Toward genotype phenotype correlations in GFM1 mutations

Mitochondrion

Volumn 12, Issue 2, 2012, Pages 242-247

  Galmiche, Louise ^a,b,c,d   Serre, Valérie ^a,b,c,d   Beinat, Marine ^a,b,c,d   Zossou, Raïssa ^a,b,c,d   Assouline, Zahra ^a,b,c,d   Lebre, Anne Sophie ^a,b,c,d   Chretien, Florence ^a,b,c,d   Shenhav, Ruthie ^a,b,c,d   Zeharia, Avraham ^a,b,c,d   Saada, Ann ^a,b,c,d   Vedrenne, Vanessa ^a,b,c,d   Boddaert, Nathalie ^a,b,c,d   de Lonlay, Pascale ^a,b,c,d   Rio, Marlène ^a,b,c,d   Munnich, Arnold ^a,b,c,d   Rötig, Agnès ^a,b,c,d  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b RABIN MEDICAL CENTER   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Encephalopathy; GFM1 translation elongation factor; Hepatic failure; Mitochondrial translation

Indexed keywords

MITOCHONDRIAL PROTEIN; PROTEIN EFG1; UNCLASSIFIED DRUG;

ARTICLE; BRAIN ATROPHY; BRAIN MALFORMATION; CASE REPORT; CEREBELLUM VERMIS; CLINICAL FEATURE; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; GFM1 GENE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPOGLYCEMIA; INTRAUTERINE GROWTH RETARDATION; LIVER FAILURE; MALE; MOTOR NEUROPATHY; MUTATIONAL ANALYSIS; MUTATOR GENE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN STRUCTURE; RESPIRATORY CHAIN; SEIZURE; SENSORY NEUROPATHY; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STRUCTURE ANALYSIS;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BRAIN; BRAIN DAMAGE, CHRONIC; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; LIVER FAILURE; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MODELS, MOLECULAR; MOLECULAR DYNAMICS SIMULATION; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION, MISSENSE; PEPTIDE ELONGATION FACTOR G; PREGNANCY; SEQUENCE ANALYSIS, DNA;

EID: 84858008885     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2011.09.007     Document Type: Article

References (24)

1. Antonicka H., Sasarman F., Kennaway N.G., 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. 2006, 15(11):1835-1846.
2. Antonicka H., Ostergaard E., Sasarman F., Weraarpachai W., Wibrand F., Pedersen A.M., Rodenburg R.J., van der Knaap M.S., Smeitink J.A., Chrzanowska-Lightowlers Z.M., Shoubridge E.A. Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. Am. J. Hum. Genet. 2010, 87(1):115-122.
3. Belostotsky R., Ben-Shalom E., Rinat C., Becker-Cohen R., Feinstein S., Zeligson S., Segel R., Elpeleg O., Nassar S., Frishberg Y. Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. Am. J. Hum. Genet. 2011, 88(2):193-200.
4. Boulet L., Karpati G., Shoubridge E.A. Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am. J. Hum. Genet. 1992, 51(6):1187-1200.
5. Bykhovskaya Y., Casas K., Mengesha E., Inbal A., Fischel-Ghodsian N. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am. J. Hum. Genet. 2004, 74(6):1303-1308.
6. Coenen M.J., Antonicka H., Ugalde C., Sasarman F., Rossi R., Heister J.G., Newbold R.F., Trijbels F.J., van den Heuvel L.P., Shoubridge E.A., Smeitink J.A. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N. Engl. J. Med. 2004, 351(20):2080-2086.
7. Czworkowski J., Wang J., Steitz T.A., Moore P.B. The crystal structure of elongation factor G complexed with GDP, at 2.7A resolution. EMBO J. 1994, 13(16):3661-3668.
8. Edvardson S., Shaag A., Kolesnikova O., Gomori J.M., Tarassov I., Einbinder T., Saada A., Elpeleg O. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am. J. Hum. Genet. 2007, 81(4):857-862.
9. Guex N., Peitsch M.C. SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis 1997, 18(15):2714-2723.
10. Houtkooper R.H., Turkenburg M., Poll-The B.T., Karall D., Perez-Cerda C., Morrone A., Malvagia S., Wanders R.J., Kulik W., Vaz F.M. The enigmatic role of tafazzin in cardiolipin metabolism. Biochim. Biophys. Acta 2009, 1788(10):2003-2014.
11. Jacobs H.T., Turnbull D.M. Nuclear genes and mitochondrial translation: a new class of genetic disease. Trends Genet. 2005, 21(6):312-314.
12. Miller C., Saada A., Shaul N., Shabtai N., Ben-Shalom E., Shaag A., Hershkovitz E., Elpeleg O. Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. Ann. Neurol. 2004, 56(5):734-738.
13. Nechifor R., Wilson K.S. Crosslinking of translation factor EF-G to proteins of the bacterial ribosome before and after translocation. J. Mol. Biol. 2007, 368(5):1412-1425.
14. Nijtmans L.G., Henderson N.S., Holt I.J. Blue native electrophoresis to study mitochondrial and other protein complexes. Methods 2002, 26(4):327-334.
15. Pierce S.B., Chisholm K.M., Lynch E.D., Lee M.K., Walsh T., Opitz J.M., Li W., Klevit R.E., King M.C. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc. Natl. Acad. Sci. U. S. A. 2011.
16. Riley L.G., Cooper S., Hickey P., Rudinger-Thirion J., McKenzie M., Compton A., Lim S.C., Thorburn D., Ryan M.T., Giege R., Bahlo M., Christodoulou J. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia-MLASA syndrome. Am. J. Hum. Genet. 2010, 87(1):52-59.
17. Ruiz-Pesini E., Lott M.T., Procaccio V., Poole J.C., Brandon M.C., Mishmar D., Yi C., Kreuziger J., Baldi P., Wallace D.C. An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res. 2007, 35:D823-D828. (Database issue).
18. Saada A., Shaag A., Arnon S., Dolfin T., Miller C., Fuchs-Telem D., Lombes A., Elpeleg O. Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. J. Med. Genet. 2007, 44(12):784-786.
19. Scheper G.C., van der Klok T., van Andel R.J., van Berkel C.G., Sissler M., Smet J., Muravina T.I., Serkov S.V., Uziel G., Bugiani M., Schiffmann R., Krageloh-Mann I., Smeitink J.A., Florentz C., Van Coster R., Pronk J.C., van der Knaap M.S. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat. Genet. 2007, 39(4):534-539.
20. Smeitink J.A., Elpeleg O., Antonicka H., Diepstra H., Saada A., Smits P., Sasarman F., Vriend G., Jacob-Hirsch J., Shaag A., Rechavi G., Welling B., Horst J., Rodenburg R.J., van den Heuvel B., Shoubridge E.A. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am. J. Hum. Genet. 2006, 79(5):869-877.
21. Smits P., Antonicka H., van Hasselt P.M., Weraarpachai W., Haller W., Schreurs M., Venselaar H., Rodenburg R.J., Smeitink J.A., van den Heuvel L.P. Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle. Eur. J. Hum. Genet. 2011, 19(3):275-279.
22. Spinazzola A., Zeviani M. Disorders of nuclear-mitochondrial intergenomic communication. Biosci. Rep. 2007, 27(1-3):39-51.
23. Valente L., Tiranti V., Marsano R.M., Malfatti E., Fernandez-Vizarra E., Donnini C., Mereghetti P., De Gioia L., Burlina A., Castellan C., Comi G.P., Savasta S., Ferrero I., Zeviani M. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am. J. Hum. Genet. 2007, 80(1):44-58.
24. Zeharia A., Shaag A., Pappo O., Mager-Heckel A.M., Saada A., Beinat M., Karicheva O., Mandel H., Ofek N., Segel R., Marom D., Rotig A., Tarassov I., Elpeleg O. Acute infantile liver failure due to mutations in the TRMU gene. Am. J. Hum. Genet. 2009, 85(3):401-407.