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

Volumn 164, Issue 2, 2009, Pages 578-587

  Ballhausen, D ^a   Mittaz, L ^a   Boulat, O ^a   Bonafe L ^a   Braissant, O ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

developing brain; MCM; methylmalonic aciduria; MUT; PCCA; propionic aciduria

Indexed keywords

2 METHYLCITRATE; CITRIC ACID; METHYLMALONIC ACID; METHYLMALONYL COENZYME A MUTASE; PROPIONIC ACID; PROPIONYL COENZYME A; PROPIONYL COENZYME A CARBOXYLASE; UNCLASSIFIED DRUG;

ANIMAL TISSUE; ARTICLE; BRAIN DEVELOPMENT; CATABOLISM; CENTRAL NERVOUS SYSTEM; CONTROLLED STUDY; EMBRYO; ENZYME ACTIVITY; ENZYME LOCALIZATION; FATTY ACID METABOLISM; FEMALE; NEUROTOXICITY; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RAT; TISSUE DISTRIBUTION;

ANIMALS; ASTROCYTES; BLOTTING, WESTERN; BRAIN; FEMALE; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; LIVER; METHYLMALONYL-COA DECARBOXYLASE; METHYLMALONYL-COA MUTASE; NEURONS; OLIGODENDROGLIA; PROTEIN SUBUNITS; RATS; RATS, SPRAGUE-DAWLEY; SIGNAL TRANSDUCTION;

EID: 70349747285     PISSN: 03064522     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neuroscience.2009.08.028     Document Type: Article

References (41)

1. Braissant O. Measurement of nitric oxide-related enzymes in the brain by in situ hybridization. Methods Mol Biol 279 (2004) 113-124
2. Braissant O., Gotoh T., Loup M., Mori M., and Bachmann C. Differential expression of the cationic amino acid transporter 2(B) in the adult rat brain. Mol Brain Res 91 (2001) 189-195
3. Braissant O., Henry H., Loup M., Eilers B., and Bachmann C. Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study. Mol Brain Res 86 (2001) 193-201
4. Braissant O., Henry H., Villard A.M., Speer O., Wallimann T., and Bachmann C. Creatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1. BMC Dev Biol 5 (2005) 9
5. Braissant O., and Wahli W. A simplified in situ hybridization protocol using non-radioactively labelled probes to detect abundant and rare mRNAs on tissue sections. Biochemica 1 (1998) 10-16
6. Brismar J., and Ozand P.T. CT and MR of the brain in disorders of the propionate and methylmalonate metabolism. Am J Neuroradiol 15 (1994) 1459-1473
7. Campeau E., Dupuis L., Leon-Del-Rio A., and Gravel R. Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia. Mol Genet Metab 67 (1999) 11-22
8. Fenton W., Gravel R., and Rosenblatt D. Disorders of propionate and methylmalonate metabolism. In: Scriver C.R., Valle D., and Sly W.S. (Eds). The metabolic and molecular bases of inherited disease (2001), McGraw-Hill, New York 2165-2193
9. Fenton W.A., Hack A.M., Helfgott D., and Rosenberg L.E. Biogenesis of the mitochondrial enzyme methylmalonyl-CoA mutase. Synthesis and processing of a precursor in a cell-free system and in cultured cells. J Biol Chem 259 (1984) 6616-6621
10. Flavin S., Ortiz P., and Ochoa S. Metabolism of propionic acid in animal tissues. Nature 176 (1955) 823-826
11. Harting I., Seitz A., Geb S., Zwickler T., Porto L., Lindner M., Kölker S., and Horster F. Looking beyond the basal ganglia: the spectrum of MRI changes in methylmalonic acidaemia. J Inherit Metab Dis 31 (2008) 368-378
12. Heidenreich R., and Natowicz M. Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus. J Pediatr 113 (1988) 1022-1027
13. Hertz L., Yu A.C., Kala G., and Schousboe A. Neuronal-astrocytic and cytosolic-mitochondrial metabolite trafficking during brain activation, hyperammonemia and energy deprivation. Neurochem Int 37 (2000) 83-102
14. Horster F., Baumgartner M.R., Viardot C., Suormala T., Burgard P., Fowler B., Hoffmann G.F., Garbade S.F., Kölker S., and Baumgartner E.R. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res 62 (2007) 225-230
15. Kaplan P., Ficicioglu C., Mazur A.T., Palmieri M.J., and Berry G.T. Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency. Mol Genet Metab 88 (2006) 322-326
16. Katz J., and Chaikoff I. Synthesis via the Krebs' cycle in the utilization of acetate by rat liver slices. Biochim Biophys Acta 18 (1955) 87-101
17. Kennerknecht I., Klett C., and Hameister H. Assignment of the human gene propionyl coenzyme A carboxylase, alpha-chain, (PCCA) to chromosome 13q32 by in situ hybridization. Genomics 14 (1992) 550-551
18. Kolhouse J.F., Utley C., and Allen R.H. Isolation and characterization of methylmalonyl-CoA mutase from human placenta. J Biol Chem 255 (1980) 2708-2712
19. Kölker S., Sauer S.W., Surtees R.A., and Leonard J.V. The aetiology of neurological complications of organic acidaemias-A role for the blood-brain barrier. J Inherit Metab Dis 29 (2006) 701-704
20. Kölker S., Schwab M., Horster F., Sauer S., Hinz A., Wolf N.I., Mayatepek E., Hoffmann G.F., Smeitink J.A., and Okun J.G. Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain. J Biol Chem 278 (2003) 47388-47393
21. Lamhonwah A.M., Barankiewicz T.J., Willard H.F., Mahuran D.J., Quan F., and Gravel R.A. Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes. Proc Natl Acad Sci U S A 83 (1986) 4864-4868
22. Ledley F.D., Lumetta M.R., Zoghbi H.Y., VanTuinen P., Ledbetter S.A., and Ledbetter D.H. Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6. Am J Hum Genet 42 (1988) 839-846
23. Matsui S.M., Mahoney M.J., and Rosenberg L.E. The natural history of the inherited methylmalonic acidemias. N Engl J Med 308 (1983) 857-861
24. McGuire P.J., Lim-Melia E., Diaz G.A., Raymond K., Larkin A., Wasserstein M.P., and Sansaricq C. Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature. Mol Genet Metab 93 (2008) 22-29
25. Narasimhan P., Sklar R., Murrell M., Swanson R.A., and Sharp F.R. Methylmalonyl-CoA mutase induction by cerebral ischemia and neurotoxicity of the mitochondrial toxin methylmalonic acid. J Neurosci 16 (1996) 7336-7346
26. Nham S.U., Wilkemeyer M.F., and Ledley F.D. Structure of the human methylmalonyl-CoA mutase (MUT) locus. Genomics 8 (1990) 710-716
27. Nicolaides P., Leonard J., and Surtees R. Neurological outcome of methylmalonic acidaemia. Arch Dis Child 78 (1998) 508-512
28. Ogier De Baulny H., Benoist J.F., Rigal O., Touati G., Rabier D., and Saudubray J.M. Methylmalonic and propionic acidaemias: management and outcome. J Inherit Metab Dis 28 (2005) 415-423
29. Okun J.G., Horster F., Farkas L.M., Feyh P., Hinz A., Sauer S., Hoffmann G.F., Unsicker K., Mayatepek E., and Kölker S. Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. J Biol Chem 277 (2002) 14674-14680
30. Perez B., Desviat L.R., Rodriguez-Pombo P., Clavero S., Navarrete R., Perez-Cerda C., and Ugarte M. Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. Mol Genet Metab 78 (2003) 59-67
31. Sadagopan N., Li W., Roberds S.L., Major T., Preston G.M., Yu Y., and Tones M.A. Circulating succinate is elevated in rodent models of hypertension and metabolic disease. Am J Hypertens 20 (2007) 1209-1215
32. Sauer S.W., Okun J.G., Fricker G., Mähringer A., Müller I., Crnic L.R., Muhlhausen C., Hoffmann G.F., Horster F., Goodman S.I., Harding C.O., Koeller D.M., and Kölker S. Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency. J Neurochem 97 (2006) 899-910
33. Schwab M.A., Sauer S.W., Okun J.G., Nijtmans L.G., Rodenburg R.J., van den Heuvel L.P., Drose S., Brandt U., Hoffmann G.F., Ter L.H., Kölker S., and Smeitink J.A. Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins. Biochem J 398 (2006) 107-112
34. Shevell M.I., Matiaszuk N., Ledley F.D., and Rosenblatt D.S. Varying neurological phenotypes among muto and mut-patients with methylmalonylCoA mutase deficiency. Am J Med Genet 45 (1993) 619-624
35. Suormala T., Wiesmann U.N., Cruz F., Wolf A., Daschner M., Limat A., Fowler B., and Baumgartner E.R. Biotin-dependent carboxylase activities in different CNS and skin-derived cells, and their sensitivity to biotin-depletion. Int J Vitam Nutr Res 72 (2002) 278-286
36. Trinh B.C., Melhem E.R., and Barker P.B. Multi-slice proton MR spectroscopy and diffusion-weighted imaging in methylmalonic acidemia: report of two cases and review of the literature. Am J Neuroradiol 22 (2001) 831-833
37. van der Meer S.B., Poggi F., Spada M., Bonnefont J.P., Ogier H., Hubert P., Depondt E., Rapoport D., Rabier D., Charpentier C., Parvy P., Bardet J., Kamoun P., and Saudubray J.M. Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia. J Pediatr 125 (1994) 903-908
38. Wajner M., and Coelho J.C. Neurological dysfunction in methylmalonic acidaemia is probably related to the inhibitory effect of methylmalonate on brain energy production. J Inherit Metab Dis 20 (1997) 761-768
39. Wilkemeyer M.F., Andrews E.R., and Ledley F.D. Genomic structure of murine methylmalonyl-CoA mutase: evidence for genetic and epigenetic mechanisms determining enzyme activity. Biochem J 296 (1993) 663-670
40. Yang-Feng T.L., Kraus J.P., and Francke U. Gene for the beta-subunit of propionyl CoA carboxylase (PCCB) is located on the long arm of human chromosome 3 (3q133-q22). Cytogenet Cell Genet 40 (1985) 783
41. Yoshizawa F. Regulation of protein synthesis by branched-chain amino acids in vivo. Biochem Biophys Res Commun 313 (2004) 417-422