Concerted action of two novel tRNA mtDNA point mutationsin chronic progressive external ophthalmoplegia

Bioscience Reports

Volumn 28, Issue 2, 2008, Pages 89-96

  Kornblum, Cornelia ^a   Zsurka, Ǵabor ^a,b   Wiesner, Rudolf J ^c   Schröder, Rolf ^d   Kunz, Wolfram S ^a,b  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b Life and Brain Center   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

Chronic progressive external ophthalmoplegia (CPEO); Mitochondrial DNA (mtDNA); Mitochondrial DNA disease; Mitochondrial tRNA; Oxidative phosphorylation

Indexed keywords

MITOCHONDRIAL DNA; TRANSFER RNA;

ADOLESCENT; ADULT; AGED; ARTICLE; CHEMISTRY; CHILD; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CONFORMATION; FEMALE; GENETICS; HUMAN; MALE; METABOLISM; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; POINT MUTATION; PRESCHOOL CHILD; SKELETAL MUSCLE;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; NUCLEIC ACID CONFORMATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; POINT MUTATION; RNA, TRANSFER;

EID: 49949118670     PISSN: 01448463     EISSN: 15734935     Source Type: Journal    
DOI: 10.1042/BSR20080004     Document Type: Article

References (28)

1. Biousse, V. and Newman, N. J. (2003) Neuro-ophthalmology of mitochondrial diseases. Curr. Opin. Neurol. 16, 35-43 (Pubitemid 36206760)
2. Hirano, M. and DiMauro, S. (2001) ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia. Neurology 57, 2163-2165 (Pubitemid 34016445)
3. Mancuso, M., Filosto, M., Choub, A., Tentorio, M., Broglio, L., Padovani, A. and Siciliano, G. (2007) Mitochondrial DNA-related disorders. Biosci. Rep. 27, 31-37 (Pubitemid 46940936)
4. Tully, L. A., Parsons, T. J., Steighner, R. J., Holland, M. M., Marino, M. A. and Prenger, V. L. (2000) A sensitive denaturing gradient-gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region. Am. J. Hum. Genet. 67, 432-443 (Pubitemid 30618041)
5. McFarland, R., Clark, K. M., Morris, A. A., Taylor, R. W., Macphail, S., Lightowlers, R. N. and Turnbull, D. M ( 2002) Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nat. Genet. 30, 145-146
6. McFarland, R., Schaefer, A. M., Gardner, J. L., Lynn, S., Hayes, C. M., Barron, M. J., Walker, M., Chinnery, P. F., Taylor, R. W. and Turnbull, D. M. (2004) Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation. Ann. Neurol. 55, 478-484 (Pubitemid 38391964)
7. Taylor, R. W., Giordano, C., Davidson, M. M., d'Amati, G., Bain, H., Hayes, C. M., Leonard, H., Barron, M. J., Casali, C., Santorelli, F. M. et al. (2003) A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 41, 1786-1796 (Pubitemid 36584254)
8. Limongelli, A., Schaefer, J., Jackson, S., Invernizzi, F., Kirino, Y., Suzuki, T., Reichmann, H. and Zeviani, M. (2004) Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome. J. Med. Genet. 41, 342-349 (Pubitemid 38608516)
9. Scuderi, C., Borgione, E., Musumeci, S., Elia, M., Castello, F., Fichera, M., Davidzon, G. and DiMauro, S. (2007) Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene. Neuromuscul. Disord. 17, 258-261 (Pubitemid 46413755)
10. rd edn, W.B. Saunders, Elsevier
11. Varlamov, D. A., Kudin, A. P., Vielhaber, S., Schröder, R., Sassen, R., Becker, A., Kunz, D., Haug, K., Rebstock, J., Heils, A. et al. ( 2002) Metabolic consequences of a novel missense mutation of the mtDNA CO I gene. Hum. Mol. Genet. 11, 1797-1805
12. Zsurka, G., Schröder, R., Kornblum, C., Rudolph, J., Wiesner, R. J., Elger, C. E. and Kunz, W. S. ( 2004) Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism. J. Med. Genet. 41, e124
13. Wiedemann, F. R., Vielhaber, S., Schr̈oder, R., Elger, C. E. and Kunz, W. S. (2000) Evaluation of methods for the determination of mitochondrial respiratory chain enzyme activities in human skeletal muscle samples. Anal. Biochem. 279, 55-60 (Pubitemid 30148466)
14. Miller, S. A., Dykes, D. D. and Polesky, H. F. ( 1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16, 1215
15. Zsurka, G., Kraytsberg, Y., Kudina, T., Kornblum, C., Elger, C. E., Khrapko, K. and Kunz, W. S. (2005) Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy. Nat. Genet. 37, 873-877 (Pubitemid 41077114)
16. Maniura-Weber, K., Helm, M., Engemann, K., Eckertz, S., Möllers, M., Schauen, M., Hayrapetyan, A., von Kleist-Retzow, J. C., Lightowlers, R. N., Bindoff, L. A. and Wiesner, J. R. ( 2006) Molecular dysfunction associated with the human mitochondrial >G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene. Nucleic Acids Res. 34, 6404-6415
17. Yasukawa, T., Hino, N., Suzuki, T., Watanabe, K., Ueda, T. and Ohta, S. ( 2000) A pathogenic point mutation reduces stability of mitochondrial mutant tRNA(Ile). Nucleic Acids Res. 28, 3779-3784
18. Andrews, R. M., Kubacka, I., Chinnery, P. F., Lightowlers, R. N., Turnbull, D. M. and Howell, N. (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat. Genet. 23, 147 (Pubitemid 29455385)
19. Sprinzl, M., Horn, C., Brown, M., Ioudovitch, A. and Steinberg, S. (1998) Compilation of tRNA sequences and sequences of tRNA genes. Nucleic Acids Res. 26, 148-153 (Pubitemid 28295271)
20. Helm, M., Brule, H., Friede, D., Giege, R., Putz, D. and Florentz, C. ( 2000) Search for characteristic structural features of mammalian mitochondrial tRNAs. RNA 6, 1356-1379
21. Pruitt, K. D., Tatusova, T. and Maglott, D. R. (2005) NCBI Reference Sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins. Nucleic Acids Res. 33, D501-D504 (Pubitemid 40207924)
22. Achilli, A., Rengo, C., Magri, C., Battaglia, V., Olivieri, A., Scozzari, R., Cruciani, F., Zeviani, M., Briem, E., Carelli, V. et al. (2004) The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am. J. Hum. Genet. 75, 910-918 (Pubitemid 39390500)
23. Siciliano, G., Volpi, L., Piazza, S., Ricci, G., Mancuso, M. and Murri, L. (2007) Functional diagnostics in mitochondrial diseases. Biosci. Rep. 27, 53-67 (Pubitemid 46947933)
24. DiMauro, S. and Schon, E. A. (2001) Mitochondrial DNA mutations in human disease. Am. J. Med. Genet. 106, 18-26 (Pubitemid 32601614)
25. McFarland, R., Elson, J. L., Taylor, R. W., Howell, N. and Turnbull, D. M. (2004) Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough. Trends Genet. 20, 591-596 (Pubitemid 39441275)
26. Petruzzella, V., Moraes, C. T., Sano, M. C., Bonilla, E., DiMauro, S. and Schon, A. E. (1994) Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibres in patients harboring a point mutation at nt 3243. Hum. Mol. Genet. 3, 449-454 (Pubitemid 24083906)
27. Cardaioli, E., Da Pozzo, P., Radi, E., Dotti, M. T. and Federico, A. (2005) A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia. Biochem. Biophys. Res. Commun. 327, 675-678 (Pubitemid 40092803)
28. Wittenhagen, L. M. and Kelly, S. O. (2002) Dimerization of a pathogenic human mitochondrial tRNA. Nat. Struct. Biol. 9, 586-590 (Pubitemid 34816138)