blood cells from HIV-seropositive individuals: implications for zidovudine metabolism. AIDS Res Hum Retroviruses 11: 805-811.
18. Bofill M, Fairbanks LD, Ruckemann K, Lipman M, Simmonds HA, (1995) T-lymphocytes from AIDS Patients Are Unable to Synthesize Ribonucleotides de Novo in Response to Mitogenic Stimulation. J Biol Chem 270: 29690-29697.
19. Herting G, Barber K, Zappala MR, Cunningham RP, Burgis NE, (2010) Quantitative in vitro and in vivo characterization of the human P32T mutant ITPase. Biochim Biophys Acta 1802 (2): 269-274.
20. Stepchenkova EI, Tarakhovskaya ER, Spitler K, Frahm C, Menezes MR, et al. (2009) Functional study of the P32T ITPA variant associated with drug sensitivity in humans. J Mol Biol 392: 602-613.
21. Bakker JA, Drent M, Bierau J, (2007) Relevance of pharmacogenetic aspects of mercaptopurine metabolism in the treatment of interstitial lung disease. Current Opinion in Pulmonology Medicine 13: 458-463.
22. Bakker JA, Lindhout M, Dorland L, Bierau J, (2009) A comparative study of inosine triphosphatase activity in fresh erythrocytes and dried blood spots. Clinica Chimica Acta 405: 155.
23. Bierau J, Bakker JA, Lindhout M, van Gennip AH, (2006) Determination of ITPase activity in erythrocyte lysates obtained for determination of TPMT activity. Nucleosides Nucleotides Nucleic Acids 25: 1129-1132.