Mitochondrial cytopathies and neuromuscular disorders

Acta Neurologica Belgica

Volumn 100, Issue 3, 2000, Pages 156-161

  Van Coster, R ^a   De Meirleir, L ^a  

^a NONE

Author keywords

Mitochondrial diseases; Mitochondrial DNA; Oxidative phosphorylation; Respiratory chain

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; NUCLEAR PROTEIN;

CYTOCHROME C OXIDASE DEFICIENCY; GENETICS; HUMAN; MITOCHONDRIAL ENCEPHALOMYOPATHY; MUTATION; NEUROMUSCULAR DISEASE; REVIEW;

CYTOCHROME-C OXIDASE DEFICIENCY; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; HUMANS; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; NEUROMUSCULAR DISEASES; NUCLEAR PROTEINS;

EID: 0034279154     PISSN: 03009009     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

1. ANDERSON S., BANKIER A.T., BARREL B.G., DE BRUJIN M. L., COULSON A.R., DROUIN J., EPERON I. C., NIERLICH D. P. ROE B. A., SANGER F. Sequence and organization of the human genome. Nature, 1981, 290 : 457-465.
2. ANDREL A. L., HANNA M. G., REICHMAN H., BRUNO C., PENN A. S., TANJI K., PALLOTI F., IWATA S., BONILLA E., LACH B., MORGAN-HUCHES J., DIMAURO S. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA . N.E.J.M., 1999, 341 : 1037-1041.
3. BOURGERON T., RUSTIN P., CHRETIEN D., BIRCHMACHIN M., BOURGEOIS M., VIEGAS-PEQUIGNOT E., MUNNICH A, ROTIG A. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat. Genet., 1995, 11 : 144-149.
4. BUDDE S. M. S., VAN DEN HEUVEL L. P. W. J., JANSSEN A. J., SMEETS R. J. P., BUSKENS C. A. F., DE MEIRLEIR L., VAN COSTER R., BAETHMANN M., VOIT T., TRUBELS J. M. F., SMEITINK J. A. M. Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. Biochem. Biophys. Res. Commun., 2000, 275 : 63-68
5. DE MEIRLEIR L., SENECA S., LISSENS W., SCHOENTJES E., DESPRECHINS B. Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. Pediatr. Neurol., 1995, 13 : 242-6.
6. DIONISI-VICI C., SENECA S., ZEVIANI M., FARIELLO G., RIMOLDI M., BERTINI E., DE MEIRLEIR L. Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. J. Inherit. Metab. Dis., 1998, 21 : 2-8.
7. DUBEAU F., DE STEFANO N., ZIFKIN B. G., ARNOLD D. L., SHOUBRIDGE E. A. Oxidative phosphorylation defect in the brains of carriers of the tRNA leu A3243G mutation in a MELAS pedigree. Ann. Neurol., 2000, 47 : 179-185.
8. MITOMAP : A Human Mitochondrial Genome Database. Center for Molecular Medicine, Emory University, Atlanta, GA, USA. http://www.gen. emory.edu/mitomap.html, 2000.
9. PAPADOPOULOU L. C., SUE C. M., DAVIDSON M. M., TANJI K., NISHINO I., SADLOCK J.E., KRISHNA S., WALKER W, SELBY J., GLERUM D.M., VAN COSTER R., LYON G., SCALAIS E., LEBEL R., KAPLAN P., SHANSKE S., DE Vivo D. C., BONILLA E., HIRANO M., DIMAURO S., SCHON E. A. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat. Genet., 1999, 23 : 333-337
10. PARFAIT B., CHRETIEN D., ROTIG A., MARSAC C., MUNNICH A., RUSTIN P. Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. Hum. Genet., 2000, 106 : 236-243.
11. POULTON J. Gene table : mitochondrial gene mutations. Eur. J. of Paediatr. Neurol., 1998, 2 : 99-103.
12. SENECA S., ABRAMOWICZ M., LISSENS W., MULLER M. F., VAMOS E., DE MEIRLEIR L. A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis J. Inherit. Metab. Dis., 1996, 19 : 115-8.
13. SENECA S., DE MEIRLEIR L., DE SCHEPPER J., BALDUCK N., JOCHMANS K., LIEBAERS I., LISSENS W. Pearson marrow pancreas syndrome : a molecular study and clinical management. Clin. Genet., 1997, 51 : 338-42.
14. Leu gene in a patient with clinical phenotype resembling Kearns-Sayre syndrome. In press.
15. SHOFNER J. M., LOFT M. T., LEZZA A. M. et al. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochoncrial DNA tRNA (lys) mutation . Cell, 1990, 61 : 931-937.
16. TATUCH Y., CHRTSTODOULOU J., FEIGENBAUM A. et al. Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am. J. Hum. Genet. 1992, 50 : 852-959.
17. SUE C. M., KARADIMAS C., CHECCARELLI N., TANJI K., PAPADOPOULOU L. C., PALLOTTI F., GUO F., SHANSKE S , HIRANO M., DE VIVO D. C., VAN COSTER R., KAPLAN P., BONILLA E., DIMAURO S. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Ann. Neurol., 2000, 47 : 589-595.
18. TIRANTI V., HOERTNAGEL K., CARROZZO R., GALIMBERTI C., MUNARO M., GRANTIERO M., ZELANTE L., GASPARINI P., MARZELLA R., ROCCHI M., BAYONA-BAFALUY M. P., ENRIQUEZ J.-A., UZIEL G., BERTINI E., DIONISI-VICI C., FRANCO B., MEITINGER T, ZEVIANI M. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am. J. Hum. Genet., 1998, 63 : 1609-1621.
19. VAN COSTER R., LOMBES A., DE VIVO D. et al. Cytochrome c oxidase-associated Leigh syndrome : Phenotypic features and pathogenetic speculations. J. Neurol. Sci., 1991, 104 : 97-111.
20. VAN COSTER R., SMET J., DE ME RLEIR L., LISSENS W. Sudden deterioration in a 5-month-old baby with complex II deficiency and homozygous mutation in the 70-kDa flavoprotein gene (Gly555Glu). J. Inherit. Metab. Dis, 2000, 23 (Supplement 1) : A141
21. VLADUTIU G. D., TABONE E., MIRO O., GRAV J. M., CASADEMONT J., ANDREU A. , DIMAURO S., GRIGGS R. C., KARPATI G. Mitochondrial disease in patients with exercise intolerance. N.EJ.M. , 2000, 342 : 438-442
22. WALLACE D. C., SINGH G., LOTI M. T. et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science, 1988, 242 : 1427-1430.
23. ZEVIANI M., ANTOZZI C. Mitochondrial disorders. Mol. Hum. Reprod., 1997, 3 : 133-148.
24. ZHU Z., YAO, J., JOHNS T., FU K., DE BIE I., MACMILLAN C., CUTHBERT A. P., NEWBOLD R. F., WANG J., CHEVRETTE M., BROWN G. K., BROWN R. M., SHOUBRIDGE E A. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nature Genet., 1998, 20 : 337-343.