Efficient mitochondrial import of newly synthesized ornithine transcarbamylase (OTC) and correction of secondary metabolic alterations in spf(ash) mice following gene therapy of OTC deficiency

Molecular Medicine

Volumn 5, Issue 4, 1999, Pages 244-253

  Zimmer, Klaus Peter ^a   Bendiks, Meike ^a   Mori, Masataka ^b   Kominami, Eiki ^c   Robinson, Michael B ^d   Ye, Xuehai ^d   Wilson, James M ^d  

^a Universitätskinderklinik   (Germany)

^b KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

^c JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CARBAMOYL PHOSPHATE SYNTHASE; ORNITHINE CARBAMOYLTRANSFERASE;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; ENZYME SYNTHESIS; GENE THERAPY; GENE TRANSFER; LIVER CELL; LIVER LEVEL; MALE; METABOLIC DISORDER; MITOCHONDRION; MOUSE; MOUSE STRAIN; NONHUMAN; PRIORITY JOURNAL; UREA CYCLE; X CHROMOSOMAL INHERITANCE;

EID: 0033068102     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf03402122     Document Type: Article

References (20)

1. 1. Brusilow SW, Horwich AL. (1996) Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease. Mcgraw-Hill, New York, pp. 1187-1232.
2. 2. Mori M, Morita T, Ikeda F, Amaya Y, Tatibana M, Cohen PP. (1981) Synthesis, intracellular transport, and processing of the precursors for mitochondrial ornithine transcarbamylase and carbamoylphosphate synthetase I in isolated hepatocytes. Proc. Natl. Acad. Sci. U.S.A. 78: 6056-6060.
3. 3. Horwich AL, Kalousek F, Fenton WA, Pollock RA, Rosenberg LE. (1986) Targeting of pre-ornithine transcarbamylase to mitochondria: definition of critical regions and residues in the leader peptide. Cell 44: 451-459.
4. 4. Veres G, Gibbs RA, Scherer SE, Caskey CT. (1987) The molecular basis of the sparse fur mouse mutation. Science 237: 415-417.
5. ash mouse: a missense mutation in the ornithine transcarbamylase gene also causes aberrant mRNA splicing. Proc. Natl. Acad. Sci. U.S.A. 866: 4142-4146.
6. 6. Ye X, Robinson MB, Batshaw ML, Furth EE, Smith I, Wilson JM. (1996) Prolonged metabolic correction in adult ornithine transcarbamylase-deficient mice with adenoviral vectors. J. Biol. Chem. 271: 3639-3646.
7. 7. Ratnakumari L, Qureshi IA, Butterworth RF. (1992) Effects of congenital hyperammonemia on the cerebral and hepatic levels of the intermediates of energy metabolism in spf mice. Biochem. Biophys. Res. Commun. 184: 746-761.
8. 8. Ratnakumari L, Qureshi IA, Butterworth RF. (1993) Effects of L-carnitine on cerebral and hepatic energy metabolites in congenitally hyperam-monemic sparse-fur mice and its role during benzoate therapy. Metabolism 42: 1039-1046.
9. 9. Dubois N, Cavard C, Chasse JF, Kamoun P, Briand P. (1988) Compared expression levels of ornithine transcarbamylase and carbamylphosphate synthetase in liver and small intestine of normal and mutant mice. Biochem. Biophys. Acta 950: 321-328.
10. 10. Bachmann C, Colombo JP. (1988) Increase of tryptophan and 5-hydroxyindole acetic acid in the brain of ornithine carbamoyltransferase deficient sparse-fur mice. Pediatr. Res. 18: 372-375.
11. 11. Cohen N, Cheung CW, Raijman L. (1989) Altered enzyme activities and citrulline synthesis in liver mitochondria from ornithine carbamoyltransferase-deficient sparse-fur ash mice. Biochem. J. 257: 251-257.
12. 12. Lee JT, Nussbaum RL. (1989) An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells. J. Clin. Invest. 84: 1762-1766.
13. 13. Griffiths G. (1993) Fine Structure Immunocytochemistry. Springer-Verlag, Heidelberg.
14. 14. Zimmer KP. (1997) Der intrazelluläre Protein Transport bei Erkrankungen im Kindesalter. Springer-Verlag, Heidelberg.
15. 15. Kanazawa M, Terada K, Kato S, Mori M. (1997) HSDJ, a human homolog of DnaJ, is farnesylated and is involved in protein import into mitochondria. J. Biochem. 121: 890-895.
16. 16. Kominami E, Ezaki J, Muno D, Ishido K, Ueno T, Wolfe LS. (1992) Specific storage of subunit c of mitochondrial ATP synthetase in lysosomes of neuronal ceroid lipofuscinosis (Batten's disease). J. Biochem. III: 278-282.
17. 17. Mori M, Miura S, Tatibana M, Cohen PP. (1981) Cell-free translation of carbamyl phosphate synthetase I and ornithine transcarbamylase messenger RNAs of rat liver. J. Biol. Chem. 256: 4127-4132.
18. 18. Zimmer KP, Matsuda I, Matsuura T, et al. (1995) Ultrastructural, immunocytochemical and stereo-logical investigation of hepatocytes in a patient with the mutation of the ornithine transcarbamylase gene. Eur. J. Cell Biol. 67: 73-83.
19. 19. Wallace R, Knecht E, Grisolia S. (1986) Turnover of rat liver ornithintranscarbamylase. FEBS Lett. 208: 427-430.
20. 20. Raper SE, Wilson JM, Yudkoff N, Robinson MB, Ye X, Batshaw ML. (1998) Developing adenoviral-mediated in vivo gene therapy for ornithine transcarbamylase deficiency. J. Inherit. Metab. Dis. 21 (Suppl. 1): 199-137.