Human mitochondrial complex I deficiency: Investigating transcriptional responses by microarray

Neuropediatrics

Volumn 34, Issue 1, 2003, Pages 14-22

  Van der Westhuizen, F H ^a,b   Van den Heuvel, L P ^a   Smeets, R ^a   Veltman, J A ^a   Pfundt, R ^a   Van Kessel, A G ^a   Ursings, B M ^c,d   Smeitink, J A M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NORTH WEST UNIVERSITY   (South Africa)

^c RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^d KAROLINSKA INSTITUTE   (Sweden)

Author keywords

Complex I deficiency; Genomics; Inherited diseases; Metallothionein; Microarray; Mitochondria; Transcriptional responses

Indexed keywords

HEAT SHOCK PROTEIN; METALLOTHIONEIN;

AEROBIC METABOLISM; ARTICLE; CELL MUTANT; CLINICAL ARTICLE; CONTROLLED STUDY; DNA MICROARRAY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST CULTURE; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; GENETIC TRANSCRIPTION; GENOMICS; GLYCOLYSIS; HUMAN; HUMAN CELL; HUMAN MITOCHONDRIAL COMPLEX I DEFICIENCY; MALE; METABOLIC DISORDER; MITOCHONDRIAL GENETICS; MITOCHONDRION; NUCLEOTIDE SEQUENCE; OXIDATIVE STRESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; UNINDEXED SEQUENCE;

ADULT; CELL LINE; CHILD; CHILD, PRESCHOOL; ELECTRON TRANSPORT COMPLEX I; FEMALE; FIBROBLASTS; GENE EXPRESSION; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MITOCHONDRIAL DISEASES; NADH DEHYDROGENASE; NADH, NADPH OXIDOREDUCTASES; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; TRANSCRIPTION, GENETIC;

EID: 0037312846     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2003-38618     Document Type: Article

References (42)

1. Abel J, de Ruiter N. Inhibition of hydroxyl-radical-generated DNA degradation by metallothionein. Toxicol Lett 1989; 47: 191-196
2. Allen RG, Tresini M. Oxidative stress and gene regulation. Free Radic Biol Med 2000; 28: 463-499
3. Barrientos A, Moraes CT. Titrating the effects of mitochondrial complex I impairment in the cell physiology. J Biol Chem 1999; 23: 16188-16197
4. Benit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A et al. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Am J Hum Genet 2001; 68: 1344-1352
5. Brons PP, Pennings AH, Haanen C, Wessels HM, Boezeman JB. Simultaneous measurement of DNA content and cell-surface immunofluorescence of human bone marrow cells using a single laser flow cytometer. Cytometry 1990; 11: 837-844
6. Chen G, Ray R, Dubik D, Shi L, Cizeau J, Bleackley RC et al. The E1 B 19 K/Bcl-2-binding protein Nip3 is a dimeric mitochondrial protein that activates apoptosis. J Exp Med 1997; 15: 1975-1983
7. Collombet JM, Faure-Vigny H, Mandon G, Dumoulin R, Boissier S, Bernard A et al. Expression of oxidative phosphorylation genes in muscle cell cultures from patients with mitochondrial myopathies. Mol Cell Biochem 1997; 168: 73-85
8. Cooperstein SJ, Lazarow, A. A microspectrophotometric method for the determination of cytochrome c oxidase. J Biol Chem 1951; 189: 665-670
9. Dalton TP, Shertzer HG, Puga A. Regulation of gene expression by reactive oxygen. Annu Rev Pharmacol Toxicol 1999; 39: 67-101
10. DiMauro S, Schon E. Mitochondrial DNA mutations in human disease. Am J Hum Genet 2001; 106: 4-17
11. Duda RO, Hart PE, Stork PG. Pattern Classification. New York: Wiley-Interscience, 2000
12. Eickhoff B, Korn B, Schick M, Poutska A, van der Bosch J. Normalization of array hybridization experiments in differential gene expression analysis. Nucleic Acids Res 1999; 27: e33
13. Elliot RM, Southon S, Archer DB. Oxidative insult specifically decreases levels of a mitochondrial transcript. Free Radic Biol Med 1999; 26: 646-655
14. Goshal K, Jacob ST. Regulation of metallothionein gene expression. Prog Nucleic Acid Res Mol Biol 2001; 66: 357-384
15. Halgren RG, Fielden MR, Fong CJ, Zacharewski TR. Assessment of clone identity and sequence fidelity for 1189 IMAGE cDNA clones. Nucleic Acids Res 2001; 29: 582-588
16. Heddi A, Stepien G, Benke PJ, Wallace, DC. Coordinate induction of gene expression in tissues of mitochondrial disease. J Biol Chem 1999; 274: 22,968-22,976
17. Hegde P, Qi R, Abernathy K, Gay C, Dharap S, Gaspard R et al. A concise guide to cDNA microarray analysis. Biotechniques 2000; 29: 548-562
18. Ide T, Tsutsui H, Kinugawa S, Utsumi H, Kang D, Hattori N et al. Mitochondrial electron transport complex I is a potential source of oxygen free radicals in the failing myocardium. Circ Res 1999; 85: 357-363
19. Jacob ST, Ghoshal K, Sheridan JF. Induction of metallothionein by stress and its molecular mechanisms. Gene Expr 1999; 7: 301-310
20. Kawai K, Liu SX, Tyurin VA, Tyurina YY, Borisenko GG, Jiang JF et al. Antioxidant and antiapoptotic function of metallothioneins in HL-60 cells challenged with copper nitrilotriacetate. Chem Res Toxicol 2000; 13: 1275-1286
21. Lenaz G. Role of mitochondria in oxidative stress and ageing. Biochim Biophys Acta 1998; 1366: 53-67
22. Loeffen J, Elpeleg O, Smeitink J, Smeets R, Stockler-Ipsiroglu S, Mandel H et al. Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. Ann Neurol 2001; 49: 195-201
23. Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R et al. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet 1998; 63: 1598-1608
24. Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC et al. Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat 2000; 15: 123-134
25. Madamanchi NR, Li S, Patterson C, Runge MS. Reactive oxygen species regulate heat-shock protein 70 via the JAK/STAT pathway. Arterioscler Thromb Vasc Biol 2001; 21: 321-326
26. Melov S, Coskun PE, Wallace DC. Mouse models of mitochondrial disease, oxidative stress and senescence. Mutat Res 1999; 434: 233-242
27. Munnich A, Rustin, P. Clinical spectrum and diagnosis of mitochondrial disorders. Am J Med Genet 2001; 106: 4-17
28. Raha S, Robinson BH. Mitochondria, oxygen free radicals, disease and ageing. Trends Biochem Sci 2000; 25: 502-508
29. Robinson BH. Use of fiboblast and lymphoblast cultures for detection of respiratory chain defects. In: Attardi GM, Chomyn A (Eds). Mitochondrial Biogenesis and Genetics, Part B. Methods in Enzymology 264. New York: Academic Press, 1996: 454-465
30. Robinson BH, Petrovna-Benedict R, Buncic JR, Wallace, DC. Nonviability of cells with oxidative defects in galactose medium: a screening tests for affected patient fibroblasts. Biochem Med Metab Biol 1992; 48: 122-126
31. Rötig A, Valnot I, Mugnier C, Rustin P, Munnich, A. Screening human ETS database for identification of candidate genes in respiratory chain deficiency. Mol Genet Metab 2000; 69: 223-232
32. Smeitink J, van den Heuvel L, DiMauro S. The genetics and pathology of oxidative phosphorylation. Nat Rev Genet 2001; 2: 342-352
33. Smeitink J, Sengers R, Trijbels F, van den Heuvel, L. Human NADH:ubiquinone oxidoreductase. J Bioenerg Biomembr 2001; 33: 259-266
34. Smeitink J, van den Heuvel L. Human mitochondrial complex I in health and disease. Am J Hum Genet 1999; 64: 1505-1510
35. Srere PA. Citrate synthase, EC 4137 citrate oxaloacetate lyase (Co-A-acetylating). In: Lowenstein JM (Ed). Citric Acid Cycle. Methods in Enzymology 13. New York: Academic Press, 1969: 3-11
36. Thornalley PJ, Vasak M. Possible role for metallothionein in protection against radiation-induced oxidative stress. Kinetics and mechanism of its reaction with superoxide and hydroxyl radicals. Biochim Biophys Acta 1985; 827: 36-44
37. Traven A, Wong JM, Xu D, Sopta M, Ingles CJ. Interorganellar communication. Altered nuclear gene expression profiles in a yeast mitochondrial DNA mutant. J Biol Chem 2001; 276: 4020-4027
38. Triepels RH, van den Heuvel LP, Trijbels JM, Smeitink JA. Respiratory complex I deficiency. Am J Med Genet 2001; 106: 37-45
39. Wang GW, Zhou Z, Klein JB, Kang YJ. Inhibition of hypoxia/reoxygenation-induced apoptosis in metallothionein-overexpressing cardiomyocytes. Am J Physiol Heart Circ Physiol 2001; 280: H2292-H2299
40. Wei YH, Ma YS, Lee HC, Lee CF, Lu CY. Mitochondrial theory of aging matures - roles of mtDNA mutation and oxidative stress in human aging. Zhonghua Yi Xue Za Zhi (Taipei) 2001; 64: 259-270
41. Wendt CH, Gick G, Sharma R, Zhuang Y, Deng W, Ingbar DH. Upregulation of Na,K-ATPase beta 1 transcription by hyperoxia is mediated by SP1/SP3 binding. J Biol Chem 2000; 275: 41,396-41,404
42. Yakes FM, van Houten B. Mitochondrial DNA damage is more extensive and persists longer than nuclear DNA damage in human cells following oxidative stress. Proc Natl Acad Sci USA 1997; 94: 514-519