Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism

Human Molecular Genetics

Volumn 21, Issue 6, 2012, Pages 1410-1418

  Stucki, Martin ^a,b   Coelho, David ^a,c   Suormala, Terttu ^a,c   Burda, Patricie ^a   Fowler, Brian ^c   Baumgartner, Matthias R ^a,b  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

COBALAMIN; COBAMAMIDE; MECOBALAMIN; MESSENGER RNA;

ALLELE; ARTICLE; CELL MIGRATION; CLINICAL ARTICLE; CODON; CYANOCOBALAMIN DEFICIENCY; EXPRESSION VECTOR; FIBROBLAST; GENE MUTATION; HOMOCYSTINURIA; HUMAN; HUMAN CELL; METHYLMALONIC ACIDURIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; VITAMIN METABOLISM; WESTERN BLOTTING; WILD TYPE;

AMINO ACID METABOLISM, INBORN ERRORS; BLOTTING, WESTERN; CELLS, CULTURED; CYTOPLASM; FIBROBLASTS; HOMOCYSTINURIA; HUMANS; MITOCHONDRIA; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MUTATION; PHENOTYPE; REAL-TIME POLYMERASE CHAIN REACTION; RNA, MESSENGER; VITAMIN B 12; VITAMIN B 12 DEFICIENCY;

EID: 84857676447     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr579     Document Type: Article

References (27)

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. Rosenblatt, D. and Fenton, W.A. (2001) Inherited disorders of folate and cobalamin transport and metabolism. In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill, New York, pp. 3897-3933.
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. Cooper, B.A., Rosenblatt, D.S. and Watkins, D. (1990) Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells. Am. J. Hematol., 34, 115-120.
5. Suormala, T., Baumgartner, M.R., Coelho, D., Zavadakova, P., Kozich, V., Koch, H.G., Berghauser, M., Wraith, J.E., Burlina, A., Sewell, A. et al. (2004) The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. J. Biol. Chem., 279, 42742-42749.
6. Miousse, I.R., Watkins, D., Coelho, D., Rupar, T., Crombez, E.A., Vilain, E., Bernstein, J.A., Cowan, T., Lee-Messer, C., Enns, G.M. et al. (2009) Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. J. Pediatr., 154, 551-556.
7. Claros, M.G. and Vincens, P. (1996) Computational method to predict mitochondrially imported proteins and their targeting sequences. Eur. J. Biochem./FEBS, 241, 779-786.
8. Mukhopadhyay, A., Ni, L. and Weiner, H. (2004) A co-translational model to explain the in vivo import of proteins into HeLa cell mitochondria. Biochem. J., 382, 385-392.
9. Kozak, M. (1986) Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell, 44, 283-292.
10. Schwab, S.R., Shugart, J.A., Horng, T., Malarkannan, S. and Shastri, N. (2004) Unanticipated antigens: translation initiation at CUG with leucine. PLoS Biol., 2, e366.
11. Plesa, M., Kim, J., Paquette, S.G., Gagnon, H., Ng-Thow-Hing, C., Gibbs, B.F., Hancock, M.A., Rosenblatt, D.S. and Coulton, J.W. (2011) Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B(12) metabolism. Mol. Genet. Metab., 102, 139-148.
12. Karniely, S. and Pines, O. (2005) Single translation-dual destination: mechanismsof dual protein targeting in eukaryotes.EMBORep., 6,420-425.
13. Regev-Rudzki, N., Battat, E., Goldberg, I. and Pines, O. (2009) Dual localization of fumarase is dependent on the integrity of the glyoxylate shunt. Mol. Microbiol., 72, 297-306.
14. Sohn, S., Joe, M.K., Kim, T.E., Im, J.E., Choi, Y.R., Park, H. and Kee, C. (2009) Dual localization of wild-type myocilin in the endoplasmic reticulum and extracellular compartment likely occurs due to its incomplete secretion. Mol. Vision, 15, 545-556.
15. Strobel, G., Zollner, A., Angermayr, M. and Bandlow, W. (2002) Competition of spontaneous protein folding and mitochondrial import causes dual subcellular location of major adenylate kinase. Mol. Biol. Cell, 13, 1439-1448.
16. Tazi, J., Bakkour, N. and Stamm, S. (2009) Alternative splicing and disease. Biochim. Biophys. Acta, 1792, 14-26.
17. von Braun, S.S., Sabetti, A., Hanic-Joyce, P.J., Gu, J., Schleiff, E. and Joyce, P.B. (2007) Dual targeting of the tRNA nucleotidyltransferase in plants: not just the signal. J. Exp. Bot., 58, 4083-4093.
18. Zhou, W. and Song, W. (2006) Leaky scanning and reinitiation regulate BACE1 gene expression. Mol. Cell Biol., 26, 3353-3364.
19. Dinur-Mills, M., Tal, M. and Pines, O. (2008) Dual targeted mitochondrial proteins are characterized by lower MTS parameters and total net charge. PloS ONE, 3, e2161.
20. Regev-Rudzki, N., Yogev, O. and Pines, O. (2008) The mitochondrial targeting sequence tilts the balance between mitochondrial and cytosolic dual localization. J. Cell Sci., 121, 2423-2431.
21. Mukhopadhyay, A., Yang, C.S. and Weiner, H. (2006) Binding of mitochondrial leader sequences to Tom20 assessed using a bacterial two-hybrid system shows that hydrophobic interactions are essential and that some mutated leaders that do not bind Tom20 can still be imported. Protein Sci., 15, 2739-2748.
22. Wang, X., Mann, C.J., Bai, Y., Ni, L. and Weiner, H. (1998) Molecular cloning, characterization, and potential roles of cytosolic and mitochondrial aldehyde dehydrogenases in ethanol metabolism in Saccharomyces cerevisiae. J. Bacteriol., 180, 822-830.
23. Maquat, L.E. (2004) Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat. Rev., 5, 89-99.
24. Zhang, J. and Maquat, L.E. (1997) Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells. EMBO J., 16, 826-833.
25. Litzkas, P., Jha, K.K. and Ozer, H.L. (1984) Efficient transfer of cloned DNA into human diploid cells: protoplast fusion in suspension. Mol. Cell Biol., 4, 2549-2552.
26. Baumgartner, M.R., Almashanu, S., Suormala, T., Obie, C., Cole, R.N., Packman, S., Baumgartner, E.R. and Valle, D. (2001) The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J. Clin. Invest., 107, 495-504.
27. Mukhopadhyay, A., Heard, T.S., Wen, X., Hammen, P.K. and Weiner, H. (2003) Location of the actual signal in the negatively charged leader sequence involved in the import into the mitochondrial matrix space. J. Biol. Chem., 278, 13712-13718.