Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE);Mitochondriální neurogastrointestinální encefalomyopatie (syndrom MNGIE)

Casopis Lekaru Ceskych

Volumn 145, Issue 8, 2006, Pages 665-670

  Honzik T ^a   Tesarova M ^a   Hansikova H ^a   Krijt, J ^b   Benes P ^c   Zamecnik J ^d   Wenchich, L ^a   Zeman, Jiří ^a,b,e  

^a CHARLES UNIVERSITY   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c Odd lení Kardiologie Nemocnice Na Homolce   (Czech Republic)

^d UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^e NONE   (Czech Republic)

Author keywords

ECGF1; Gastrointestinal dysmotility; MNGIE; Thymidine; Thymidine phosphorylase

Indexed keywords

CYTOCHROME C OXIDASE; DEOXYURIDINE; MITOCHONDRIAL DNA; THYMIDINE; THYMIDINE PHOSPHORYLASE;

ADULT; ARTICLE; CASE REPORT; CELL ISOLATION; CONTROLLED STUDY; ENZYME ACTIVITY; EXTERNAL OPHTHALMOPLEGIA; FAILURE TO THRIVE; GASTROINTESTINAL MOTILITY DISORDER; HETEROZYGOSITY; HISTOCHEMISTRY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LEUKOENCEPHALOPATHY; LYMPHOCYTE; MALE; MNGIE SYNDROME; MUSCLE BIOPSY; MUSCLE MITOCHONDRION; NUCLEOTIDE SEQUENCE; PERIPHERAL NEUROPATHY; RESPIRATORY CHAIN; SPECTROPHOTOMETRY;

EID: 33750386270     PISSN: 00087335     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (41)

1. Okamura, K., Santa, T., Nagae, K. et al.: Congenital oculoskeletal myopathy with abnormal muscle and liver mitochondria. J. Neurol. Sci., 1976, 27, s. 79-91.
2. Anuras, S., Mitros, F., Nowak, T. et al.: A familial visceral myopathy with external ophthalmoplegia and autosomal recessive transmission. Gastroenterology, 1983, 84, s. 346-353.
3. Bardosi, A., Creutzfeldt, W., DiMauro, S. et al.: Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol. (Berl.), 1987, 74, s. 248-258.
4. Simon, L. T., Horoupian, D. S., Dorfman, L. J. et al.: Polyneuropathy, ophthalmoplegia, leukoencepholopathy and intestinal psudo-obstruction. POLIP syndrome. Ann. Neurol., 1990, 28, s. 349-360.
5. Rowland, L. P.: Progressive external ophthalmoplegia. Handbook Clin. Neurol., 1992, s. 287-329.
6. Hirano, M., Silvestri, G., Blake, D. M. et al.: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorders. Neurology, 1994, 44, s. 721-727.
7. Morris, G. S., Simmonds, H. A.: Use of a fundamental elution protocol for the development of reversed-phase high-performance liquid chromatography enabling rapid simultaneous determination of purines, pyrimidines and allied compounds commonly found in human biological fluids. J. Chromatogr., 1985, 344, s. 101-113.
8. Marti, R., Spinazzola, A., Tadesse, S. et al.: Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays. Clin. Chem., 2004, 50, s. 120-124.
9. Rustin, P., Chretien, D., Bourgeron, T. et al.: Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta, 1994, 228. s. 35-51.
10. Makinen M., Lee, C. P.: Biochemical studies of skeletal muscle mitochondria. I. Microanalysis of cytochrome content, oxidative and phosphorylative activities of mammalian skeletal muscle mitochondria. Arch. Biochem. Biophys., 1968, 126, s. 75-82.
11. Kunz, W. S., Kuznetsov, A. V., Schulze, W. et al.: Functional characterization of mitochondrial oxidative phosphorylation in saponine-skinned human muscle fibers. Biochim. Biophys. Acta, 1993, 144, s. 46-53.
12. Sperl, W., Skladal, D., Lanznaster, A. et al.: Polarographic studies of saponin-skinned muscle fibres in patients with mitochondrial myopathies. J. Inher. Metab. Dis., 1994, 17, s. 307-310.
13. Spinazzola, A., Marti, R., Nishino, I. et al.: Altered thymidine metabolism due to defects of thymidine phosphorylase. J. Biol. Chem., 2002, 277, s. 4128-4133.
14. Lowry, O. H., Rosebrough, N. J., Farr, A. L., Randall, R. J.: Protein measurement with the Folin phenol reagent. J. Biol. Chem., 1951, 193, s. 265-275.
15. Slama, A., Lacroix, C., Plante-Bordeneuve, V. et al.: Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome. Mol. Genet Metab., 2005, 84, s. 326-331.
16. Kajander, O. A., Kunnas, T. A., Perola, M. et al.: Long-extension PCR to detect deleted mitochondrial DNA molecules is compromized by technical artefacts. Biochem. Biophys. Res. Commun., 1999, 254, s. 507-514.
17. DiMauro, S., Bonilla, E., Davidson, M. et al.: Mitochondria in neuromuscular disorders. Biochim. Biophys. Acta, 1998, 1366, s.199-210.
18. Schaefer, A., Blakely, E., Hayes, C. et al.: Mitochondrial disease: new prevalence figures with major resource implications. BBA, Euromit 6, abstract book, 2004, s. 34.
19. Leonard, J. V., Schapira, H. A.: Mitochondrial respiratory chain disorders. I- Mitochondrial DNA defects. Lancet, 2000, 355, s. 299-304.
20. Leonard, J. V., Schapira, H. A.: Mitochondrial respiratory chain disorders. II- Neurodegenerative disorders and nuclear gene defects. Lancet, 2000, 355, s. 389-394.
21. Taanmann, J. W.: The mitochondrial genome: structure, transcription, transduction and replication. Biochem. Biophys. Acta, 1999, 1410, s. 103-123.
22. Hirano, M., Martí, R., Spinazzola, A. et al.: Thymidine phosphorylase deficiency causes MNGIE: An autosomal recessive mitochondrial disorder. Nucleosides, nucleotides and nucleic acids, 2004, 23, s. 1217-1225.
23. Spinazzola, A., Zeviani, M.: Disorders of nuclear-mitochondrial intergenomic signaling. Gene, 2005, 354, s. 576-582.
24. Teitelbaum, J. E., Berde, C. B., Nurko, S. et al.: Diagnosis and management of MNGIE syndrome in children: Case report and review of the literature. JPGN, 2002, 35, s. 377-383.
25. Hirano, M., Nishigaki, Y., Martí, R.: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): A disease of two genomes. The Neurologist, 2004, 10, s. 8-17.
26. Martín, M. A., Blázquez, A., Martí, R. et al.: Lack of gastrointestinal symptoms in a 60-years-old patient with MNGIE. Neurology, 2004, 2, s. 1536-1537.
27. Gamez, J., Ferreiro, C., Accarino, M. L. et al.: Phenotypic variability in a Spanish family with MNGIE. Neurology, 2002, 59, s. 455-457.
28. Simon, L. T., Horoupian, D. S., Dorfman, L. J. et al.: Polyneuropathy, ophthalmoplegia, leukoencepholopathy and intestinal psudo-obstruction. POLIP syndrome. Ann. Neurol., 1990, 28, s. 349-360.
29. Perez-Atayde, A. R., Fox, V., Teitelbaum, J. E. et al.: Mitochondrial neurogastrointestinal encephalomyopathy. Diagnosis by rectal biopsy. Am. J. Surg. Pathol., 1998, 22, s. 1141-1147.
30. Hirano, M., Silvestri, G., Blake, D. M. et al.: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorders. Neurology, 1994, 44, s. 721-727.
31. Krishnamurthy, S., Kelly, M. M., Rohrmann, C. A., Schuffler, M. D.: Jejunal diverticulosis: heterogeneous disorder caused by a variety of abnormalities of smooth muscle or myenteric plexus. Gastroenterology, 1983, 85, s. 538-547.
32. Barboni, P., Savini, G., Plazzi, G. et al.: Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report. Graefe's Arch. Clin. Exp. Ophthalmol., 2004, 242, s. 878-880.
33. Nashino, I., Spinazzola, A., Papadimitriou, A. et al.: Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann. Neurol., 2000, 47, s. 792-800.
34. Taylor, R. W., Birch-Machin, M. A., Schaefer, J. et al.: Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxie. Ann. Neurol., 1996, 39, s. 224-232.
35. Nishino, I., Spinazzola, A., Hirano, M.: MNGIE: from nuclear DNA to mitochondrial DNA. Neuromuscul. Disord., 2001, 11, s. 7-10.
36. Said, G., Lacroix, C., Planté-Bordeneuve, V. et al.: Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation. J. Neurol., 2005, 252, s. 655-662.
37. Peker, S., Pamir, M. N.: Trigeminal neuralgia in a patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). J. Clin. Neuroscience, 2005, 12, s. 172-174.
38. Hirano, M., Lagier-Tourenne, C., Valentino, L. M. et al.: Thymidine phosphorylase mutations cause instability of mitochondrial DNA. Gene, 2005, 354, s. 152-156.
39. Nishigaki, Y., Martí, R., Copeland, W. C., Hirano, M.: Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. J. Clin. Invest., 2003, 111, s. 1913-1922.
40. Ferraro, P., Pontarin, G., Crocco, L. et al.: Mitochondrial deoxynucleotide pools in quiescent fibroblasts. J. Biol. Chem., 2005, 280, s. 24472-24480.
41. Spinazzola, A., Martí, R., Nishino, I. et al.: Altered thymidine metabolism due to defects of thymidine phosphorylase. J. Biol. Chem., 2002, 277, s. 4128-4133.