Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency

Journal of Medical Genetics

Volumn 43, Issue 11, 2006, Pages 881-886

  Hinttala, R ^a   Smeets, R ^b   Moilanen, J S ^c   Ugalde, C ^b   Uusimaa, J ^a   Smeitink, J A M ^e   Majamaa, K ^d  

^a UNIVERSITY OF OULU   (Finland)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF TAMPERE   (Finland)

^d UNIVERSITY OF TURKU   (Finland)

^e NONE

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS DNA; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RIBOSOME RNA;

ADOLESCENT; ADULT; ARTICLE; BIOINFORMATICS; CHILD; CLINICAL ARTICLE; COMPLEX I DEFICIENCY; CONTROLLED STUDY; DNA SEQUENCE; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENETIC DISORDER; HUMAN; INFANT; MYOPATHY; NEWBORN; OXIDATIVE PHOSPHORYLATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; GENETIC SCREENING; HUMANS; INFANT; INFANT, NEWBORN; MITOCHONDRIAL DISEASES; PHYLOGENY;

EID: 33751215532     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.042168     Document Type: Article

References (27)

1. DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med 2003;348:2656-68.
2. Zeviani M, Di Donato S. Mitochondrial disorders. Brain 2004;127:2153-72.
3. Ingman M, Kaessmann H, Paabo S, Gyllensten U. Mitochondrial genome variation and the origin of modern humans. Nature 2000;408:708-13.
4. Finnilä S, Lehtonen MS, Majamaa K. Phylogenetic network for European mtDNA. Am J Hum Genet 2001;68:1475-84.
5. Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N. Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am J Hum Genet 2002;70:1152-71.
6. Coble MD, Just RS, O'Callaghan JE, Letmanyi IH, Peterson CT, Irwin JA, Parsons TJ. Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. Int J Legal Med 2004;118:137-46.
7. Tanaka M, Cabrera VM, Gonzales AM, Larruga JM, Takeyasu T, Fuku N, Guo L-J, Hirose R, Fujita Y, Kurata M, Shinoda K-i, Umetsu K, Yamada Y, Oshida Y, Sato Y, Hattori N, Mizuno Y, Arai Y, Hirose N, Ohta S, Ogawa O, Tanaka Y, Kawamori R, Shamoto-Nagai M, Maruyama W, Shimokata H, Suzuki R, Shimodaira H. Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genom Res 2004;14:1832-50.
8. Kivisild T, Shen P, Wall DP, Do B, Sung R, Davis KK, Passarino G, Underhill PA, Scharfe C, Torroni A, Scozzari R, Modiano D, Coppa A, de Knjiff P, Feldman MW, Cavalli-Sforza LL, Oefner PJ. The role of selection in the evolution of human mitochondrial genomes. Genetics 2006;172:373-87.
9. Moilanen JS, Majamaa K. Phylogenetic network and physicochemical properties of nonsynonymous mutations in the protein-coding genes of human mitochondrial DNA. Mol Biol Evol 2003;20:1195-210.
10. Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, Uusimaa J, Briones P, Campistol J, Majamaa K, Smeitink JA. Impaired complex 1 assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Ann Neurol 2003;54:665-9.
11. Esteitie N, Hinttala R, Wibom R, Nilsson H, Hance N, Naess K, Tear-Fahnehjelm K, von Dobeln U, Majamaa K, Larsson NG. Secondary metabolic effects in complex I deficiency. Ann Neurol 2005;58:544-52.
12. Bandelt HJ, Achilli A, Kong QP, Salas A, Lutz-Bonengel S, Sun C, Zhang YP, Torroni A, Yao YG. Low "penetrance" of phylogenetic knowledge in mitochondrial disease studies. Biochem Biophys Res Commun 2005;333:122-30.
13. Smeitink J, van den Heuvel L, DiMauro S. The genetics and pathology of oxidative phosphorylation. Nat Rev Genet 2001;2:342-52.
14. Grafakou O, Hol FA, Otfried Schwab K, Siers MH, ter Laak H, Trijbels F, Ensenauer R, Boelen C, Smeitink J. Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene. J Inherit Metab 2003;26:593-600.
15. Finnilä S, Hassinen IE, Ala-Kokko L, Majamaa K. Phylogenetic network of the mtDNA haplogroup U in Northern Finland based on sequence analysis of the complete coding region by conformation-sensitive gel electrophoresis. Am J Hum Genet 2000;66:1017-26.
16. Andrews RM, Kubacka I, Chinnery PF, Turnbull DM, Lightowler RN, Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 1999;23:147.
17. Lys mutation. Cell 1990;61:931-7.
18. Ruiz-Pesini E, Mishmar D, Brandon M, Procaccio V, Wallace DC. Effect of purifying and adaptive selection on regional variation in human mtDNA. Science 2004;303:223-6,
19. Johns DR, Smith KH, Miller NR. Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation. Arch Ophthalmol 1992;110:1577-81.
20. Bandelt HJ, Lahermo P, Richards M, Macaulay V. Detecting errors in mtDNA data by phylogenetic analysis. Int J Legal Med 2001;115:64-9.
21. Herrnstadt C, Preston G, Howell N. Errors, Phantom and otherwise, in human mtDNA sequences. Am J Hum Genet 2003;72:1585-6.
22. Wang LJ, Boles RG. Mitochondrial DNA analysis in clinical laboratory diagnostics. Clin Chim Acta 2005;354:1-20.
23. Man PY, Turnbull DM, Chinnery P. Leber hereditary optic neuropathy. J Med Genet 2002;39:162-9.
24. Howell N, Oostra RJ, Boldhuis PA, Spruijt L, Clarke LA, Mackey DA, Preston G, Herrnstadt C. Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 2003;72:1460-9.
25. van Senus AHC. Leber's disease in Netherlands. Doc Ophthalmol 1963;17:1-163.
26. Ugalde C, Hinttala R, Timal S, Smeets R, Rodenburg RJT, Uusimaa J, van Heuvel LP, Nijtmans LGJ, Majamaa K, Smeitink JAM. Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh Syndrsme. Mol Genet Metab 2006 [in press].
27. Meulemans A, Lissens W, Van Coster R, De Meirleir L, Smet J, Nassogne MC, Liebaers I, Seneca S. Analysis of the mitochondrial encoded subunits of complex I in 20 patients with a complex I deficiency. Eur J Paediatr Neurol 2004;8:299-306.