A polymorphic position in electron transfer flavoprotein modulates kinetic stability as evidenced by thermal stress

FEBS Letters

Volumn 585, Issue 3, 2011, Pages 505-510

  Henriques, Bárbara J ^a   Fisher, Mark T ^b   Bross, Peter ^c   Gomes, Cláudio M ^a  

^a INSTITUTO DE TECNOLOGIA QUÍMICA E BIOLÓGICA   (Portugal)

^b UNIVERSITY OF KANSAS MEDICAL CENTER   (United States)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Chaperonin; Electron transfer; Fatty acid metabolism; Flavoprotein; Genetic polymorphism; Protein stability

Indexed keywords

BUFFER; ELECTRON TRANSFERRING FLAVOPROTEIN; ELECTRON TRANSFERRING FLAVOPROTEIN ALPHA; FLAVINE ADENINE NUCLEOTIDE; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DENATURATION; ENZYME ACTIVATION; ENZYME ACTIVITY; ENZYME KINETICS; ENZYME STABILITY; GENETIC VARIABILITY; NONHUMAN; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DEPLETION; SINGLE NUCLEOTIDE POLYMORPHISM; STOICHIOMETRY; TEMPERATURE STRESS; THERMODYNAMICS;

AMINO ACID SUBSTITUTION; CHAPERONIN 60; CIRCULAR DICHROISM; ELECTRON-TRANSFERRING FLAVOPROTEINS; ESCHERICHIA COLI PROTEINS; FEVER; FLAVIN-ADENINE DINUCLEOTIDE; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENETIC ASSOCIATION STUDIES; HOT TEMPERATURE; HUMANS; KINETICS; POLYMORPHISM, GENETIC; PROTEIN CONFORMATION; PROTEIN DENATURATION; PROTEIN STABILITY; RECOMBINANT PROTEINS; SPECTROMETRY, FLUORESCENCE; SPECTROPHOTOMETRY;

EID: 79551482638     PISSN: 00145793     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.febslet.2011.01.002     Document Type: Article

References (27)

1. R.K. Olsen ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency Brain 130 2007 2045 2054
2. S. Ghisla, and C. Thorpe Acyl-CoA dehydrogenases Eur. J. Biochem. 271 2004 494 508
3. D.L. Roberts, F.E. Frerman, and J.J. Kim Three-dimensional structure of human electron transfer flavoprotein to 2.1-A resolution Proc. Natl. Acad. Sci. USA 93 1996 14355 14360
4. H.S. Toogood, A. van Thiel, J. Basran, M.J. Sutcliffe, N.S. Scrutton, and D. Leys Extensive domain motion and electron transfer in the human electron transferring flavoprotein·medium chain acyl-CoA dehydrogenase complex J. Biol. Chem. 279 2004 32904 32912
5. F.E. Frerman, S.I. Goodman, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, K.W. Kinzler, and B. Vogelstein Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase: glutaric acidemia type II C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, K.W. Kinzler, B. Vogelstein, The Metabolic and Molecular Basis of Inherited Disease 8th ed. 2001 McGrawHill New York 2357 2365
6. P. Bross A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation Mol. Genet. Metab. 67 1999 138 147
7. B.S. Andresen Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency Am. J. Hum. Genet. 64 1999 479 494
8. M.C. McKean, J.D. Beckmann, and F.E. Frerman Subunit structure of electron transfer flavoprotein J. Biol. Chem. 258 1983 1866 1870
9. P.A. Voziyan, and M.T. Fisher Chaperonin-assisted folding of glutamine synthetase under nonpermissive conditions: off-pathway aggregation propensity does not determine the co-chaperonin requirement Protein Sci. 9 2000 2405 2412
10. W. Rhead, V. Roettger, T. Marshall, and B. Amendt Multiple acyl-coenzyme A dehydrogenation disorder responsive to riboflavin: substrate oxidation, flavin metabolism, and flavoenzyme activities in fibroblasts Pediatr. Res. 33 1993 129 135
11. D.H. Craig, T. Barna, P.C. Moody, N.C. Bruce, S.K. Chapman, A.W. Munro, and N.S. Scrutton Effects of environment on flavin reactivity in morphinone reductase: analysis of enzymes displaying differential charge near the N-1 atom and C-2 carbonyl region of the active-site flavin Biochem. J. 359 2001 315 323
12. H.S. Toogood, A. van Thiel, N.S. Scrutton, and D. Leys Stabilization of non-productive conformations underpins rapid electron transfer to electron-transferring flavoprotein J. Biol. Chem. 280 2005 30361 30366
13. C.L. Tsou Active site flexibility in enzyme catalysis Ann. N. Y. Acad. Sci. 864 1998 1 8
14. H. Li, S. Fukuda, Y. Hasegawa, J. Purevsuren, H. Kobayashi, Y. Mushimoto, and S. Yamaguchi Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. 878 2010 1669 1672
15. F.U. Hartl, and M. Hayer-Hartl Converging concepts of protein folding in vitro and in vivo Nat. Struct. Mol. Biol. 16 2009 574 581
16. J. Martin, A.L. Horwich, and F.U. Hartl Prevention of protein denaturation under heat stress by the chaperonin Hsp60 Science 258 1992 995 998
17. R.K. Olsen, B.S. Andresen, E. Christensen, P. Bross, F. Skovby, and N. Gregersen Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency Hum. Mutat. 22 2003 12 23
18. B.S. Andresen The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? Hum. Mol. Genet. 6 1997 695 707
19. P. Bross Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme J. Biol. Chem. 270 1995 10284 10290
20. T.J. Corydon Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria J. Biol. Chem. 273 1998 13065 13071
21. C.B. Pedersen, P. Bross, V.S. Winter, T.J. Corydon, L. Bolund, K. Bartlett, J. Vockley, and N. Gregersen Misfolding, degradation, and aggregation of variant proteins: the molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency J. Biol. Chem. 278 2003 47449 47458
22. N. Gregersen, B.S. Andresen, C.B. Pedersen, R.K. Olsen, T.J. Corydon, and P. Bross Mitochondrial fatty acid oxidation defects - remaining challenges J. Inherit. Metab. Dis. 31 2008 643 657
23. E.M. Maier Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening Hum. Mol. Genet. 18 2009 1612 1623
24. N. Zhong, G. Ramaswamy, and K.H. Weisgraber Apolipoprotein E4 domain interaction induces endoplasmic reticulum stress and impairs astrocyte function J. Biol. Chem. 284 2009 27273 27280
25. C.J. Sigurdson A molecular switch controls interspecies prion disease transmission in mice J. Clin. Invest. 120 2010 2590 2599
26. S.G. Burgess, H.L. Messiha, G. Katona, S.E. Rigby, D. Leys, and N.S. Scrutton Probing the dynamic interface between trimethylamine dehydrogenase (TMADH) and electron transferring flavoprotein (ETF) in the TMADH-2ETF complex: role of the Arg-alpha237 (ETF) and Tyr-442 (TMADH) residue pair Biochemistry 47 2008 5168 5181
27. K.K. Chohan, M. Jones, J.G. Grossmann, F.E. Frerman, N.S. Scrutton, and M.J. Sutcliffe Protein dynamics enhance electronic coupling in electron transfer complexes J. Biol. Chem. 276 2001 34142 34147