The np 3243 MELAS mutation: Damned if you aminoacylate, damned if you don't

Human Molecular Genetics

Volumn 9, Issue 4, 2000, Pages 463-465

  Jacobs, Howard T ^a,b   Holt, Ian J ^c  

^a TAMPERE UNIVERSITY HOSPITAL   (Finland)

^b UNIVERSITY OF GLASGOW   (United Kingdom)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE TRANSFER RNA; MITOCHONDRIAL DNA; NUCLEIC ACID BASE;

ACYLATION; CELL CULTURE; CHEMICAL MODIFICATION; GENE MUTATION; HUMAN; MELAS SYNDROME; NOTE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0034161959     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.4.463     Document Type: Note

References (11)

1. El Meziane, A., Lehtinen, S.K., Holt, I.J. and Jacobs, H.T. (1998) Mitochondrial tRNA(Leu) isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation. Hum. Mol. Genet., 7, 2141-2147.
2. Janssen, G.M.C., Maassen, J.A. and van den Ouweland, J.M.W. (1999) The diabetes-associated 3243 mutation in the mitochondrial tRNALeu(UUR) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis. J. Biol. Chem., 274, 29744-29748.
3. Helm, M., Florentz, C., Chomyn, A. and Attardi, G. (1999) Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNA(Lys) and tRNA(Leu(UUR)). Nucleic Acids Res., 27, 756-763.
4. El Meziane, A., Lehtinen, S.K., Hance, N., Nijtmans, L.G.J., Dunbar, D., Holt, I.J. and Jacobs, H.T. (1998) A tRNA suppressor mutation in human mitochondria. Nature Genet., 18, 350-353.
5. Koga, Y., Davidson, M., Schon, E.A. and King, M.P. (1993) Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS. Nucleic Acids Res., 21, 657-662.
6. Yasukawa, T., Suzuki, T., Ueda, T., Ohta, S. and Watanabe, K. (2000) Modification detect at anticodon wobble nucleotide of mitochondrial tRNALeu(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. J. Biol. Chem., 275, 4251-4257.
7. Fliert, A., Reichmann, H. and Seibel, P. (1997) Pathophysiology of the MELAS 3243 transition mutation. J. Biol. Chem., 272, 21789-27196.
8. Schon, E.A., Koga, Y., Davidson, M., Moraes, C.T. and King, M.P. (1992) The mitochondrial transfer RNA-leu(UUR) mutation in MELAS - a model for pathogenesis. Biochim. Biophys. Acta, 1101, 206-209.
9. Dunbar, D.R., Moonie, P.A., Zeviani, M. and Holt, I.J. (1996) Complex 1 deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids. Hum. Mol. Genet., 5, 123-129.
10. Börner, G.V., Zeviani, M., Tiranti, V., Carrara, F., Hoffmann, S., Gerbitz, K.D., Lochmüller, H., Pongratz, D., Klopstock, T., Melberg, A., Holme, E. and Pääbo, S. (2000) Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. Hum. Mol. Genet., 9, 467-475.
11. Hess, J.F., Parisi, M.A., Bennett, J.L. and Clayton, D.A. (1991) Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature, 351, 236-239.