MELAS mitochondrial DNA mutation A3243G reduces glutamate transport in cybrids cell lines

Experimental Neurology

Volumn 212, Issue 1, 2008, Pages 152-156

  DiFrancesco, Jacopo C ^a,c,d   Cooper, J Mark ^d   Lam, Amanda ^d   Hart, Paul E ^d   Tremolizzo, Lucio ^a,b   Ferrarese, Carlo ^a,b,c   Schapira, Antony H ^d,e  

^a UNIVERSITY OF MILANO BICOCCA   (Italy)

^b SAN GERARDO HOSPITAL   (Italy)

^c SCIENTIFIC INSTITUTE   (Italy)

^d ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

A3243G; Cybrid; Excitotoxicity; Glutamate; MELAS; Mitochondria

Indexed keywords

EXCITATORY AMINO ACID TRANSPORTER; FREE RADICAL; GLUTAMIC ACID; LEUCINE; MITOCHONDRIAL DNA; NEUROTRANSMITTER; TRANSFER RNA;

ARTICLE; BINDING AFFINITY; BRAIN NERVE CELL; CELL FUNCTION; CELL LINE; CONTROLLED STUDY; CYBRID; ENERGY YIELD; EXCITOTOXICITY; GENE MUTATION; GENETIC ASSOCIATION; HOMEOSTASIS; HUMAN; HUMAN CELL; HYPOTHESIS; MELAS SYNDROME; MITOCHONDRION; MOLECULAR CLONING; OSTEOSARCOMA; OXIDATIVE PHOSPHORYLATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SYNTHESIS; PROTEIN TRANSPORT; RADIOACTIVITY;

ADENOSINE TRIPHOSPHATE; BIOLOGICAL TRANSPORT; CELL LINE, TUMOR; DNA, MITOCHONDRIAL; DOWN-REGULATION; ENERGY METABOLISM; GLUTAMATE PLASMA MEMBRANE TRANSPORT PROTEINS; GLUTAMIC ACID; HUMANS; HYBRIDOMAS; MELAS SYNDROME; MITOCHONDRIA; MUTATION; RADIOLIGAND ASSAY; TRITIUM;

EID: 44649148350     PISSN: 00144886     EISSN: 10902430     Source Type: Journal    
DOI: 10.1016/j.expneurol.2008.03.015     Document Type: Article

References (33)

1. Albin R.L., and Greenamyre J.T. Alternative excitotoxic hypotheses. Neurology 42 (1992) 733-738
2. Beretta S., Mattavelli L., Sala G., Tremolizzo L., Schapira A.H., Martinuzzi A., Carelli V., and Ferrarese C. Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines. Brain 127 (2004) 2183-2192
3. Beretta S., Wood J.P., Derham B., Sala G., Tremolizzo L., Ferrarese C., and Osborne N.N. Partial mitochondrial complex I inhibition induces oxidative damage and perturbs glutamate transport in primary retinal cultures. Relevance to Leber Hereditary Optic Neuropathy (LHON). Neurobiol. Dis. 24 (2006) 308-317
4. Blakely E.L., de Silva R., King A., Schwarzer V., Harrower T., Dawidek G., Turnbull D.M., and Taylor R.W. LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. Eur. J. Hum. Genet. 13 (2005) 623-627
5. Ciafaloni E., Ricci E., Shanske S., Moraes C.T., Silvestri G., Hirano M., Simonetti S., Angelini C., Donati M.A., and Garcia C. MELAS: clinical features, biochemistry, and molecular genetics. Ann. Neurol. 31 (1992) 391-398
6. Danbolt N.C. Glutamate uptake. Prog. Neurobiol. 65 (2001) 1-105
7. DiMauro S., and Schon E.A. Mitochondrial respiratory-chain diseases. N. Engl. J. Med. 348 (2003) 2656-2668
8. El Meziane A., Lehtinen S.K., Hance N., Nijtmans L.G., Dunbar D., Holt I.J., and Jacobs H.T. A tRNA suppressor mutation in human mitochondria. Nat. Genet. 18 (1998) 350-353
9. Ferrarese C., and Biel M.F. Excitotoxicity in neurological diseases, new therapeutic challenge (2004), Kluwer Academic Publisher
10. Goto Y., Nonaka I., and Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348 (1990) 651-653
11. Gu M., Cooper J.M., Taanman J.W., and Schapira A.H. Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease. Ann. Neurol. 44 (1998) 177-186
12. Helm M., Florentz C., Chomyn A., and Attardi G. Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR). Nucleic Acids Res. 27 (1999) 756-763
13. Hirata K., Akita Y., Povalko N., Nishioka J., Yatsuga S., Matsuishi T., and Koga Y. Effect of l-arginine on synaptosomal mitochondrial function. Brain Dev. 30 (2008) 238-245
14. Ichiki T., Tanaka M., Nishikimi M., Suzuki H., Ozawa T., Kobayashi M., and Wada Y. Deficiency of subunits of Complex I and mitochondrial encephalomyopathy. Ann. Neurol. 23 (1988) 287-294
15. Iizuka T., and Sakai F. Pathogenesis of stroke-like episodes in MELAS: analysis of neurovascular cellular mechanisms. Curr. Neurovasc. Res. 2 (2005) 29-45
16. James A.M., Sheard P.W., Wei Y.H., and Murphy M.P. Decreased ATP synthesis is phenotypically expressed during increased energy demand in fibroblasts containing mitochondrial tRNA mutations. Eur. J. Biochem. 259 (1999) 462-469
17. Kariya S., Hirano M., Furiya Y., and Ueno S. Effect of humanin on decreased ATP levels of human lymphocytes harboring A3243G mutant mitochondrial DNA. Neuropeptides 39 (2005) 97-101
18. King M.P., Koga Y., Davidson M., and Schon E.A. Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Mol. Cell. Biol. 12 (1992) 480-490
19. Korlipara L.V., Cooper J.M., and Schapira A.H. Differences in toxicity of the catechol-O-methyl transferase inhibitors, tolcapone and entacapone to cultured human neuroblastoma cells. Neuropharmacology 46 (2004) 562-569
20. Liu C.Y., Lee C.F., Hong C.H., and Wei Y.H. Mitochondrial DNA mutation and depletion increase the susceptibility of human cells to apoptosis. Ann. N.Y. Acad. Sci. 1011 (2004) 133-145
21. Moudy A.M., Handran S.D., Goldberg M.P., Ruffin N., Karl I., Kranz-Eble P., DeVivo D.C., and Rothman S.M. Abnormal calcium homeostasis and mitochondrial polarization in a human encephalomyopathy. Proc. Natl. Acad. Sci. U. S. A 92 (1995) 729-733
22. O'Neill C.M., Ball S.G., and Vaughan P.F. Effects of ischaemic conditions on uptake of glutamate, aspartate, and noradrenaline by cell lines derived from the human nervous system. J. Neurochem. 63 (1994) 603-611
23. Pang C.Y., Lee H.C., and Wei Y.H. Enhanced oxidative damage in human cells harboring A3243G mutation of mitochondrial DNA: implication of oxidative stress in the pathogenesis of mitochondrial diabetes. Diabetes Res. Clin. Pract. 54 Suppl 2 (2001) S45-S56
24. Pulkes T., Eunson L., Patterson V., Siddiqui A., Wood N.W., Nelson I.P., Morgan-Hughes J.A., and Hanna M.G. The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS. Ann. Neurol. 46 (1999) 916-919
25. Rusanen H., Majamaa K., and Hassinen I.E. Increased activities of antioxidant enzymes and decreased ATP concentration in cultured myoblasts with the 3243A->G mutation in mitochondrial DNA. Biochim. Biophys. Acta 1500 (2000) 10-16
26. Sandhu J.K., Sodja C., McRae K., Li Y., Rippstein P., Wei Y.H., Lach B., Lee F., Bucurescu S., Harper M.E., and Sikorska M. Effects of nitric oxide donors on cybrids harbouring the mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) A3243G mitochondrial DNA mutation. Biochem. J. 391 (2005) 191-202
27. Schapira A.H. Mitochondrial disease. Lancet 368 (2006) 70-82
28. Shepherd R.K., Checcarelli N., Naini A., De Vivo D.C., DiMauro S., and Sue C.M. Measurement of ATP production in mitochondrial disorders. J. Inherit. Metab. Dis. 29 (2006) 86-91
29. Sparaco M., Bonilla E., DiMauro S., and Powers J.M. Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects. J. Neuropathol. Exp. Neurol. 52 (1993) 1-10
30. Turner L.F., Kaddoura S., Harrington D., Cooper J.M., Poole-Wilson P.A., and Schapira A.H. Mitochondrial DNA in idiopathic cardiomyopathy. Eur. Heart J. 19 (1998) 1725-1729
31. Wong A., and Cortopassi G. mtDNA mutations confer cellular sensitivity to oxidant stress that is partially rescued by calcium depletion and cyclosporin A. Biochem. Biophys. Res. Commun. 239 (1997) 139-145
32. Wong A., Cavelier L., Collins-Schramm H.E., Seldin M.F., McGrogan M., Savontaus M.L., and Cortopassi G.A. Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells. Hum. Mol. Genet. 11 (2002) 431-438
33. Yoneda M., Tanaka M., Nishikimi M., Suzuki H., Tanaka K., Nishizawa M., Atsumi T., Ohama E., Horai S., and Ikuta F. Pleiotropic molecular defects in energy-transducing complexes in mitochondrial encephalomyopathy (MELAS). J. Neurol. Sci. 92 (1989) 143-158