CIA30 complex I assembly factor: A candidate for human complex I deficiency?

Human Genetics

Volumn 110, Issue 3, 2002, Pages 264-270

  Janssen, Rolf ^a   Smeitink, Jan ^a   Smeets, Roel ^a   Van Den Heuvel, Lambert ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONE; COMPLEX I INTERMEDIATE ASSOCIATED PROTEIN 30; MITOCHONDRIAL DNA; PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UNCLASSIFIED DRUG;

ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; GENE; GENE DELETION; GENE MUTATION; HEART; HUMAN; HUMAN CELL; HUMAN TISSUE; KIDNEY; LIVER; LUNG; MALE; MITOCHONDRION; NEUROSPORA CRASSA; NUCLEOTIDE SEQUENCE; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; PROTEIN FUNCTION; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE) DEFICIENCY; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 15; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; GENE EXPRESSION; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NADH, NADPH OXIDOREDUCTASES; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN SUBUNITS; SEQUENCE HOMOLOGY, AMINO ACID; SPECIES SPECIFICITY; TISSUE DISTRIBUTION;

NEUROSPORA; NEUROSPORA CRASSA;

EID: 0036523991     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-001-0673-3     Document Type: Article

References (27)

1. Benit P, Chretien D, Kadhom N, De Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rotig A (2001) Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitichondrial complex I deficiency. Am J Hum Genet 68:1344-1352
2. Guo A, Nie F, Wong-Riley M (2000) Human nuclear respiratory factor 2 alpha subunit cDNA: Isolation, subcloning, sequencing, and in situ hybridization of transcripts in normal and monocularly deprived macaque visual systems. J Comp Neurol 417:221-232
3. Howell N, Kubacka I, Xu M, McCullough DA (1991) Leber hereditary optic neuropathy: Involvement of the mitochondrial ND1 gee and evidence for an intragenic suppressor mutation. Am J Hum Genet 48:935-942
4. James AM, Wei YH, Pang CY, Murphy MP (1996) Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations. Biochem J 318:401-407
5. Jun AS, Brown MD, Wallace DC (1994) A Mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci USA 91:6202-6210
6. KüffneR R, Rohr A, Schmiede A, Krull C, Schulte U (1998) Involvement of two model chaperones in the assembly of mitochondrial NADH: Ubiquinone oxidoreductase (complex I). J Mol Biol 283:409-417
7. Loeffen J, Smeets R, Smeitink J, Ruitenbeek W, Janssen A, Mariman E, Sengers R, Trijbels F, Van Den Heuvel L (1998a) The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyophaties: Tissue expression and mutation detection. J Inherit Metab Dis 21:210-215
8. Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, Van Den Heuvel L (1998b) The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet 63:1598-1608
9. Loeffe JL, Triepels RH, Van Den Heuvel LP, Schuelke M, Buskens CA, Smeets RJ, Trijbels JM, Smeitink JA (1998c) cDNA of eight nuclear encoded subunits of NADH: Ubiquinone oxidoreductase: Human complex I cDNA characterization completed. Biochem Biophys Res Commun 18:415-422
10. Loeffen J, Smeets R, Smeitink J, Triepels R, Sengers R, Trijbels F, Van Den Heuvel L (1999) The human NADH: Ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients. J Inherit Metab Dis 22:19-28
11. Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC, Van Den Heuvel LP (2000) Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects. Hum Mutat 15:123-134
12. Majander A,Huoponen K, Savontaus ML, Nikoskelainen E, Wikstrom M (1991) Electron transfer properties of NADH-Ubiquinone reuductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON). FEBS Lett 292:289-292
13. Papa S, Scacco S, Sardanelli AM, Vergari R, Papa F, Budde S, Van Den Heuvel L, Smeitink J (2001) Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome. FEBS Lett 489:259-262
14. 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-inteferon unducible protein (IP-30) precursor: Is this a link between mitochondrial myopathy and inflammation? Biochem Biophys Res Commun 17:599-606
15. Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, Stockler-Ipsiroglu S, Van Den Heuvel L (1999) Mutant NDUFV1 subunit of mitochondrial complex I causes leukodstrophy and myoclonic epilepsy. Nat Genet 21:260-261
16. Smeitink J, Loeffen J, Smeets R, Triepels R, Ruitenbeek W, Trijbels F, Van Den Heuvel L (1998) Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I. Hum Genet 103:245-250
17. Smeitink J, Van Den Heuvel L, Dimauro S (2001) The genetics and pathology of oxidative phosphorylation. Nat Rev Genet 2:342-352
18. Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M (1998) Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63:1609-1621
19. Triepels R, Van Den Heuvel L, Loeffen J, Smeets R, Trijbels F, Smeitink J (1998) The nuclear-encoded human NADH: Ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients. Hum Genet 103:557-563
20. Triepels R, Smeitink J, Loeffen J, Smeets R, Buskens C, Trijbels F, Van Den Heuvel L (1990a) The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology. J Inherit Metab Dis 22:163-173
21. Triepels RH, Van Den Heuvel LP, Loeffen JL, Buskens CA, Smeets RJ, Rubio Gozalbo ME, Budde SM, Mariman EC, Wijburg FA, Barth PG, Trijbels JM, Smeitink JA (1999b) Leigh syndrome associated wit a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann Neurol 45:787-790
22. Triepels RH, Hanson BJ, Van Den Heuvel LP, Sundell L, Marusich MF, Smeitink JA, Capaldi RA (2001) Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns. J Biol Chem 23:8892-8897
23. Tuschen G, Sackmann U, Nehls U, Haiker H, Buse G, Weiss H (1990) Assembly of NADH:ubiquinone reductase (complex I) in Neurospora mitochondria. Independent pathways of nuclear-encoded and mitochondrially encoded subunits. J Mol Biol 213:845-857
24. Van Den Heuvel L, Ruitenbeek W, Smeets R, Gelman-Kohan Z, Elpeleg O, Loeffen J, Triejbels F, Mariman E, Bruijn D de, Smeitink J (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
25. Virbasius JV, Virbasius CA, Scarpulla RC (1993) Identity of GABP with NRF-2, a multisubunit activator of cytochrome oxidaseexpression, reveals a cellular role for an ETS domain activator of viral promoters. Genes Dev 7:380-392
26. Walker JE (1992) The NADH: Ubiquinone oxidoreductase (complex I) of respiratory chains. Q Rev Biophys 25:253-324
27. Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA (1998) SURF1, encoding a factor involved in the biogenesis of ctochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 20:337-343