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Genetic mutation of vitamin K-dependent gamma-glutamyl carboxylase domain in patients with calcium oxalate urolithiasis

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Summary

To investigate the exon mutation of vitamin K-dependent gamma-glutamyl carboxylase (GGCX or VKDC) in patients with calcium oxalate urolithasis, renal cortex and peripheral blood samples were obtained from severe hydronephrosis patients (with or without calculi), and renal tumor patients undergoing nephrectomy. GGCX mutations in all 15 exons were examined in 44 patients with calcium oxalate urolithiasis (COU) by polymerase chain reaction (PCR) and denatured high pressure liquid chromatography (DHPLC), and confirmed by sequencing. Mutation was not found in all COU samples compared to the controls. These data demonstrated that functional GGCX mutations in all 15 exons do not occur in most COU patients. It was suggested that there may be no significant association between the low activity and mutation of GGCX in COU.

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References

  1. Watts RW. Idiopathic urinary stone disease: possible polygenic aetiological factors. QJM, 2005,98(4):241–246

    Article  PubMed  CAS  Google Scholar 

  2. Stapleton AM, Ryall RL. Blood coagulation proteins and urolithiasis are linked: crystal matrix protein is the F1 activation peptide of human prothrombin. Br J Urol, 1995,75(6):712–719

    Article  PubMed  CAS  Google Scholar 

  3. Grover PK, Ryall RL. Inhibition of calcium oxalate crystal growth and aggregation by prothrombin and its fragments in vitro: relationship between protein structure and inhibitory activity. Eur J Biochem, 1999, 263(1):50–56

    Article  PubMed  CAS  Google Scholar 

  4. Liu JH, Wang T, Chen JH, et al. Decreased inhibitory activity of prothrombin to calcium oxalate crystallization by specific chemical modification of its gamma-carboxyglutamic acid residues. Urology, 2006,67(1):201–203

    Article  PubMed  Google Scholar 

  5. Furie B, Bouchard BA, Furie BC. Vitamin K-dependent biosynthesis of gamma-carboxyglutamic acid. Blood, 1999,93(6): 1798–1808

    PubMed  CAS  Google Scholar 

  6. Chen JH, Liu JH, Zhang YS, et al. Decreased renal vitamin K-dependent gamma-glutamyl carboxylase activity in calcium oxalate calculi patients. Chin Med J (Engl), 2003,116(4): 569–572

    CAS  Google Scholar 

  7. Wolford JK, Blunt D, Ballecer C, et al. High-throughput SNP detection by using DNA pooling and denaturing high performance liquid chromatography (DHPLC). Hum Genet, 2000,107(5): 483–487

    Article  PubMed  CAS  Google Scholar 

  8. Oldenburg J, von Brederlow B, Fregin A, et al. Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase-complex. Thromb Haemost, 2000, 84(6):937–941

    PubMed  CAS  Google Scholar 

  9. Kuo WL, Stafford DW, Cruces J, et al. Chromosomal localization of the gamma-glutamyl carboxylase gene at 2p12. Genomic, 1995,25(3): 746–748

    Article  CAS  Google Scholar 

  10. Wu SM, Stafford DW, Frazier D, et al. Genomic sequence and transcription start site for the human gamma-glutamyl carboxylase. Blood, 1997,89(11):4058–4062

    PubMed  CAS  Google Scholar 

  11. Wu SM, Cheung WF, Frazier D, et al. Cloning and expression of the cDNA for human gamma-glutamyl carboxylase. Science, 1991,254(5038):1634–1636

    Article  PubMed  CAS  Google Scholar 

  12. Romero EE, Velazquez-E LJ, Deo R, et al. Cloning of rat vitamin K-dependent gamma-glutamyl carboxylase and developmentally regulated gene expression in postimplantation embryos. Expe Cell Rech, 1998,243(2):334–346

    Article  CAS  Google Scholar 

  13. Friedman PA, Mitch WE, Silva P. Localization of renal vitamin K-dependent gamma-glutamyl carboxylase to tubule cells. J Biol Chem, 1982,257:11 037–11 040

    CAS  Google Scholar 

  14. Berkner KL, McNally BA. Purification of vitamin K-dependent carboxylase from cultured cells. Methods Enzymol, 1997,282(18):313–333

    Article  PubMed  CAS  Google Scholar 

  15. Leslie YC, Niclas E, Rhian G, et al. Gamma-glutamyl carboylase (GGCX) microsatellite and warfarin dosing. Blood, 2005,106(10):3673–3674

    Article  Google Scholar 

  16. Hiroyuki K, Kimie N, Keinichiro N, et al. An functional single nucleotide polymorphism in the vitamin-K-dependent gamma-glutamyl carboxylase gene (Arg 325Gln) is associated with bone mineral density in elderly Japanese women. Bone, 2007,40(2):451–456

    Article  Google Scholar 

  17. Spronk HM, Farah RA, Buchanan GR, et al. Novel mutation in the gamma-glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors. Blood, 2000,96(10):3650–3652

    PubMed  CAS  Google Scholar 

  18. Rost S, Geisen C, Fregin A, et al. Founder mutation Arg485Pro led to recurrent compound heterozygous GGCX genotypes in two German patients with VKCFD type 1. Blood Coagul Fibrinolysis, 2006,17(6): 503–507

    Article  PubMed  CAS  Google Scholar 

  19. Angayarkanni N, Selvam R. Enhanced renal vitamin K-dependent gamma-glutamyl carboxylase activity in experimental rat urolithiasis. Eur Urol, 1998,33(1):116–120

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China

    Jiankun Qiao  (乔建坤), Tao Wang  (王 涛), Jun Yang  (杨 俊), Jihong Liu  (刘继红), Xiaoxin Gong  (龚小新), Xiaolin Guo  (郭小林), Shaogang Wang  (王少刚) & Zhangqun Ye  (叶章群)

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  1. Jiankun Qiao  (乔建坤)
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  2. Tao Wang  (王 涛)
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  3. Jun Yang  (杨 俊)
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  4. Jihong Liu  (刘继红)
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  5. Xiaoxin Gong  (龚小新)
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  6. Xiaolin Guo  (郭小林)
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  7. Shaogang Wang  (王少刚)
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  8. Zhangqun Ye  (叶章群)
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Qiao, J., Wang, T., Yang, J. et al. Genetic mutation of vitamin K-dependent gamma-glutamyl carboxylase domain in patients with calcium oxalate urolithiasis. J. Huazhong Univ. Sci. Technol. [Med. Sci.] 29, 604–608 (2009). https://doi.org/10.1007/s11596-009-0514-5

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  • DOI: https://doi.org/10.1007/s11596-009-0514-5

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