Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type

Human Molecular Genetics

Volumn 22, Issue 18, 2013, Pages 3680-3689

  Jorge Finnigan, Ana ^a,b,c   Brasil, Sandra ^a,b,d   Underhaug, Jarl ^c   Ruíz Sala, Pedro ^a,b   Merinero, Begoña ^a,b   Banerjee, Ruma ^e   Desviat, Lourdes R ^a,b   Ugarte, Magdalena ^a,b   Martinez, Aurora ^c   Pérez, Belén ^a,b  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c UNIVERSITY OF BERGEN   (Norway)

^d RESEARCH INSTITUTE FOR MEDICINES IMED ULISBOA   (Portugal)

^e UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ATR PROTEIN; CHAPERONE; COBALAMIN; LIGAND;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; C57BL 6 MOUSE; CONTROLLED STUDY; FEMALE; FIBROBLAST; GENE MUTATION; METHYLMALONIC ACIDURIA; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PURIFICATION; PROTEIN STABILITY; STEADY STATE; THERMOSTABILITY; WILD TYPE;

ALKYL AND ARYL TRANSFERASES; AMINO ACID METABOLISM, INBORN ERRORS; ANIMALS; BENZENEACETAMIDES; BINDING SITES; BRAIN; ENZYME STABILITY; FEMALE; HIGH-THROUGHPUT SCREENING ASSAYS; HUMANS; LIVER; MICE; MICE, INBRED C57BL; MOLECULAR DOCKING SIMULATION; MUTANT PROTEINS; THIOUREA; VITAMIN B 12;

EID: 84882931235     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt217     Document Type: Article

References (39)

1. Fowler, B., Leonard, J.V. and Baumgartner, M.R. (2008) Causes of and diagnostic approach to methylmalonic acidurias. J. Inherit. Metab. Dis., 31, 350-360.
2. Coelho, D., Kim, J.C., Miousse, I.R., Fung, S., D))u Moulin, M., Buers, I., Suormala, T., Burda, P., Frapolli, M., Stucki, M. et al. (2012) Mutations in ABCD4cause a new inborn error of vitamin B(12) metabolism. Nat. Genet., 44, 1152-1155.
3. Coelho, D., Suormala, T., Stucki, M., Lerner-Ellis, J.P., Rosenblatt, D.S., Newbold, R.F., Baumgartner, M.R. and Fowler, B. (2008) Gene identification for the cblD defect of vitamin B12 metabolism. N. Engl. J. Med., 358, 1454-1464.
4. Rutsch, F., Gailus, S., Miousse, I.R., Suormala, T., Sagne, C., Toliat, M.R., Nurnberg, G., Wittkampf, T., Buers, I., Sharifi, A. et al. (2009) Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nat. Genet., 41, 234-239.
5. Banerjee, R., Gherasim, C. and Padovani, D. (2009)The tinker, tailor, soldier in intracellular B12 trafficking. Curr. Opin. Chem. Biol., 13, 477-484.
6. Froese, D.S., Healy, S., McDonald, M., Kochan, G., Oppermann, U., Niesen, F.H. and Gravel, R.A. (2010) Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder. Mol. Genet. Metab., 100, 29-36.
7. Padovani, D., Labunska, T., Palfey, B.A., Ballou, D.P. and Banerjee, R. (2008) Adenosyltransferase tailors and delivers coenzyme B12. Nat. Chem. Biol., 4, 194-196.
8. Dobson, C.M., Wai, T., Leclerc, D., Wilson, A., Wu, X., Dore, C., Hudson, T., Rosenblatt, D.S. and Gravel, R.A. (2002) Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Proc. Natl Acad. Sci. USA, 99, 15554-15559.
9. Schubert, H.L. and Hill, C.P. (2006) Structure of ATP-Bound Human ATP:Cobalamin Adenosyltransferase. Biochemistry, 45, 15188-15196.
10. Fenton, W.A., Gravel, R.A. and Rosenberg, L.E. (2001) In Scriver, C.R., Beaudet, A.L., Sly, W. and Valle, D. (eds), The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp. 2165-2190.
11. Gregersen, N., Bross, P., Vang, S. and Christensen, J.H. (2006) Protein misfolding and human disease. Annu. Rev. Genomics. Hum. Genet., 7, 103-124.
12. Martinez, A., Calvo, A.C., Teigen, K. and Pey, A.L. (2008) Rescuing proteins of low kinetic stability by chaperones and natural ligands phenylketonuria, a case study. Prog. Mol. Biol. Transl. Sci., 83, 89-134.
13. Cheung, J.C. and Deber, C.M. (2008) Misfolding of the cystic fibrosis transmembrane conductance regulator and disease. Biochemistry, 47, 1465-1473.
14. Loo, T.W. and Clarke, D.M. (2007) Chemical and pharmacological chaperones as new therapeutic agents. Expert Rev. Mol. Med., 9, 1-18.
15. Conn, P.M. and Janovick, J.A. (2009) Drug development and the cellular quality control system. Trends Pharmacol. Sci., 30, 228-233.
16. Bonnefont, J.P., Bastin, J., Laforet, P., Aubey, F., Mogenet, A., Romano, S., Ricquier, D., Gobin-Limballe, S., Vassault, A., Behin, A. et al. (2010) Long-termfollow-up of bezafibrate treatment in patients with the myopathic form of carnitine palmitoyltransferase 2 deficiency. Clin. Pharmacol. Therap., 88, 101-108.
17. Parenti, G., Zuppaldi, A., Gabriela Pittis, M., Rosaria Tuzzi, M., Annunziata, I., Meroni, G., Porto, C., Donaudy, F., Rossi, B., Rossi, M. et al. (2007) Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. Mol. Ther., 15, 508-514.
18. Benjamin, E.R., Khanna, R., Schilling, A., Flanagan, J.J., Pellegrino, L.J., Brignol, N., Lun, Y., Guillen, D., Ranes, B.E., Frascella, M. et al. (2012) Co-administration with the pharmacological chaperone AT1001 increases recombinant human alpha-galactosidase A tissue uptake and improves substrate reduction in Fabry mice. Mol. Ther., 20, 717-726.
19. Santos-Sierra, S., Kirchmair, J., Perna, A.M., Reiss, D., Kemter, K., Roschinger, W., Glossmann, H., Gersting, S.W., Muntau, A.C., Wolber, G. et al. (2012) Novel pharmacological chaperones that correct phenylketonuria in mice. Hum. Mol. Genet., 21, 1877-1887.
20. Jorge-Finnigan, A., Aguado, C., Sanchez-Alcudia, R., Abia, D., Richard, E., Merinero, B., Gamez, A., Banerjee, R., Desviat, L.R., Ugarte, M. et al. (2010) Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type. Hum. Mutat., 31, 1033-1042.
21. Cooper, A. and McAuley-Hecht, K.E. (1993) Microcalorimetry and the molecular recognition of peptides and proteins. Philos. Trans. R. Soc. A, 345, 23-35.
22. Zhang, J., Dobson, C.M., Wu, X., Lerner-Ellis, J., Rosenblatt, D.S. and Gravel, R.A. (2006) Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism. Mol. Genet. Metab., 87, 315-322.
23. Valenzano, K.J., Khanna, R., Powe, A.C., Boyd, R., Lee, G., Flanagan, J.J. and Benjamin, E.R. (2011) Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders. Assay. Drug Dev. Technol., 9, 213-235.
24. Grosdidier, A., Zoete, V. and Michielin, O. (2011) SwissDock, a protein-small molecule docking web service based on EADock DSS. Nucleic Acids Res., 39, W270-W277.
25. Grosdidier, A., Zoete, V. and Michielin, O. (2011) Fast docking using the CHARMM force field with EADock DSS. J. Comput. Chem., 32, 2149-2159.
26. Grosdidier, A., Zoete, V. and Michielin, O. (2007) EADock: docking of small molecules into protein active sites with a multiobjective evolutionary optimization. Proteins, 67, 1010-1025.
27. Wong, E. and Cuervo, A.M. Integration of clearance mechanisms: the proteasome and autophagy. Cold Spring Harbor Perspect. Biol., 2, a006734.
28. Calvo, A.C., Scherer, T., Pey, A.L., Ying, M., Winge, I., McKinney, J., Haavik, J., Thony, B. and Martinez, A. (2010) Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2. J. Neurochem., 114, 853-863.
29. Lee, W.C., Kang, D., Causevic, E., Herdt, A.R., Eckman, E.A. and Eckman, C.B. (2010) Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones. J. Neurosci., 30, 5489-5497.
30. Khanna, R., Benjamin, E., Pellegrino, L., Schilling, A., Rigat, B., Soska, R., Nafar, H., Ranes, B., Feng, J., Lun, Y. et al. (2010) The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase. The FEBS J., 277, 1618-1638.
31. Benjamin, E.R., Flanagan, J.J., Schilling, A., Chang, H.H., Agarwal, L., Katz, E., Wu, X., Pine, C., Wustman, B., Desnick, R.J. et al. (2009) The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. J. Inherit. Metab. Dis., 32, 424-440.
32. Fan, C. and Bobik, T.A. (2008) Functional characterization and mutation analysis of human ATP:Cob(I)alamin adenosyltransferase. Biochemistry, 47, 2806-2813.
33. Klotz, U. (2007) The role of pharmacogenetics in the metabolism of antiepileptic drugs: pharmacokinetic and therapeutic implications. Clin. Pharmacokinet., 46, 271-279.
34. Dawood, S. and Leyland-Jones, B. (2009) Pharmacology and pharmacogenetics of chemotherapeutic agents. Cancer Invest., 27, 482-488.
35. Ballhausen, D., Mittaz, L., Boulat, O., Bonafe, L. and Braissant, O. (2009) Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain. Neuroscience, 164, 578-587.
36. Leal, N.A., Olteanu, H., Banerjee, R. and Bobik, T.A. (2004) Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductase. J. Biol. Chem., 279, 47536-47542.
37. Niesen, F.H., Berglund, H. and Vedadi, M. (2007) The use of differential scanning fluorimetry to detect ligand interactions that promote protein stability. Nat. Protocols, 2, 2212-2221.
38. Johnson, C.L., Pechonick, E., Park, S.D., Havemann, G.D., Leal, N.A. and Bobik, T.A. (2001) Functional genomic, biochemical and genetic characterization of the Salmonella pduO gene, an ATP:cob(I)alamin adenosyltransferase gene. J. Bacteriol., 183, 1577-1584.
39. Perez-Cerda, C., Merinero, B., Sanz, P., Jimenez, A., Garcia, M.J., Urbon, A., Diaz Recasens, J., Ramos, C., Ayuso, C. and Ugarte, M. (1989) Successful first trimester diagnosis in a pregnancy at risk for propionic acidaemia. J. Inherit. Metab. Dis., 12(Suppl. 2), 274-276.