Mutations of the mitochondrial ND1 gene as a cause of MELAS

Journal of Medical Genetics

Volumn 41, Issue 10, 2004, Pages 784-789

  Kirby, D M ^a,b   McFarland, R ^c   Ohtake, A ^d,e   Dunning, C ^d   Ryan, M T ^d   Wilson, C ^f   Ketteridge, D ^g   Turnbull, D M ^c   Thorburn, D R ^a,b   Taylor, R W ^c  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d LA TROBE UNIVERSITY   (Australia)

^e SAITAMA MEDICAL UNIVERSITY   (Japan)

^f STARSHIP CHILDREN S HOSPITAL   (New Zealand)

^g WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; GUANINE; LEUCINE; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); THYMINE; TRANSFER RNA;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BIOCHEMISTRY; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; GENE; GENE MUTATION; HISTOLOGY; HUMAN; HUMAN CELL; MALE; MELAS SYNDROME; MOLECULAR GENETICS; ND1 GENE; NUCLEIC ACID BASE SUBSTITUTION; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN METABOLISM; RESPIRATORY CHAIN; RNA SEQUENCE; SCHOOL CHILD; SKELETAL MUSCLE;

ADOLESCENT; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FEMALE; FIBROBLASTS; HUMANS; MALE; MELAS SYNDROME; MITOCHONDRIA; MUSCLE, SKELETAL; MUTATION; NADH DEHYDROGENASE;

EID: 4744344532     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.020537     Document Type: Article

References (29)

1. Robinson BH, De Meirleir L, Glerum M, Sherwood G, Becker L. Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues ta pathogenesis of Leigh disease. J Pediatr 1987;110:216-22.
2. Kirby DM, Crawford M, Cleary MA, Dahl HH, Dennelt X, Thorburn DR. Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder. Neurology 1999;52:1255-64.
3. Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC, van den Heuvel LP. Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat 2000;15:123-34.
4. DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med 2003;348:2656-68.
5. Liolitsa D, Rahman S, Benton S, Carr U, Hanna MG. Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? Ann Neurol 2003;53:128-32.
6. Ravn K, Wibrand F, Hansen FJ, Horn N, Rosenberg T, Schwarte M. An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. Eur J Hum Genet 2001;9:805-9.
7. Huopanen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML. A new mtDNA mutation associated with Leber hereditary optic neuroretinopothy. Am J Hum Genet 1991;48:1147-53.
8. Majander A, Huoponen K, Savontaus ML, Nikoskelainen E, Wikstrom M. Electron transfer properties of NADH-ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON). FEBS Lett 1991;292:289-92.
9. Howell N, Bindoff LA, McCullough DA, Kubacka I, Poulton J, Mackey D, Taylor L, Turnbull DM. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet 1991;49:939-50.
10. Antonicka H, Ogilvie I, Taivassalo T, Anitari RP, Haller RG, Vissing J, Kennaway NG, Shoubridge EA. Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency. J Biol Chem 2003;278:43081-8.
11. Rahman S, Blok RB, Dahl HHM, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996;39:343-51.
12. Taylor RW, Taylor GA, Durham SE, Turnbull DM. The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations. Nucleic Acids Res 2001;29:E74-4.
13. Andrews RM, Kubacka I, Chinnery PF, Lightawlers RN, Turnbull DM, Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DMA. Nat Genet 1999;23:147.
14. Kirby DM, Boneh A, Chow CW, Ohtake A, Ryan MT, Thyagarajan D, Thorburn DR. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease. Ann Neurol 2003;54:473-8.
15. McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Turnbull DM, Taylor RW, Thorburn DR. De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. Ann Neurol 2004;55:58-64.
16. MITOMAP: A Human Mitochondrial Genome Database. http://www.mitamap.org, 2004.
17. MitoKor. http://www.mitokor.com/science/560mtdnas.php.
18. Rahmon S, Poultan J, Marchingtan D, Suomalainen A. Decrease of 3243 A→G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. Am J Hum Genet 2001;68:238-40.
19. Munaro M, Tiranti V, Sandona D, Lamantea E, Uziel G, Bisson R, Zeviani M. A single cell complementation class is common ta several cases of cytochrome c oxidase-defective Leigh's syndrome. Hum Mol Genet 1997;6:221-8.
20. Procaccio V, Mousson B, Beugnot R, Duborjal H, Feillet F, Putet G, Pignot-Paintrand I, Lombes A, De Coo R, Smeets H, Lunardi J, Issartel JP. Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. J Clin Invest 1999;104:83-92.
21. Fearnley IM, Walker JE. Conservation of sequences of subunits of mitochondrial complex-I and their relationships with other proteins. Biochim Biophys Acta 1992;1140:105-34.
22. Fisher N, Rich PR. A motif for quinone binding sites in respiratory and photasynthetic systems. J Mol Biol 2000;296:1153-62.
23. Zickermann V, Barquera B, Wikstrom M, Finel M. Analysis of the pathogenic human mitochondrial mutation ND1/3460, and mutations of strictly conserved residues in its vicinity, using the bacterium Paracoccus denitrificans. Biochemistry 1998;37:11792-6.
24. Kurki S, Zickermann V, Kervinen M, Hassinen I, Finel M. Mutagenesis of three conserved Glu residues in a bacterial homologue of the ND1 subunit of complex I affects ubiquinone reduction kinetics but not inhibition by dicyclohexylcarbodiimide. Biochemistry 2000;39:13496-502.
25. Darrouzet E, Issartel JP, Lunardi J, Dupuis A. The 49-kDa subunit of NADH-ubiquinone oxidoreductase (complex I) is involved in the binding of piericidin and rotenone, two quinone-related inhibitors. FEBS Lett 1998;431:34-8.
26. Roth R, Hagerhall C. Transmembrane orientation and topology of the NADH:quinone oxidoreductase putative quinone binding subunit NuoH. Biochim Biophys Acta 2001;1504:352-62.
27. Combet C, Blanchet C, Geourjon C, Deleage G. NPS@: network protein sequence analysis. Trends Biochem Sci 2000;25:147-50.
28. Yao J, Shoubridge EA. Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency. Hum Mol Genet 1999;8:2541-9.
29. Kirby DM, Kahler SG, Freckmann ML, Reddihough D, Thorburn DR. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. Ann Neurol 2000;48:102-4.