Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency

Journal of Proteomics

Volumn 75, Issue 1, 2011, Pages 221-228

  Rocha, H ^a,b   Ferreira, R ^b   Carvalho, J ^b   Vitorino, R ^b   Santa, C ^b   Lopes, L ^a   Gregersen, N ^c   Vilarinho, L ^a   Amado, F ^b  

^a NATIONAL INSTITUTE OF HEALTH   (Portugal)

^b UNIVERSITY OF AVEIRO   (Portugal)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Fatty acid oxidation; MADD; Mitochondrial dysfunction; Mitochondrial proteome

Indexed keywords

ELECTRON TRANSFERRING FLAVOPROTEIN; HEAT SHOCK PROTEIN 60; MITOCHONDRIAL PROTEIN; PROTEOME; FATTY ACID; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

APOPTOSIS; ARTICLE; CONTROLLED STUDY; ELECTRONTRANSFER FLAVOPROTEIN UBIQUINONE OXIDOREDUCTASE DEFICIENCY; FIBROBLAST; HUMAN; HUMAN CELL; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN FOLDING; TANDEM MASS SPECTROMETRY; TWO DIMENSIONAL ELECTROPHORESIS; WESTERN BLOTTING; CASE CONTROL STUDY; CHEMISTRY; GENETICS; HOSPITALIZATION; METABOLISM; MITOCHONDRION; MUTATION; OXIDATION REDUCTION REACTION; PATHOLOGY;

CASE-CONTROL STUDIES; ELECTRON TRANSPORT COMPLEX I; ELECTRON-TRANSFERRING FLAVOPROTEINS; FATTY ACIDS; FIBROBLASTS; HUMANS; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MUTATION; OXIDATION-REDUCTION; PHENOTYPE; PROTEIN BINDING; PROTEIN FOLDING; PROTEOME; SEVERITY OF ILLNESS INDEX;

EID: 84858712037     PISSN: 18743919     EISSN: 18767737     Source Type: Journal    
DOI: 10.1016/j.jprot.2011.04.025     Document Type: Article

References (30)

1. Houten S.M., Wanders R.J. A general introduction to the biochemistry of mitochondrial fatty acid beta-oxidation. J Inherit Metab Dis 2010, 33:469-477.
2. Vockley J., Whiteman D.A. Defects of mitochondrial beta-oxidation: a growing group of disorders. Neuromuscul Disord 2002, 12:235-246.
3. Gregersen N., Olsen R.K. Disease mechanisms and protein structures in fatty acid oxidation defects. J Inherit Metab Dis 2010, 33(5):547-553.
4. Olsen R.K., Olpin S.E., Andresen B.S., Miedzybrodzka Z.H., Pourfarzam M., Merinero B., et al. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 2007, 130:2045-2054.
5. Gregersen N., Andresen B.S., Corydon M.J., Corydon T.J., Olsen R.K., Bolund L., et al. Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat 2001, 18:169-189.
6. Olsen R.K., Andresen B.S., Christensen E., Bross P., Skovby F., Gregersen N. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat 2003, 22:12-23.
7. Liang W.C., Ohkuma A., Hayashi Y.K., Lopez L.C., Hirano M., Nonaka I., et al. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord 2009, 19:212-216.
8. Gregersen N., Andresen B.S., Pedersen C.B., Olsen R.K., Corydon T.J., Bross P. Mitochondrial fatty acid oxidation defects-remaining challenges. J Inherit Metab Dis 2008, 31:643-657.
9. Bennett M.J. Pathophysiology of fatty acid oxidation disorders. J Inherit Metab Dis 2009, 33(5):533-537.
10. Schwab M.A., Kolker S., van den Heuvel L.P., Sauer S., Wolf N.I., Rating D., et al. Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts. Clin Chem 2005, 51:151-160.
11. Vitorino R., Ferreira R., Neuparth M., Guedes S., Williams J., Tomer K.B., et al. Subcellular proteomics of mice gastrocnemius and soleus muscles. Anal Biochem 2007, 366:156-169.
12. Simon N., Morin C., Urien S., Tillement J.P., Bruguerolle B. Tacrolimus and sirolimus decrease oxidative phosphorylation of isolated rat kidney mitochondria. Br J Pharmacol 2003, 138:369-376.
13. Ferreira R., Vitorino R., Alves R.M., Appell H.J., Powers S.K., Duarte J.A., et al. Subsarcolemmal and intermyofibrillar mitochondria proteome differences disclose functional specializations in skeletal muscle. Proteomics 2010, 10:3142-3154.
14. Watmough NJ, Frerman FE. The electron transfer flavoprotein:ubiquinone oxidoreductases. Biochim Biophys Acta 2010;1797:1910-6.
15. Baker M.J., Frazier A.E., Gulbis J.M., Ryan M.T. Mitochondrial protein-import machinery: correlating structure with function. Trends Cell Biol 2007, 17:456-464.
16. Stojanovski D., Johnston A.J., Streimann I., Hoogenraad N.J., Ryan M.T. Import of nuclear-encoded proteins into mitochondria. Exp Physiol 2003, 88:57-64.
17. Palmfeldt J., Vang S., Stenbroen V., Pedersen C.B., Christensen J.H., Bross P., et al. Mitochondrial proteomics on human fibroblasts for identification of metabolic imbalance and cellular stress. Proteome Sci 2009, 7:20.
18. Tatsuta T., Langer T. Quality control of mitochondria: protection against neurodegeneration and ageing. EMBO J 2008, 27:306-314.
19. Voos W. Mitochondrial protein homeostasis: the cooperative roles of chaperones and proteases. Res Microbiol 2009, 160:718-725.
20. Schmidt SP, Corydon TJ, Pedersen CB, Vang S, Palmfeldt J, Stenbroen V, et al. Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase. J Inherit Metab Dis 2011;34(2):465-75.
21. Gregersen N., Bross P., Vang S., Christensen J.H. Protein misfolding and human disease. Annu Rev Genomics Hum Genet 2006, 7:103-124.
22. Gregersen N., Bross P. Protein misfolding and cellular stress: an overview. Methods Mol Biol 2010, 648:3-23.
23. Schmidt S.P., Corydon T.J., Pedersen C.B., Bross P., Gregersen N. Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress. Mol Genet Metab 2010, 100:155-162.
24. Song Y., Selak M.A., Watson C.T., Coutts C., Scherer P.C., Panzer J.A., et al. Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD). PLoS One 2009, 4:e8329.
25. Wallace D.C. A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annu Rev Genet 2005, 39:359-407.
26. Verhagen A.M., Ekert P.G., Pakusch M., Silke J., Connolly L.M., Reid G.E., et al. Identification of DIABLO, a mammalian protein that promotes apoptosis by binding to and antagonizing IAP proteins. Cell 2000, 102:43-53.
27. Dan H.C., Sun M., Kaneko S., Feldman R.I., Nicosia S.V., Wang H.G., et al. Akt phosphorylation and stabilization of X-linked inhibitor of apoptosis protein (XIAP). J Biol Chem 2004, 279:5405-5412.
28. Kizhakkayil J, Thayyullathil F, Chathoth S, Hago A, Patel M, Galadari S. Modulation of curcumin-induced Akt phosphorylation and apoptosis by PI3K inhibitor in MCF-7 cells. Biochem Biophys Res Commun 2010;394:476-81.
29. Huang J., Hao L., Xiong N., Cao X., Liang Z., Sun S., et al. Involvement of glyceraldehyde-3-phosphate dehydrogenase in rotenone-induced cell apoptosis: relevance to protein misfolding and aggregation. Brain Res 2009, 1279:1-8.
30. Tarze A., Deniaud A., Le Bras M., Maillier E., Molle D., Larochette N., et al. GAPDH, a novel regulator of the pro-apoptotic mitochondrial membrane permeabilization. Oncogene 2007, 26:2606-2620.