Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNATrp in patients with Leigh syndrome

Molecular Genetics and Metabolism

Volumn 97, Issue 3, 2009, Pages 179-184

  Mkaouar Rebai, Emna ^a   Chamkha, Imen ^a   Kammoun, Fatma ^a,b   Kammoun, Thouraya ^c   Aloulou, Hajer ^c   Hachicha, Mongia ^c   Triki, Chahnez ^a,b   Fakhfakh, Faiza ^a  

^a UNIVERSITY OF SFAX   (Tunisia)

^b HEDI CHAKER HOSPITAL   (Tunisia)

^c HABIB BOURGUIBA HOSPITAL   (Tunisia)

Author keywords

Leigh syndrome; Mitochondrial mutations; Mitochondrial polymorphisms; MT TW

Indexed keywords

LEUCINE TRANSFER RNA; LYSINE TRANSFER RNA; MITOCHONDRIAL RNA; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; TRYPTOPHAN TRANSFER RNA; VALINE TRANSFER RNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC SCREENING; HUMAN; LEIGH DISEASE; MALE; MITOCHONDRIAL GENETICS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA STRUCTURE; SCHOOL CHILD; SEQUENCE ANALYSIS; TUNISIA;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LEIGH DISEASE; MALE; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEIC ACID CONFORMATION; RNA, TRANSFER, TRP; SEQUENCE ALIGNMENT; TUNISIA;

EID: 67349264539     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.03.003     Document Type: Article

References (24)

1. Schon E.A. Mitochondrial genetics and disease. Trends Biochem. Sci. 25 (2000) 55-60
2. Schmiedel J., Jackson S., Schäfer J., and Reichmann H. Mitochondrial cytopathies. J. Neurol. 250 (2003) 267-277
3. DiMauro S., Andreu A.L., and De Vivo D.C. Mitochondrial disorders. J. Child Neurol. 17 (2002) 35-45
4. Crimi M., Papadimitriou A., Galbiati S., Palamidou P., Fortunato F., Bordoni A., Papandreou U., Papadimitriou D., Hadjigeorgiou G.M., Drogari E., Bresolin N., and Comi G.P. A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality. Pediatr. Res. 55 (2004) 842-846
5. Sudo A., Honzawa S., Nonaka I., and Goto Y. Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan. J. Hum. Genet. 49 (2004) 92-96
6. Ugalde C., Triepels R.H., Coenen M.J., van den Heuvel L.P., Smeets R., Uusimaa J., Briones P., Campistol J., Majamaa K., Smeitink J.A., and Nijtmans L.G. Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Ann. Neurol. 5 (2003) 665-669
7. Vanniarajan A., Rajshekher G.P., Joshi M.B., Reddy A.G., Singh L., and Thangaraj K. Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome. Acta Neurol. Scand. 114 (2006) 350-353
8. Trp gene. Neuropediatrics 34 (2003) 87-91
9. Trp gene. Ann. Neurol. 42 (1997) 256-260
10. Howell N., Kubacka I., Smith R., Frerman F., Parks J.K., and Parker Jr. W.D. Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease. Neurology 46 (1996) 219-222
11. Shtilbans A., Shanske S., Goodman S., Sue C.M., Bruno C., Johnson T.L., Lava N.S., Waheed N., and DiMauro S. G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome. J. Child. Neurol. 15 (2000) 759-761
12. Lewin H.A., and Stewart-Haynes J.A. A simple method for DNA extraction from leukocytes for use in PCR. Biotechniques 13 (1992) 522-524
13. Hofacker I.L. Vienna RNA secondary structure server. Nucleic Acids Res. 31 (2003) 3429-3431
14. Trp gene. Neuromuscul. Disord. 8 (1998) 291-295
15. Trp gene produces a neurogastrointestinal syndrome. Eur. J. Hum. Genet. 12 (2004) 509-512
16. Scaglia F., and Wong L.J. Human mitochondrial transfer RNAs: role of pathogenic mutation in disease. Muscle Nerve 37 (2008) 150-171
17. Koga Y., Davidson M., Schon E.A., and King M.P. Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNALeu(UUR) gene. Muscle Nerve Suppl. 3 (1995) S119-S123
18. Flierl A., Reichmann H., and Seibel P. Pathophysiology of the MELAS 3243 transition mutation. J. Biol. Chem. 272 (1997) 27189-27196
19. Levinger L., Jacobs O., and James M. In vitro 3′ end endonucleolytic processing defect in a human mitochondrial tRNASer(UCN) precursor with the U7445C substitution, which causes non-syndromic deafness. Nucleic Acids Res. 29 (2001) 4334-4340
20. Leu(UUR) associated with mitochondrial diseases. FEBS Lett. 433 (1998) 269-274
21. Hao H., and Moraes C.T. A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNAAsn. Mol. Cel. Biol. 17 (1997) 6831-6837
22. Leu(UUR) mutation causes aminoacylation deficieny and concomitant reduced associated of mRNA with ribosomes. J. Biol. Chem. 275 (2000) 19198-19209
23. Yasukawa T., Hino N., Suzuki T., Watanabe K., Ueda T., and Ohta S. A pathogenic point mutation reduces stability of mitochondrial mutant tRNAIle. Nucleic Acids Res. 28 (2000) 3779-3784
24. Wittenhagen L.M., and Kelley S.O. Impact of disease-related mitochondrial mutations on tRNA structure and function. Trends Biochem. Sci. 28 (2003) 605-611