Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1832, Issue 10, 2013, Pages 1776-1783

  Fargue, Sonia ^a   Rumsby, Gill ^b   Danpure, Christopher J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

Author keywords

Alanine:glyoxylate aminotransferase; Hereditary metabolic disease; Kidney stone; Primary hyperoxaluria; Pyridoxine; Vitamin B6

Indexed keywords

ALANINE GLYOXYLATE AMINOTRANSFERASE; GLYCINE; ISOLEUCINE; PHENYLALANINE; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; THREONINE;

ALLELE; ANIMAL CELL; ARTICLE; CATALYSIS; CELL LEVEL; CONTROLLED STUDY; DRUG EFFICACY; DRUG MECHANISM; ENZYME ACTIVITY; IMMUNOFLUORESCENCE MICROSCOPY; NONHUMAN; OXALOSIS 1; PRIORITY JOURNAL; PROTEIN EXPRESSION;

AGT; ALANINE:GLYOXYLATE AMINOTRANSFERASE; FBS; FETAL BOVINE SERUM; GLYCOLATE OXIDASE; GO; HEREDITARY METABOLIC DISEASE; KIDNEY STONE; MITOCHONDRIAL TARGETING SEQUENCE; MTS; PH1; PLP; PRIMARY HYPEROXALURIA; PRIMARY HYPEROXALURIA TYPE 1; PYRIDOXAL-5′-PHOSPHATE; PYRIDOXINE; VITAMIN B6;

ANIMALS; CHO CELLS; CRICETINAE; CRICETULUS; HUMANS; HYPEROXALURIA, PRIMARY; PYRIDOXINE;

CRICETULUS GRISEUS;

EID: 84879821900     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2013.04.010     Document Type: Article

References (50)

1. Danpure C.J., Jennings P.R. Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I. FEBS Lett. 1986, 201:20-24.
2. Gibbs D.A., Watts R.W. The action of pyridoxine in primary hyperoxaluria. Clin. Sci. 1970, 38:277-286.
3. Watts R.W., Chalmers R.A., Gibbs D.A., Lawson A.M., Purkiss P., Spellacy E. Studies on some possible biochemical treatments of primary hyperoxaluria. Q. J. Med 1979, 48:259-272.
4. Kopp N., Leumann E. Changing pattern of primary hyperoxaluria in Switzerland. Nephrol. Dial. Transplant. 1995, 10:2224-2227.
5. Hoppe B., Langman C.B. A United States survey on diagnosis, treatment, and outcome of primary hyperoxaluria. Pediatr. Nephrol. 2003, 18:986-991.
6. van Woerden C.S., Groothoff J.W., Wijburg F.A., Annink C., Wanders R.J.A., Waterham H.R. Clinical implications of mutation analysis in primary hyperoxaluria type 1. Kidney Int. 2004, 66:746-752.
7. Monico C.G., Olson J.B., Milliner D.S. Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria. Am. J. Nephrol. 2005, 25:183-188.
8. Monico C.G., Rossetti S., Olson J.B., Milliner D.S. Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele. Kidney Int. 2005, 67:1704-1709.
9. Williams E., Rumsby G. Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. Clin. Chem. 2007, 53:1216-1221.
10. Coulter-Mackie M.B., Lian Q., Applegarth D.A., Toone J., Waters P.J., Vallance H. Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results. Clin. Biochem. 2008, 41:598-602.
11. Harambat J., Fargue S., Acquaviva C., Gagnadoux M.-F., Janssen F., Liutkus A., Mourani C., Macher M.-A., Abramowicz D., Legendre C., Durrbach A., Tsimaratos M., Nivet H., Girardin E., Schott A.-M., Rolland M.-O., Cochat P. Genotype-phenotype correlation in primary hyperoxaluria type 1: the pGly170Arg AGXT mutation is associated with a better outcome. Kidney Int. 2010, 77:443-449.
12. Danpure C.J., Purdue P.E., Fryer P., Griffiths S., Allsop J., Lumb M.J., Guttridge K.M., Jennings P.R., Scheinman J.I., Mauer S.M. Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation. Am. J. Hum. Genet. 1993, 53:417-432.
13. Purdue P.E., Takada Y., Danpure C.J. Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. J. Cell Biol. 1990, 111:2341-2351.
14. Danpure C.J., Cooper P.J., Wise P.J., Jennings P.R. An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria. J. Cell Biol. 1989, 108:1345-1352.
15. Fargue S., Lewin J., Rumsby G., Danpure C.J. Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele. J. Biol. Chem. 2013, 288:2475-2484.
16. Knott T.G., Birdsey G.M., Sinclair K.E., Gallagher I.M., Purdue P.E., Danpure C.J. The peroxisomal targeting sequence type 1 receptor, Pex5p, and the peroxisomal import efficiency of alanine:glyoxylate aminotransferase. Biochem. J. 2000, 352(Pt. 2):409-418.
17. Lumb M.J., Danpure C.J. Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations. J. Biol. Chem. 2000, 275:36415-36422.
18. Lumb M.J., Birdsey G.M., Danpure C.J. Correction of an enzyme trafficking defect in hereditary kidney stone disease in vitro. Biochem. J. 2003, 374:79-87.
19. Behnam J.T., Williams E.L., Brink S., Rumsby G., Danpure C.J. Reconstruction of human hepatocyte glyoxylate metabolic pathways in stably transformed Chinese-hamster ovary cells. Biochem. J. 2006, 394:409-416.
20. Footitt E.J., Clayton P.T., Mills K., Heales S.J., Neergheen V., Oppenheim M., Mills P.B. Measurement of plasma B(6) vitamer profiles in children with inborn errors of vitamin B(6) metabolism using an LC-MS/MS method. J. Inherit. Metab. Dis. 2012, 36:139-145.
21. Montioli R., Fargue S., Lewin J., Zamparelli C., Danpure C.J., Borri Voltattorni C., Cellini B. The N-terminal extension is essential for the formation of the active dimeric structure of liver peroxisomal alanine:glyoxylate aminotransferase. Int. J. Biochem. Cell Biol. 2012, 44:536-546.
22. Bolte S., Cordelières F.P. A guided tour into subcellular colocalization analysis in light microscopy. J. Microsc. 2006, 224:213-232.
23. Rumsby G., Weir T., Samuell C.T. A semiautomated alanine:glyoxylate aminotransferase assay for the tissue diagnosis of primary hyperoxaluria type 1. Ann. Clin. Biochem. 1997, 34(Pt. 4):400-404.
24. Weleber R.G., Kennaway N.G., Buist N.R. Vitamin B6 in management of gyrate atrophy of choroid and retina. Lancet 1978, 2:1213.
25. Greengard O., Gordon M. The cofactor-mediated regulation of apoenzyme levels in animal tissues i the pyridoxine-induced rise of rat liver tyrosine transaminase level in vivo. J. Biol. Chem. 1963, 238:3708-3710.
26. Aoki Y., Muranaka S., Nakabayashi K., Ueda Y. delta-Aminolevulinic acid synthetase in erythroblasts of patients with pyridoxine-responsive anemia hypercatabolism caused by the increased susceptibility to the controlling protease. J. Clin. Invest. 1979, 64:1196-1203.
27. Clayton P.T. B6-responsive disorders: a model of vitamin dependency. J. Inherit. Metab. Dis. 2006, 29:317-326.
28. Cotter P.D., May A., Fitzsimons E.J., Houston T., Woodcock B.E., al-Sabah A.I., Wong L., Bishop D.F. Late-onset X-linked sideroblastic anemia Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. J. Clin. Invest. 1995, 96:2090-2096.
29. Gross-Mesilaty S., Hargrove J.L., Ciechanover A. Degradation of tyrosine aminotransferase (TAT) via the ubiquitin-proteasome pathway. FEBS Lett. 1997, 405:175-180.
30. Kennaway N.G., Weleber R.G., Buist N.R. Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6. Am. J. Hum. Genet. 1980, 32:529-541.
31. Shih V.E., Mandell R., Berson E.L. Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina. Am. J. Hum. Genet. 1988, 43:929-933.
32. Ramesh V., McClatchey A.I., Ramesh N., Benoit L.A., Berson E.L., Shih V.E., Gusella J.F. Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. Proc. Natl. Acad. Sci. U.S.A. 1988, 85:3777-3780.
33. Furuyama K., Fujita H., Nagai T., Yomogida K., Munakata H., Kondo M., Kimura A., Kuramoto A., Hayashi N., Yamamoto M. Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene. Blood 1997, 90:822-830.
34. Santana A., Salido E., Torres A., Shapiro L.J. Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase. Proc. Natl. Acad. Sci. U.S.A. 2003, 100:7277-7282.
35. Coulter-Mackie M.B., Lian Q. Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations. Mol. Genet. Metab. 2006, 89:349-359.
36. Coulter-Mackie M.B., Lian Q. Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands: study of a spectrum of missense mutants. Mol. Genet. Metab. 2008, 94:368-374.
37. Hopper E.D., Pittman A.M.C., Fitzgerald M.C., Tucker C.L. In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase. J. Biol. Chem. 2008, 283:30493-30502.
38. Cellini B., Montioli R., Paiardini A., Lorenzetto A., Voltattorni C.B. Molecular Insight into the synergism between the minor allele of human liver peroxisomal alanine:glyoxylate aminotransferase and the F152I mutation. J. Biol. Chem. 2009, 284:8349-8358.
39. Lumeng L., Lui A., Li T.K. Plasma content of B6 vitamers and its relationship to hepatic vitamin B6 metabolism. J. Clin. Invest. 1980, 66:688-695.
40. Edwards P., Liu P.K., Rose G.A. Liquid chromatographic studies of vitamin B6 metabolism in man. Clin. Chim. Acta 1990, 190:67-80.
41. Edwards P., Nemat S., Rose G.A. Effects of oral pyridoxine upon plasma and 24-hour urinary oxalate levels in normal subjects and stone formers with idiopathic hypercalciuria. Urol. Res. 1990, 18:393-396.
42. Bor M.V., Refsum H., Bisp M.R., Bleie Ø., Schneede J., Nordrehaug J.E., Ueland P.M., Nygard O.K., Nexø E. Plasma vitamin B6 vitamers before and after oral vitamin B6 treatment: a randomized placebo-controlled study. Clin. Chem. 2003, 49:155-161.
43. Midttun O., Hustad S., Solheim E., Schneede J., Ueland P.M. Multianalyte quantification of vitamin B6 and B2 species in the nanomolar range in human plasma by liquid chromatography-tandem mass spectrometry. Clin. Chem. 2005, 51:1206-1216.
44. Footitt E.J., Heales S.J., Mills P.B., Allen G.F.G., Oppenheim M., Clayton P.T. Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration. J. Inherit. Metab. Dis. 2011, 34:529-538.
45. van der Hoeven S.M., van Woerden C.S., Groothoff J.W. Primary hyperoxaluria Type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort. Nephrol. Dial. Transplant. 2012, 27:3855-3862.
46. Siekierska A., De Baets G., Reumers J., Gallardo R., Rudyak S., Broersen K., Couceiro J., Van Durme J., Schymkowitz J., Rousseau F. α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants. J. Biol. Chem. 2012, 287:28386-28397.
47. Danpure C.J. Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase. Biochimie 1993, 75:309-315.
48. Lumb M.J., Drake A.F., Danpure C.J. Effect of N-terminal alpha-helix formation on the dimerization and intracellular targeting of alanine:glyoxylate aminotransferase. J. Biol. Chem. 1999, 274:20587-20596.
49. Coulter-Mackie M.B., Lian Q., Wong S.G. Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor. Protein Expr. Purif. 2005, 41:18-26.
50. Cellini B., Montioli R., Paiardini A., Lorenzetto A., Maset F., Bellini T., Oppici E., Voltattorni C.B. Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I. Proc. Natl. Acad. Sci. U.S.A. 2010, 107:2896-2901.