Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome

Molecular Genetics and Metabolism

Volumn 84, Issue 4, 2005, Pages 326-331

  Slama, A ^a   Lacroix, C ^a   Plante Bordeneuve, V ^a   Lombes A ^b   Conti, M ^a   Reimund, J M ^c   Auxenfants, E ^d   Crenn, P ^e   Laforet P ^b   Joannard, A ^f   Seguy, D ^g   Pillant, H ^g   Joly, P ^h   Haut, S ^a   Messing, B ^h   Said, G ^a   Legrand, A ^a   Guiochon Mantel, A ^a  

^a BICÊTRE HOSPITAL   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^d CENTRE HOSPITALIER DE ROUBAIX   (France)

^e BICHAT HOSPITAL   (France)

^f GRENOBLE UNIVERSITY HOSPITAL   (France)

^g LILLE UNIVERSITY HOSPITAL   (France)

^h HÔPITAL LARIBOISIÈRE   (France)

Author keywords

Mitochondrial diseases; MNGIE syndrome; Thymidine phosphorylase

Indexed keywords

MITOCHONDRIAL DNA; THYMIDINE; THYMIDINE PHOSPHORYLASE;

ADOLESCENT; ADULT; ARTICLE; BLOOD LEVEL; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; ENZYME ACTIVITY; GENE DELETION; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTESTINE PSEUDOOBSTRUCTION; MNGIE SYNDROME; PHENOTYPE; PRIORITY JOURNAL; URINE LEVEL;

EID: 20144384725     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.12.004     Document Type: Article

References (21)

1. S. DiMauro, and E.A. Schon Mitochondrial DNA mutations in human disease Am. J. Med. Genet. 106 2001 18 26
2. A. Munnich, and P. Rustin Clinical spectrum and diagnosis of mitochondrial disorders Am. J. Med. Genet. 106 2001 4 17
3. J.V. Leonard, and A.H. Schapira Mitochondrial respiratory chain disorders. I-Mitochondrial DNA defects Lancet 355 2000 299 304
4. J.V. Leonard, and A.H. Schapira Mitochondrial respiratory chain disorders. II-Neurodegenerative disorders and nuclear gene defects Lancet 355 2000 389 394
5. J.W. Taanmann The mitochondrial genome: structure, transcription, transduction and replication Biochim. Biophys. Acta 1410 1999 103 123
6. A. Papadimitriou, G.P. Comi, G.M. Hadjigeorgiou, A. Bordoni, M. Sciacco, L. Napoli, A. Prelle, M. Moggio, G. Fagiolari, N. Bresolin, S. Salani, I. Anastasopoulos, G. Giassakis, R. Divari, and G. Scarlato Partial depletion and multiple deletions of mtDNA in familial MNGIE syndrome Neurology 51 1998 1086 1092
7. L.T. Simon, D.S. Horoupian, L.J. Dorfman, M. Marks, M.K. Herrick, P. Wasserstein, and M.E. Smith Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction: POLIP syndrome Ann. Neurol. 28 1990 349 360
8. V. Li, J. Hostein, N.B. Romero, C. Marsac, P. Mezin, R. Bost, F. Degoul, M. Fardeau, and J. Fournet Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia: a muscular biochemical study of a mitochondrial disorder Dig. Dis. Sci. 37 1992 456 463
9. M. Hirano, G. Silvestri, D.M. Blake, A. Lombès, C. Minetti, E. Bonilla, A.P. Hays, R.E. Lovelace, I. Butler, T.E. Bertorini, A.B. Threlkeld, H. Mitsumoto, L.M. Salberg, L.P. Rowland, and S. DiMauro Mitochondrial neurogastrointestinal encephalomyopathy, (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder Neurology 44 1994 721 727
10. M. Debouverie, M. Wagner, X. Ducrocq, Y. Grignon, B. Mousson, and M. Weber Le MNGIE syndrome: deux cas dans une même fratrie Rev. Neurol. (Paris) 10 1997 547 553
11. P. Labauge, R. Durant, G. Castelnovo, and A. Dubois MNGIE: diarrhea and leukoencephalopathy Neurology 58 2002 1862
12. M. Hirano, J. Garcia-de-Yebenes, A.C. Jones, I. Nichino, S. DiMauro, J.R. Carlo, A.N. Bender, A.F. Hahn, L.M. Salberg, D.E. Weeks, and T.G. Nygaard Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter Am. J. Hum. Genet. 63 1998 526 533
13. K. Hagiwara, G. Stenman, H. Honda, P. Sahlin, A. Andersson, K. Miyazono, C.H. Heldin, F. Ishikawa, and F. Takaku Organization and chromosomal localization of the human platelet-derived endothelial cell growth factor gene Mol. Cell. Biol. 11 1991 2125 2132
14. I. Nischino, A. Spinazzola, and M. Hirano Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder Science 283 1999 689 692
15. N.S. Brown, and R. Bicknell Thymidine phosphorylase, 2-desoxy-d-ribose and angiogenesis Biochem. J. 334 1998 1 8
16. I. Nischino, A. Spinazzola, A. Papadimitriou, S. Hammans, I. Steiner, C.D. Hahn, A.M. Connolly, A. Verloes, J. Guimarães, I. Maillard, H. Hamano, M.A. Donati, C.E. Semrad, J.A. Russell, A.L. Andreu, G.M. Hadjigeorgiou, T.H. Vu, S. Tadesse, T.G. Nygaard, I. Nonaka, I. Hirano, E. Bonilla, L.P. Rowland, S. DiMauro, and M. Hirano Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations Ann. Neurol. 47 2000 792 800
17. J. Gamez, C. Ferreiro, M.L. Accarino, L. Guarner, S. Tadesse, R.A. Marti, A.L. Andreu, N. Raguer, C. Cervera, and M. Hirano Phenotypic variability in a Spanish family with MNGIE Neurology 59 2002 455 457
18. 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 50 56
19. P. Rustin, D. Chretien, B. Gerard, T. Bourgeron, A. Rötig, J.M. Saudubray, and A. Munnich Biochemical and molecular investigations in respiratory chain deficiencies Clin. Chim. Acta 228 1994 35 51
20. M.M. Bradford A rapid and sensitive method for the quantitation of microgram quantities of protein utilising the principle of protein-dye binding Anal. Biochem. 72 1976 248 254
21. C. Barthelemy, H. Ogier de Baulny, J. Diaz, M.A. Cheval, P. Frachon, N. Romero, F. Goutières, M. Fardeau, and A. Lombès Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation Ann. Neurol. 49 2001 607 617