Human mitochondrial complex I in health and disease

American Journal of Human Genetics

Volumn 64, Issue 6, 1999, Pages 1505-1510

  Smeitink, Jan ^a   Van Den Heuvel, Lambert ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); TRANSCRIPTION FACTOR;

CELL NUCLEUS; DNA SEQUENCE; GENE EXPRESSION; LEIGH DISEASE; MITOCHONDRIAL MEMBRANE; MITOCHONDRION; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DNA INTERACTION; REVIEW;

EID: 0033358590     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302432     Document Type: Article

References (38)

1. Belogrudov G, Hatefi Y (1994) Catalytic sector of complex I (NADH:ubiquinone oxidoreductase): subunit stoichiometry and substrate-induced conformation changes. Biochemistry 33:4571-4576
2. Clayton DA (1998) Nuclear-mitochondrial intergenomic communication. Biofactors 7:203-205
3. Dekker PJ, Ryan MT, Brix J, Muller H, Honlinger A, Pfanner N (1998) Preprotein translocase of the outer mitochondrial membrane: molecular dissection and assembly of the general import pore complex. Mol Cell Biol 18:6515-6524
4. Duhig T, Ruhrberg C, Mor O, Fried M (1998) The human surfeit locus [in process citation]. Genomics 52:72-78
5. Emahazion T, Beskow A, Gyllensten U, Brookes AJ (1998) Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain. Cytogenet Cell Genet 82:115-119
6. Emahazion T, Brookes AJ (1998) Mapping of the NDUFA2, NDUFA6, NDUFA7, NDUFAB8, and NDUFS8 electron transport chain genes by intron based radiation hybrid mapping. Cytogenet Cell Genet 82:112-114
7. Galante YM, Hatefi Y (1979) Purification and molecular and enzymic properties of mitochondrial NADH dehydrogenase. Arch Biochem Biophys 192:559-568
8. Grigorieff N (1998) Three-dimensional structure of bovine NADH:ubiquinone oxidoreductase (complex I) at 22 A in ice. J Mol Biol 277:1033-1046
9. Guenebaut V, Schlitt A, Weiss H, Leonard K, Friedrich T (1998) Consistent structure between bacterial and mitochondrial NADH:ubiquinone oxidoreductase (complex I). J Mol Biol 276:105-112
10. Hatefi Y (1985) The mitochondrial electron transport and oxidative phosphorylation system. Annu Rev Biochem 54:1015-1069
11. Hill K, Model K, Ryan MT, Dietmeier K, Martin F, Wagner R, Pfanner N (1998) Tom40 forms the hydrophilic channel of the mitochondrial import pore for preproteins. Nature 395:516-521
12. Kuffner R, Rohr A, Schmiede A, Krull C, Schulte U (1998) Involvement of two novel chaperones in the assembly of mitochondrial NADH:ubiquinone oxidoreductase (complex I). J Mol Biol 283:409-417
13. Leigh D (1951) Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatr 14:216-221
14. Liang MH, Wong LJ (1998) Yield of mtDNA mutation analysis in 2,000 patients. Am J Med Genet 77:395-400
15. Lin X, Wells DE, Kimberling WJ, Kumar S (1999) Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13. Hum Hered 49:75-80
16. Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, et al (1998a) The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet 63:1598-1608
17. Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA, Smeets RJ, Trijbels JM, et al (1998b) cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. Biochem Biophys Res Commun 253:415-422
18. Morris AA, Leonard JV, Brown GK, Bindouki SK, Bindoff LA, Woodward CE, Harding AE, et al (1996) Deficiency of respiratory chain complex I is a common cause of Leigh disease. Ann Neurol 40:25-30
19. Moyes CD, Battersby BJ, Learly SC (1998) Regulation of muscle mitochondrial design. J Exp Biol 201:299-307
20. Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, et al (1996) Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 39:343-351
21. Robinson BH (1998) Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect. Biochim Biophys Acta 1364:271-286
22. Schuelke M, Loeffen J, Mariman E, Smeitink J, van den Heuvel L (1998) Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3′UTR with the 5′UTR of the gamma- interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation? Biochem Biophys Res Commun 245:599-606
23. Schuelke M, Smeitink J, Mariman E, Plecko B, Trijbels F, Stöckler-Ipsiroglu S, van den Heuvel L, et al (1999) Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat Genet 21:260-261
24. Sengers RC, Trijbels JM, Willems JL, Daniels O, Stadhouders AM (1975) Congenital cataract and mitochondrial myopa thy of skeletal and heart muscle associated with lactic acidosis after exercise. J Pediatr 86:873-880
25. Shadel GS, Clayton DA (1997) Mitochondrial DNA maintenance in vertebrates. Annu Rev Biochem 66:409-435
26. Sirrenberg C, Endres M, Folsch H, Stuart R, Neupert W, Brunner M (1998) Carrier protein import into mitochondria mediated by the intermembrane proteins Tim10/Mrs11 and Tim12/Mrs5. Nature 391:912-915
27. Skehel JM, Fearnley IM, Walker JE (1998) NADH:ubiquinone oxidoreductase from bovine heart mitochondria: sequence of a novel 17.2-kDa subunit. FEBS Lett 438:301-305
28. Smeitink J, Loeffen J, Smeets R, Triepels R, Ruitenbeek W, Trijbels F, van den Heuvel L (1998a) Molecular characterization and mutational analysis in the human B17 subunit of the mitochondrial respiratory chain complex I. Hum Genet 103:245-250
29. Smeitink JAM, Loeffen JLCM, Triepels RH, Smeets RJP, Trijbels JMF, van den Heuvel LP (1998b) Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art. Hum Mol Genet 7:1573-1579
30. Smeitink JA, Sengers RC, Trijbels JM, Ruitenbeek W, Daniels O, Stadhouders AM, Kock-Jansen MJ (1989) Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy. Eur J Pediatr 148:656-659
31. Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, et al (1998) Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63:1609-1621
32. Triepels RH, van den Heuvel LP, Loeffen JLCM, Buskens CAF, Smeets RJP, Rubio Gozalbo ME, Budde SMS, et al. Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann Neurol (in press)
33. van den Heuvel L, Ruitenbeek W, Smeets R, Gelman-Kohan Z, Elpeleg O, Loeffen J, Trijbels F, et al. (1998) Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. Am J Hum Genet 62:262-268
34. Walker JE (1992) The NADH:ubiquinone oxidoreductase (complex I) of respiratory chains. Q Rev Biophys 25:253-324
35. Wallace DG (1992) Diseases of the mitochondrial DNA. Annu Rev Biochem 61:1175-1212
36. Weidner U, Geier S, Ptock A, Friedrich T, Leif H, Weiss H (1993) The gene locus of the proton-translocating NADH:ubiquinone oxidoreductase in Escherichia coli: organization of the 14 genes and relationship between the derived proteins and subunits of mitochondrial complex 1. J Mol Biol 233:109-122
37. Zeviani M, Tiranti V, Piantadosi C (1998) Mitochondrial disorders. Medicine (Baltimore) 77:59-72
38. Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, et al (1998) SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 20:337-343