Mitochodrial neurogastrointestinal encephalomyopathy and thymidine metabolism: Results and hypotheses

Mitochondrion

Volumn 2, Issue 1-2, 2002, Pages 143-147

  Marti, Ramon ^a   Spinazzola, Antonella ^a   Nishino, Ichizo ^a   Andreu, Antonio L ^a   Naini, Ali ^a   Tadesse, Saba ^a   Oliver, Juan A ^a   Hirano, Michio ^a  

^a PandS 4 443 ^*  (United States)

Author keywords

Depletion; Mitochondria; Mitochondrial DNA; Multiple deletions; Nucleotide pool; Thymidine phosphorylase

Indexed keywords

CYTOCHROME C OXIDASE; DEOXYRIBONUCLEOSIDE TRIPHOSPHATE; MITOCHONDRIAL DNA; THYMIDINE; THYMIDINE PHOSPHORYLASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CACHEXIA; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA REPLICATION; ENZYME DEFICIENCY; ENZYME METABOLISM; GASTROINTESTINAL SYMPTOM; GENE DELETION; GENE MUTATION; GENETIC CODE; HUMAN; LEUKOENCEPHALOPATHY; MNGIE SYNDROME; NUCLEIC ACID METABOLISM; OPHTHALMOPLEGIA; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PTOSIS; SKELETAL MUSCLE;

EID: 0036838783     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1567-7249(02)00036-3     Document Type: Review

References (33)

1. Arnaudo, E., Dalakas, M.C., Shanske, S., Moraes, C.T., DiMauro, S., Schon, E.A., 1991. Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy. Lancet 337, 508-510.
2. Arneér, E.S.J., Eriksson, S., 1995. Mammalian deoxynucleoside kinases. Pharmacol. Ther. 67, 155-186.
3. Arpaia, E., Benveniste, P., Di Cristofano, A., et al., 2000. Mitochondrial basis for immune deficiency. Evidence from purine nucleoside phosphorylase-deficient mice. J. Exp. Med. 191, 2197-2208.
4. Bardosi, A., Creutzfeldt,W., DiMauro, S., et al., 1987. Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multi-system disorder. Acta Neuropathol. (Berl.) 74, 248-258.
5. Berk, A.J., Clayton, D.A., 1973. A genetically distinct thymidine kinase in mammalian mitochondrial. Exclusive labeling of mitochondrial deoxyribonucleic acid. J. Biol. Chem. 248, 2722-2729.
6. Bestwick, R.K., Mathews, C.K., 1982. Unusual compartment of precursors for nuclear and mitochondrial DNA in mouse L cells. J. Biol. Chem. 257, 9305-9308.
7. Bestwick, R.K., Moffett, G.L., Mathews, C.K., 1982. Selective expansion of mitochondrial nucleoside triphosphate pools in antimetabolite-treated HeLa cells. J. Biol. Chem. 257, 9300-9304.
8. Bogenhagen, D., Clayton, D.A., 1976. Thymidylate nucleotide supply for mitochondrial DNA synthesis in mouse L-cells. J. Biol. Chem. 249, 2938-2944.
9. Bourgeron, T., Rustin, P., Chretien, D., et al., 1995. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat. Genet. 11, 144-149.
10. Brahams, D., 1994. Deaths in US fialuridine trial. Lancet 343, 1494-1495.
11. Cui, L., Toon, S., Shininazi, R.F., Sommadossi, J.-P., 1995. Cellular and molecular events leading to mitochondrial toxicity of 1-[2′-deoxy-2′-fluoro-β- -arabinofuranosyl]-5-iodouracil in human liver cells. J. Clin. Invest. 95, 555-563.
12. Dalakas, M.C., Illa, I., Pezeshkpour, G.H., Laukaitis, J.P., Cohen, B., Griffin, J.L., 1990. Mitochondrial myopathy caused by long-term zidovudine therapy. N. Engl. J. Med. 322, 1098-1105.
13. DiMauro, S., 1999. Mitochondrial encephalomyopathies: back to mendelian genetics. Ann. Neurol. 45, 693-694.
14. Fox, S.B., Moghaddam, A., Westwood, M., et al., 1995. Platelet-derived endothelial cell growth factor/thymidine phosphorylase expression in normal tissue: an immunohistochemical study. J. Pathol. 176, 183-190.
15. Gutierrez, M.M., Brett, C.M., Ott, R.J., Hui, A.C., Giacomini, K.M., 1992. Nucleoside transport in brush border membrane vesicles from human kidney. Biochim. Biophys. Acta 1105, 1-9.
16. Hirano, M., Silvestri, G., Blake, D.M., et al., 1994. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder. Neurology 44, 721-727.
17. Hirano, M., Vu, T.H., 2000. Defects of intergenomic communication: where do we stand? Brain Pathol. 10, 451-461.
18. Hirano,M.,Yebenes, J., Jones,A.C., et al., 1998. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome maps to chromosome 22q13.32-qter. Am. J. Hum. Genet. 63, 526-533.
19. Johansson, M., Karlsson, A., 1997. Cloning of the cDNA and chromosomal localization of the gene for human thymidine kinase 2. J. Biol. Chem. 13, 8454-8458.
20. Kaukonen, J., Juselius, J.K., Tiranti, V., et al., 2000. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 289, 782-785.
21. Kubilus, J., Lee, L.D., Baden, H.P., 1978. Purification of thymidine phosphorylase from human amniochorion. Biochim. Biophys. Acta 527, 221-228.
22. Lewis, W., Dalakas, M.C., 1995. Mitochondrial toxicity of antiviral drugs. Nat. Med. 1, 417-422.
23. Mandel, H., Szargel, R., Labay, V., et al., 2001. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat. Genet. 29, 337-341.
24. Matsukawa, K., Moriyama, A., Kawai, Y., Asai, K., Kato, T., 1996. Tissue distribution of human gliostatin/platelet-derived endothelial cell growth factor (PD-ECGF) and its drug-induced expression. Biochim. Biophys. Acta 1314, 71-82.
25. Miyazono, K., Heldin, C.H., 1989. High-yield purification of platelet-derived endothelial cell growth factor: structural characterization and establishment of a specific antiserum. Biochemistry 28, 1704-1710.
26. Nishino, I., Spinazzola, A., Hirano, M., 1999. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283, 689-692.
27. Papadimitriou, A., Comi, G.P., Hadjigeorgiou, G.M., et al., 1998. Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome. Neurology 51, 1086-1092.
28. Rampazzo, C., Gallinaro, L., Milanesi, E., Frigimelica, E., Reichard, P., Bianchi, V., 2000. A deoxyribonucleotidase in mitochondria: involvement in regulation of dNTP pools and possible link to genetic disease. Proc. Natl Acad. Sci. USA 97, 8239-8244.
29. Saada, A., Shaag, A., Mandel, H., Nevo, Y., Eriksson, S., Elpeleg, O., 2001. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat. Genet. 29, 342-344.
30. Servidei, S., 2001. Mitochondrial encephalomyopathies: gene mutation. Neuromuscul. Disord. 11, 230-235.
31. Spinazzola, A., Marti, R., Nishino, I., et al., 2002. Altered thymidine metabolism due to defects of thymidine phosphorylase. J. Biol. Chem. 277, 4128-4133.
32. Usuki, K., Saras, J., Waltenberger, J., et al., 1992. Platelet-derived endothelial cell growth factor has thymidine phosphorylase activity. Biochem. Biophys. Res. Commun. 184, 1311-1316.
33. Yoshimura, A., Kuwazuru, Y., Furukawa, T., Yoshida, H., Yamada, K., Akiyama, S., 1990. Purification and tissue distribution of human thymidine phosphorylase; high expression in lymphocytes, reticulocytes and tumors. Biochim. Biophys. Acta 1034, 107-113.