Decreased agonist-stimulated mitochondrial ATP production caused by a pathological reduction in endoplasmic reticulum calcium content in human complex I deficiency

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1762, Issue 1, 2006, Pages 115-123

  Visch, Henk Jan ^b,c   Koopman, Werner J H ^a,b   Leusink, Anouk ^b   Van Emst De Vries, Sjenet E ^b   Van Den Heuvel, Lambertus W P J ^c   Willems, Peter H G M ^a,b,d   Smeitink, Jan A M ^c  

^a Microscopical Imaging Center for Molecular Life Sciences   (Netherlands)

^b Department of Biochemistry for Molecular Life Sciences ^*  (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

ATP; Bradykinin; Complex I deficiency; ER calcium content; Mitochondria

Indexed keywords

ADENOSINE TRIPHOSPHATE; AEQUORIN; BRADYKININ; CALCIUM; LUCIFERASE; THAPSIGARGIN;

ARTICLE; CALCIUM CELL LEVEL; CALCULATION; COMPLEX I DEFICIENCY; CONTROLLED STUDY; CYTOSOL; ENDOPLASMIC RETICULUM; GENETICS; HUMAN; HUMAN CELL; MITOCHONDRION; PATHOLOGY; PRIORITY JOURNAL; REGRESSION ANALYSIS; SKIN FIBROBLAST; STIMULATION;

ADENOSINE TRIPHOSPHATE; ADULT; BRADYKININ; CALCIUM; CALCIUM SIGNALING; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; ELECTRON TRANSPORT COMPLEX I; ENDOPLASMIC RETICULUM; FIBROBLASTS; HUMANS; INFANT; INFANT, NEWBORN; MITOCHONDRIA;

EID: 29644439802     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2005.09.001     Document Type: Article

References (43)

1. M.R. Duchen Mitochondria in health and disease: perspectives on a new mitochondrial biology Mol. Aspects Med. 25 2004 365 451
2. 2+ revealed by specifically targeted recombinant aequorin Nature 358 1992 325 327
3. L.S. Jouaville, P. Pinton, C. Bastianutto, G.A. Rutter, and R. Rizzuto Regulation of mitochondrial ATP synthesis by calcium: evidence for a long-term metabolic priming Proc. Natl. Acad. Sci. U. S. A. 96 1999 13807 13812
4. 2+ handling in human complex I deficiency J. Biol. Chem. 279 2004 40328 40336
5. D.G. Nicholls, S. Vesce, L. Kirk, and S. Chalmers Interactions between mitochondrial bioenergetics and cytoplasmic calcium in cultured cerebrellar granule cells Cell Calcium. 34 2003 407 424
6. A.M. Das Regulation of mitochondrial ATP-synthase in health and disease Mol. Genet. Metab. 79 2003 71 82
7. B. Korzeniewski The modeling of oxidative phosphorylation in skeletal muscle Jpn. J. Physiol. 54 2004 511 516
8. J.G. McCormack, A.P. Halestrap, and R.M. Denton Role of calcium ions in the regulation of mammalian intramitochondrial metabolism Physiol. Rev. 70 1990 391 425
9. 2+-binding to citrate cycle dehydrogenases Int. J. Biochem. 22 1990 1081 1088
10. G. Hajnóczky, L.D. Robb-Gaspers, M.B. Seitz, and A.P. Thomas Decoding of cytosolic calcium oscillations in the mitochondria Cell 85 1995 415 424
11. L.D. Robb-Gaspers, P. Burnett, G.A. Rutter, R.M. Denton, R. Rizutto, and A.P. Thomas Integrating cytosolic calcium signals into mitochondrial metabolic responses EMBO J. 17 1998 4987 5000
12. A.M. Das, D.J. Byrd, and J. Brodehl Regulation of the mitochondrial ATP-synthase in human fibroblasts Clin. Chim. Acta 231 1994 61 68
13. A.M. Das Regulation of mitochondrial ATP synthase activity in human myocardium Clin. Sci. (Lond.) 94 1998 499 504
14. 2+-stimulated aspartate/glutamate transporters in mitochondria EMBO J. 20 2001 5060 5069
15. 2+-sensitive aspartate/glutamate carrier increases mitochondrial ATP production in agonist-stimulated Chinese hamster ovary cells J. Biol. Chem. 278 2003 38686 38692
16. T.E. Gunter, D.I. Yule, K.K. Gunter, R.A. Eliseev, and J.D. Salter Calcium and mitochondria FEBS Lett. 567 2004 96 102
17. J.A.M. Smeitink, L.P. van den Heuvel, and S. DiMauro The genetics and pathology of oxidative phosphorylation Nat. Rev., Genet. 2 2001 342 352
18. J.A.M. Smeitink, S. Sengers, F. Trijbels, and L.P. van den Heuvel Human NADH:ubiquinone oxidoreductase J. Bioenerg. Biomembr. 33 2001 259 266
19. R. Vogel, L. Nijtmans, C. Ugalde, L.P. van den Heuvel, and J.A.M. Smeitink Complex I assembly: a puzzling problem Curr. Opin. Neurol. 17 2004 179 186
20. J. Hirst, J. Carroll, I.M. Fearnely, R.J. Shannon, and J. Walker The nuclear encoded subunits of complex I from bovine heart mitochondria Biochim. Biophys. Acta 1604 2003 135 150
21. J.A.M. Smeitink, and L.P. van den Heuvel Human mitochondrial complex I in health and disease Am. J. Hum. Genet. 64 1999 1505 1510
22. P. Benit, D. Chretien, N. Kadhom, P. de Lonlay-Debeney, V. Cormier-Daire, A. Cabral, S. Peudenier, P. Rustin, A. Munnich, and A. Rotig Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency Am. J. Hum. Genet. 68 2001 1344 1352
23. P. Benit, A. Slama, F. Cartault, I. Giurgea, D. Chretien, S. Lebon, C. Marsac, A. Munnich, A. Rotig, and P. Rustin Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome J. Med. Genet. 41 2004 14 17
24. D.M. Kirby, R. Salemi, C. Sugiana, A. Ohtake, L. Parry, K.M. Bell, E.P. Kirk, A. Boneh, R.W. Taylor, H.H. Dahl, M.T. Ryan, and D.R. Thorburn NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency J. Clin. Invest. 114 2004 837 845
25. C. Ugalde, R.J. Janssen, L.P. van den Heuvel, J.A.M. Smeitink, and L.G. Nijtmans Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency Hum. Mol. Genet. 13 2004 659 667
26. J.L. Loeffen, O. Elpeleg, J.A.M. Smeitink, R. Smeets, S. Stöckler-Ipsiroglu, H. Mandel, R. Sengers, F. Trijbels, and L.P. van den Heuvel Mutations in the complex I NDUFS2 gene of patient with cardiomyopathy and encephalomyopathy Ann. Neurol. 49 2001 195 201
27. L.P. van den Heuvel, W. Ruitenbeek, R. Smeets, Z. Gelman-Kohan, O. Elpeleg, J. Loeffen, F. Trijbels, E. Mariman, D. de Bruijn, and J.A.M. Smeitink 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 1998 262 268
28. S.M. Budde, L.P. van den Heuvel, A.J. Janssen, R.J. Smeets, C.A. Buskens, L. DeMeirleir, R. van Coster, M. Baethmann, T. Voit, J.M. Trijbels, and J.A. Smeitink Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene Biochem. Biophys. Res. Commun. 275 2000 63 68
29. R.H. Triepels, L.P. van den Heuvel, J.L. Loeffen, C.A. Buskens, R.J. Smeets, M.E. Rubio Gozalbo, E.C. Mariman, F.A. Wijburg, P.G. Barth, J.M. Trijbels, and J.A.M. Smeitink Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I Ann. Neurol. 45 1999 787 790
30. M. Schuelke, J.A.M. Smeitink, E. Mariman, J. Loeffen, B. Plecko, F. Trijbels, S. Stöckler-Ipsiroglu, and L.P. van den Heuvel Mutant NDUFV1 subunit of complex I causes leukodystrophy and myoclonic epilepsy Nat. Genet. 21 1999 260 261
31. 2+ oscillations and insulin secretion in pancreatic islets Biochem. J. 353 2001 175 180
32. V.A. Luckow, S.C. Lee, G.F. Barry, and P.O. Olins Efficient generation of infectious recombinant baculoviruses by site-specific transposon-mediated insertion of foreign genes into a baculovirus genome propagated Escherichia coli J. Virol. 67 1993 4566 4579
33. C), A critical evaluation J. Biol. Chem. 270 1995 9896 9903
34. 2+ release by inositol 1,4,5-trisphosphate in permeabilized pancreatic acinar cells J. Biol. Chem. 269 1993 12438 12443
35. 2+ leak across the endoplasmic reticular membrane J. Biol. Chem. 278 2003 13672 13679
36. 2+ store in skeletal muscle J. Biol. Chem. 277 2002 5275 5278
37. A.M. Das, and K. Ullrich Dysregulation of the mitochondrial ATP-synthase in respiratory chain defects: first experience J. Inherit. Metab. Dis. 21 1998 220 223
38. 2+ liaison Sci. STKE 13 2004 (Jan) 215 (re1)
39. 2+ pool depletion Oncogene 12 1996 2051 2055
40. S. Pitkänen, and B.H. Robinson Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase J. Clin. Invest. 98 1996 345 351
41. W.J.H. Koopman, H.J. Visch, S. Verkaart, L.P. van den Heuvel, J.A.M. Smeitink, and P.H.G.M. Willems Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency Am. J. Physiol., Cell Physiol. 289 2005 C881 C890
42. 2+-mediated apoptosis Mol. Cell 16 2004 59 68
43. --mediated mitochondrial outgrowth Am. J. Physiol., Cell Physiol. 288 2005 C1440 C1450