Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis

Journal of the Neurological Sciences

Volumn 275, Issue 1-2, 2008, Pages 128-132

  Ferreiro Barros, Claudia C ^a,b   Tengan, Célia H ^b   Barros, Mário H ^c   Palenzuela, Lluis ^a   Kanki, Chisaka ^a   Quinzii, Catarina ^a   Lou, Johanna ^a   El Gharaby, Nader ^d   Shokr, Aly ^d   De Vivo, Darryl C ^a   DiMauro, Salvatore ^a   Hirano, Michio ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d Bugshan General Hospital   (Saudi Arabia)

Author keywords

Autosomal recessive; Mitochondria; Mitochondrial disease; Protein synthesis; Respiratory chain

Indexed keywords

CELL NUCLEUS DNA; MITOCHONDRIAL PROTEIN;

ARTICLE; CELL CULTURE; CELL FUSION; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FIBROBLAST; HUMAN; HUMAN CELL; LACTIC ACIDOSIS; NEONATAL MITOCHONDRIAL ENCEPHALONEUROMYOPATHY; NEUROMUSCULAR DISEASE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

CELLS, CULTURED; ELECTRON TRANSPORT COMPLEX IV; FIBROBLASTS; HUMANS; INFANT, NEWBORN; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MITOCHONDRIAL PROTEINS; MULTIENZYME COMPLEXES; SUCCINATE DEHYDROGENASE;

EID: 55649117514     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2008.08.028     Document Type: Article

References (23)

1. DiMauro S., and Hirano M. Mitochondrial encephalomyopathies: an update. Neuromuscul Disord 15 (2005) 276-286
2. Coenen M.J., Antonicka H., Ugalde C., Sasarman F., Rossi R., Heister J.G., et al. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N Engl J Med 351 (2004) 2080-2086
3. Miller C., Saada A., Shaul N., Shabtai N., Ben-Shalom E., Shaag A., et al. Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. Ann Neurol 56 (2004) 734-738
4. Jacobs H.T., and Turnbull D.M. Nuclear genes and mitochondrial translation: a new class of genetic disease. Trends Genet 21 (2005) 312-314
5. King M.P., and Attardi G. Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 246 (1989) 500-503
6. Davidson R.L., and Gerald P.S. Induction of mammalian somatic cell hybridization by polyethylene glycol. Methods Cell Biol 15 (1977) 325-338
7. Birch-Machin M.A., and Turnbull D.M. Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues. Methods Cell Biol 65 (2001) 97-117
8. Taylor R.W., Chinnery P.F., Clark K.M., Lightowlers R.N., and Turnbull D.M. Treatment of mitochondrial disease. J Bioenerg Biomembr 29 (1997) 195-205
9. Lombes A., Nakase H., Tritschler H.J., Kadenbach B., Bonilla E., DeVivo D.C., et al. Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Neurology 41 (1991) 491-498
10. Barrientos A. In vivo and in organello assessment of OXPHOS activities. Methods 26 (2002) 307-316
11. Nijtmans L.G., Henderson N.S., and Holt I.J. Blue native electrophoresis to study mitochondrial and other protein complexes. Methods 26 (2002) 327-334
12. Chomyn A. In vivo labeling and analysis of human mitochondrial translation products. Methods Enzymol 264 (1996) 197-211
13. Rödel G. Translational activator proteins required for cytochrome b synthesis in Saccharomyces cerevisiae. Curr Genet 31 (1997) 375-379
14. Laemmli U.K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227 (1970) 680-685
15. Sambrook J., Fritsch E., and Maniatis T. Molecular cloning. A Laboratory Manual (1989), Cold Spring Harbor Laboratory Press, Cold Spring Harbor
16. Sylvester J.E., Fischel-Ghodsian N., Mougey E.B., and O'Brien T.W. Mitochondrial ribosomal proteins: candidate genes for mitochondrial disease. Genet Med 6 (2004) 73-80
17. Bykhovskaya Y., Casas K., Mengesha E., Inbal A., and Fischel-Ghodsian N. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am J Hum Genet 74 (2004) 1303-1308
18. Smeitink J.A., Elpeleg O., Antonicka H., Diepstra H., Saada A., Smits P., et al. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet 79 (2006) 869-877
19. Valente L., Tiranti V., Marsano R.M., Malfatti E., Fernandez-Vizarra E., Donnini C., et al. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet 80 (2007) 44-58
20. Antonicka H., Sasarman F., Kennaway N.G., and Shoubridge E.A. The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1. Hum Mol Genet 15 (2006) 1835-1846
21. Saada A., Shaag A., Arnon S., Dolfin T., Miller C., Fuchs-Telem D., et al. Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. J Med Genet 44 (2007) 784-786
22. Fernandez-Vizarra E., Berardinelli A., Valente L., Tiranti V., and Zeviani M. Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). J Med Genet 44 (2007) 173-180
23. Rana M., de Coo I., Diaz F., Smeets H., and Moraes C.T. An out-of-frame cytochrome b gene deletion from a patient with parkinsonism is associated with impaired complex III assembly and an increase in free radical production. Ann Neurol 48 (2000) 774-781