In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis

Cell Metabolism

Volumn 14, Issue 1, 2011, Pages 80-90

  Viscomi, Carlo ^a   Bottani, Emanuela ^a   Civiletto, Gabriele ^a   Cerutti, Raffaele ^a   Moggio, Maurizio ^b   Fagiolari, Gigliola ^b   Schon, Eric A ^c   Lamperti, Costanza ^a   Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c Columbia University ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 AMINO 4 IMIDAZOLECARBOXAMIDE RIBOSIDE; ADENOSINE PHOSPHATE; BEZAFIBRATE; CYTOCHROME C OXIDASE; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA COACTIVATOR 1ALPHA; PROTEIN KINASE;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; BIOGENESIS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME DEFICIENCY; FEMALE; IN VIVO STUDY; KNOCKOUT MOUSE; MITOCHONDRION; MOTOR ACTIVITY; MOUSE; MUSCLE; NONHUMAN; PRIORITY JOURNAL; RESPIRATORY CHAIN; SKELETAL MUSCLE;

AMINOIMIDAZOLE CARBOXAMIDE; AMP-ACTIVATED PROTEIN KINASES; ANIMALS; BEZAFIBRATE; CYTOCHROME-C OXIDASE DEFICIENCY; DISEASE MODELS, ANIMAL; ELECTRON TRANSPORT COMPLEX IV; GENE KNOCK-IN TECHNIQUES; HYPOGLYCEMIC AGENTS; HYPOLIPIDEMIC AGENTS; MEMBRANE PROTEINS; MICE; MICE, KNOCKOUT; MICE, TRANSGENIC; MITOCHONDRIAL PROTEINS; MUSCLE, SKELETAL; OXIDATIVE PHOSPHORYLATION; RIBONUCLEOTIDES; SIGNAL TRANSDUCTION; TRANS-ACTIVATORS;

ANIMALIA; MUS;

EID: 79959314684     PISSN: 15504131     EISSN: 19327420     Source Type: Journal    
DOI: 10.1016/j.cmet.2011.04.011     Document Type: Article

References (41)

1. H. Antonicka, A. Mattman, C.G. Carlson, D.M. Glerum, K.C. Hoffbuhr, S.C. Leary, N.G. Kennaway, and E.A. Shoubridge Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy Am. J. Hum. Genet. 72 2003 101 114 (Pubitemid 36056846)
2. G.D. Barish, V.A. Narkar, and R.M. Evans PPAR delta: a dagger in the heart of the metabolic syndrome J. Clin. Invest. 116 2006 590 597 (Pubitemid 43326863)
3. J. Bastin, F. Aubey, A. Rotig, A. Munnich, and F. Djouadi Activation of peroxisome proliferator activated receptor pathway stimulates the mitochondrial respiratory chain and can correct deficiencies in patients' cells lacking its components J. Clin. Endocrinol. Metab. 4 2008 1433 1441 (Pubitemid 351519745)
4. M. Bugiani, F. Invernizzi, S. Alberio, E. Briem, E. Lamantea, F. Carrara, I. Moroni, L. Farina, M. Spada, and M.A. Donati Clinical and molecular findings in children with complex I deficiency Biochim. Biophys. Acta 1659 2004 136 147 (Pubitemid 39575500)
5. M. Bugiani, V. Tiranti, L. Farina, G. Uziel, and M. Zeviani Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency J. Med. Genet. 42 2005 e28 10.1136/jmg.2004.029926
6. C. Cantó, and J. Auwerx AMP-activated protein kinase and its downstream transcriptional pathways Cell. Mol. Life Sci. 67 2010 3407 3423
7. C. Cantó, Z. Gerhart-Hines, J.N. Feige, M. Lagouge, L. Noriega, J.C. Milne, P.J. Elliott, P. Puigserver, and J. Auwerx AMPK regulates energy expenditure by modulating NAD+ metabolism and SIRT1 activity Nature 458 2009 1056 1060
8. G. Charach, I. Grosskopf, H.H. Rotmensch, I. Kitzis, and M. Weintraub Bezafibrates cause moderate, reversible impairment in renal function in patients without prior renal disease Nephron Clin. Pract. 100 2005 c120 c125
9. J.M. Corton, J.G. Gillespie, S.A. Hawley, and D.G. Hardie 5-aminoimidazole-4-carboxamide ribonucleoside. A specific method for activating AMP-activated protein kinase in intact cells? Eur. J. Biochem. 229 1995 558 565
10. L.M. Cree, S.K. Patel, A. Pyle, S. Lynn, D.M. Turnbull, P.F. Chinnery, and M. Walker Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets Diabetologia 51 2008 1440 1443
11. C. Dell'Agnello, S. Leo, A. Agostino, G. Szabadkai, C. Tiveron, A. Zulian, A. Prelle, P. Roubertoux, R. Rizzuto, and M. Zeviani Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice Hum. Mol. Genet. 16 2007 431 444 (Pubitemid 46323179)
12. V. Dubowitz Muscle Biopsy, A Practical Approach 2nd ed. 1985 Baillire Tindall London
13. S. Fogarty, S.A. Hawley, K.A. Green, N. Saner, K.J. Mustard, and D.G. Hardie Calmodulin-dependent protein kinase kinase-β activates AMPK without forming a stable complex: synergistic effects of Ca2+ and AMP Biochem. J. 426 2010 109 118
14. Z. Gerhart-Hines, J.T. Rodgers, O. Bare, C. Lerin, S.H. Kim, R. Mostoslavsky, F.W. Alt, Z. Wu, and P. Puigserver Metabolic control of muscle mitochondrial function and fatty acid oxidation through SIRT1/PGC-1alpha EMBO J. 26 2007 1913 1923 (Pubitemid 46624046)
15. S.J. Goldman, R. Taylor, Y. Zhang, and S. Jin Autophagy and the degradation of mitochondria Mitochondrion 10 2010 309 315
16. C. Handschin, and B.M. Spiegelman Peroxisome proliferator-activated receptor gamma coactivator 1 coactivators, energy homeostasis, and metabolism Endocr. Rev. 27 2006 728 735 (Pubitemid 44936056)
17. S. Jäger, C. Handschin, J. St-Pierre, and B.M. Spiegelman AMP-activated protein kinase (AMPK) action in skeletal muscle via direct phosphorylation of PGC-1alpha Proc. Natl. Acad. Sci. USA 104 2007 12017 12022 (Pubitemid 47185622)
18. D.P. Kelly, and R.C. Scarpulla Transcriptional regulatory circuits controlling mitochondrial biogenesis and function Genes Dev. 18 2004 357 368 (Pubitemid 38316342)
19. O. Khalimonchuk, and G. Rödel Biogenesis of cytochrome c oxidase Mitochondrion 5 2005 363 388 (Pubitemid 43013019)
20. S. Kleiner, V. Nguyen-Tran, O. Baré, X. Huang, B. Spiegelman, and Z. Wu PPAR{delta} agonism activates fatty acid oxidation via PGC-1{alpha} but does not increase mitochondrial gene expression and function J. Biol. Chem. 284 2009 18624 18633
21. M. Lagouge, C. Argmann, Z. Gerhart-Hines, H. Meziane, C. Lerin, F. Daussin, N. Messadeq, J. Milne, P. Lambert, and P. Elliott Resveratrol improves mitochondrial function and protects against metabolic disease by activating SIRT1 and PGC-1alpha Cell 127 2006 1109 1122 (Pubitemid 44894520)
22. S.C. Leary, F. Sasarman, T. Nishimura, and E.A. Shoubridge Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1 Hum. Mol. Genet. 18 2009 2230 2240
23. P. Lefebvre, G. Chinetti, J.C. Fruchart, and B. Staels Sorting out the roles of PPAR alpha in energy metabolism and vascular homeostasis J. Clin. Invest. 116 2006 571 580 (Pubitemid 43326861)
24. J. Lin, H. Wu, P.T. Tarr, C.-Y. Zhang, Z. Wu, O. Boss, L.F. Michael, P. Puigserver, E. Isotani, and E.N. Olson Transcriptional co-activator PGC-1α drives the formation of slow-twitch muscle fibers Nature 418 2002 797 801
25. S. Luquet, J. Lopez-Soriano, D. Holst, A. Fredenrich, J. Melki, M. Rassoulzadegan, and P.A. Grimaldi Peroxisome proliferator-activated receptor delta controls muscle development and oxidative capability FASEB J. 17 2003 2299 2301 (Pubitemid 39561472)
26. G.F. Merrill, E.J. Kurth, D.G. Hardie, and W.W. Winder AICA riboside increases AMP-activated protein kinase, fatty acid oxidation, and glucose uptake in rat muscle Am. J. Physiol. 273 1997 1107 1112
27. L.C. Papadopoulou, C.M. Sue, M.M. Davidson, K. Tanji, I. Nishino, J.E. Sadlock, S. Krishna, W. Walker, J. Selby, and D.M. Glerum Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene Nat. Genet. 23 1999 333 337 (Pubitemid 29526433)
28. M. Sciacco, and E. Bonilla Cytochemistry and immunocytochemistry of mitochondria in tissue sections Methods Enzymol. 264 1996 509 521 (Pubitemid 26089334)
29. S. Srivastava, F. Diaz, L. Iommarini, K. Aure, A. Lombes, and C.T. Moraes PGC-1alpha/beta induced expression partially compensates for respiratory chain defects in cells from patients with mitochondrial disorders Hum. Mol. Genet. 18 2009 1805 1812
30. G.R. Steinberg, and B.E. Kemp AMPK in health and disease Physiol. Rev. 89 2009 1025 1078
31. A. Tenenbaum, M. Motro, and E.Z. Fisman Dual and pan-peroxisome proliferator-activated receptors (PPAR) co-agonism: the bezafibrate lessons Cardiovasc. Diabetol. 16 2005 4 14
32. V. Tiranti, C. Galimberti, L. Nijtmans, S. Bovolenta, M.P. Perini, and M. Zeviani Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions Hum. Mol. Genet. 8 1999 2533 2540
33. C. Viscomi, A. Spinazzola, M. Maggioni, E. Fernandez-Vizarra, V. Massa, C. Pagano, R. Vettor, M. Mora, and M. Zeviani Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice Hum. Mol. Genet. 18 2009 12 26
34. D.C. Wallace A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine Annu. Rev. Genet. 39 2005 359 407 (Pubitemid 43011120)
35. D.C. Wallace Mitochondrial energetics and therapeutics Annu. Rev. Pathol. 5 2010 297 348
36. D.C. Wallace, and W. Fan Energetics, epigenetics, mitochondrial genetics Mitochondrion 10 2010 12 31
37. Y.X. Wang, C.L. Zhang, R.T. Yu, H.K. Cho, M.C. Nelson, C.R. Bayuga-Ocampo, J. Ham, H. Kang, and R.M. Evans Regulation of muscle fiber type and running endurance by PPARdelta PLoS Biol. 2 2004 e294 10.1371/journal.pbio. 0020294 (Pubitemid 39532914)
38. T. Wenz, F. Diaz, B.M. Spiegelman, and C.T. Moraes Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype Cell Metab. 8 2008 249 256
39. J. Wu, Y. Song, H. Li, and J. Chen Rhabdomyolysis associated with fibrate therapy: review of 76 published cases and a new case report Eur. J. Clin. Pharmacol. 65 2009 1169 1174
40. H. Yang, S. Brosel, R. Acin-Perez, V. Slavkovich, I. Nishino, R. Khan, I.J. Goldberg, J. Graziano, G. Manfredi, and E.A. Schon Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2 Hum. Mol. Genet. 19 2010 170 180
41. M. Zeviani, and S. Di Donato Mitochondrial disorders Brain 127 2004 2153 2172 (Pubitemid 39382225)