Thymidine phosphorylase mutations cause instability of mitochondrial DNA

Gene

Volumn 354, Issue 1-2 SPEC. ISS., 2005, Pages 152-156

  Hirano, Michio ^a   Lagier Tourenne, Clotilde ^a   Valentino, Maria L ^a   Martí, Ramon ^a,b   Nishigaki, Yutaka ^a,c  

^a College of Physicians and Surgeons ^*  (United States)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Mitochondrial DNA; MNGIE; Nucleoside; Nucleotide; Thymidine phosphorylase

Indexed keywords

DEOXYURIDINE; MITOCHONDRIAL DNA; THYMIDINE; THYMIDINE PHOSPHORYLASE;

AUTOSOMAL RECESSIVE DISORDER; CACHEXIA; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CONFERENCE PAPER; CONTROLLED STUDY; DIGESTIVE SYSTEM FUNCTION DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; ENZYME DEFECT; GENE DELETION; GENE MUTATION; GENETIC STABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOTHESIS; LEUKOENCEPHALOPATHY; MITOCHONDRIAL DNA DEPLETION; MNGIE SYNDROME; MORPHOLOGY; MUSCLE BIOPSY; PERIPHERAL NEUROPATHY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PTOSIS; RESPIRATORY CHAIN;

DEOXYURIDINE; DNA, MITOCHONDRIAL; HUMANS; KIDNEY; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MODELS, BIOLOGICAL; MUTATION; THYMIDINE; THYMIDINE PHOSPHORYLASE;

EID: 23644432014     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gene.2005.04.041     Document Type: Conference Paper

References (40)

1. N.S. Brown, and R. Bicknell Thymidine phosphorylase, 2-deoxy-D-ribose and angiogenesis Biochem. J. 334 1998 1 8
2. N.E. Buroker Length heteroplasmy of sturgeon mitochondrial DNA: an illegitimate elongation model Genetics 124 1990 157 163
3. R. Carrozzo Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses Neurology 50 1998 99 106
4. D.L. Croteau, R.H. Stierum, and V.A. Bohr Mitochondrial DNA repair pathways Mutat. Res. 434 1999 137 148
5. S. DiMauro, and E.A. Schon Mitochondrial respiratory-chain diseases N. Engl. J. Med. 348 2003 2656 2668
6. A.R. Fersht Fidelity of replication of phage phi X174 DNA by DNA polymerase III holoenzyme: spontaneous mutation by misincorporation Proc. Natl. Acad. Sci. U. S. A. 76 1979 4946 4950
7. F. Focher, and S. Spadari Thymidine phosphorylase: a two-faced Janus in anticancer chemotherapy Curr. Cancer Drug Targets 1 2001 139 151
8. S.B. Fox Platelet-derived endothelial cell growth factor/thymidine phosphorylase expression in normal tissue: an immunohistochemical study J. Pathol. 176 1995 183 190
9. J. Gamez Phenotypic variability in a Spanish family with MNGIE Neurology 59 2002 455 457
10. J. Gamez A novel thymidine phosphorylase mutation in a Spanish MNGIE patient J. Neurol. Sci. 228 2005 35 39
11. M. Hirano Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder Neurology 44 1994 721 727
12. M. Hirano Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome maps to chromosome 22q13.32-qter Am. J. Hum. Genet. 63 1998 526 533
13. M. Hirano Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA Semin. Cell. Dev. Biol. 12 2001 417 427
14. M. Hirano, R. Martí, M.R. Vila, and Y. Nishigaki MtDNA maintenance and stability genes: MNGIE and mtDNA depletion syndromes C. Köhler M.F. Bauer Mitochondrial Function and Biogenetics 2004 Springer-Verlag Berlin 177 200
15. M. Hirano, Y. Nishigaki, and R. Martí MNGIE: a disease of two genomes Neurologist 10 2004 8 17
16. A.A. Johnson, and K.A. Johnson Fidelity of nucleotide incorporation by human mitochondrial DNA polymerase J. Biol. Chem. 276 2001 38090 38096
17. Y.C. Kocaefe, S. Erdem, M. Ozguc, and E. Tan Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients Eur. J. Hum. Genet. 11 2003 102 104
18. T.A. Kunkel, and A. Soni Mutagenesis by transient misalignment J. Biol. Chem. 263 1988 14784 14789
19. S.E. Lim, and W.C. Copeland Differential incorporation and removal of antiviral deoxynucleotides by human DNA polymerase gamma J. Biol. Chem. 276 2001 23616 23623
20. M.J. Longley, D. Nguyen, T.A. Kunkel, and W.C. Copeland The fidelity of human DNA polymerase gamma with and without exonucleolytic proofreading and the p55 accessory subunit J. Biol. Chem. 276 2001 38555 38562
21. R. Martí, Y. Nishigaki, and M. Hirano Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency Biochem. Biophys. Res. Commun. 303 2003 14 18
22. R. Marti, A. Spinazzola, S. Tadesse, I. Nishino, Y. Nishigaki, and M. Hirano Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays Clin. Chem. 50 2004 120 124
23. M.A. Martin Lack of gastrointestinal symptoms in a 60 year-old patient with MNGIE Neurology 63 2004 1536 1537
24. K. Matsukawa, A. Moriyama, Y. Kawai, K. Asai, and T. Kato Tissue distribution of human gliostatin/platelet-derived endothelial cell growth factor (PD-ECGF) and its drug-induced expression Biochim. Biophys. Acta 1314 1996 71 82
25. C.T. Moraes MtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases Am. J. Hum. Genet. 48 1991 492 501
26. Y. Nishigaki, R. Marti, W.C. Copeland, and M. Hirano Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency J. Clin. Invest. 111 2003 1913 1921
27. Y. Nishigaki, R. Martí, and M. Hirano ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy Hum. Mol. Genet. 13 2004 91 101
28. I. Nishino, A. Spinazzola, and M. Hirano Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder Science 283 1999 689 692
29. I. Nishino MNGIE: an autosomal recessive disorder due to thymidine phosphorylase mutations Ann. Neurol. 47 2000 792 800
30. A. Papadimitriou Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome Neurology 51 1998 1086 1092
31. G. Phear, J. Nalbantoglu, and M. Meuth Next-nucleotide effects in mutations driven by DNA precursor pool imbalances at the aprt locus of Chinese hamster ovary cells Proc. Natl. Acad. Sci. U. S. A. 84 1987 4450 4454
32. E.A. Schon, R. Rizzuto, C.T. Moraes, H. Nakase, M. Zeviani, and S. DiMauro A direct repeat is a hotspot for large scale deletions of human mitochondrial DNA Science 244 1989 346 349
33. J.M. Shoffner, M.T. Lott, A.S. Voljavec, S.A. Soueidan, D.A. Costigan, and D.C. Wallace Spontaneus Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mtDNA deletion: a slip-replication model and metabolic therapy Proc. Natl. Acad. Sci. 86 1989 7952 7956
34. S. Song, L.J. Wheeler, and C.K. Mathews Deoxyribonucleotide pool imbalance stimulates deletions in HeLa cell mitochondrial DNA J. Biol. Chem. 278 2003 43893 43896
35. A. Spinazzola Altered thymidine metabolism due to defects of thymidine phosphorylase J. Biol. Chem. 277 2002 4128 4133
36. K. Szigeti MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation J. Med. Genet. 41 2004 125 129
37. J. Waltenberger, K. Usuki, B. Fellstrom, K. Funa, and C.H. Heldin Platelet-derived endothelial cell growth factor. Pharmacokinetics, organ distribution and degradation after intravenous administration in rats FEBS Lett. 313 1992 129 132
38. A. Yoshimura, Y. Kuwazuru, T. Furukawa, H. Yoshida, K. Yamada, and S. Akiyama Purification and tissue distribution of human thymidine phosphorylase; high expression in lymphocytes, reticulocytes and tumors Biochim. Biophys. Acta 1034 1990 107 113
39. M. Zeviani Nucleus-driven mutations of human mitochondrial DNA J. Inherit. Metab. Dis. 15 1992 456 471
40. M. Zeviani, S. Servidei, C. Gellera, R. Bertini, S. DiMauro, and S. DiDonato An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region Nature 339 1989 309 311