Electron transfer flavoprotein deficiency: Functional and molecular aspects

Molecular Genetics and Metabolism

Volumn 88, Issue 2, 2006, Pages 153-158

  Schiff, Manuel ^a   Froissart, Roseline ^a   Olsen, Rikke K J ^b   Acquaviva, Cécile ^a   Vianey Saban, Christine ^a  

^a HÔPITAL DEBROUSSE   (France)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Electron transfer flavoprotein; Glutaric aciduria type II; Multiple acyl CoA dehydrogenase deficiency

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ELECTRON TRANSFERRING FLAVOPROTEIN;

ACYL COENZYME A DEHYDROGENASE DEFICIENCY; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST; DISEASE SEVERITY; ELECTRON TRANSFER FLAVOPROTEIN DEFICIENCY; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; HUMAN TISSUE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DEFECT; RELIABILITY; TISSUE SECTION; WESTERN BLOTTING;

ACYL-COA DEHYDROGENASE; BLOTTING, WESTERN; COHORT STUDIES; ELECTRON-TRANSFERRING FLAVOPROTEINS; HUMANS; IRON-SULFUR PROTEINS; METABOLISM, INBORN ERRORS; MITOCHONDRIAL DISEASES; MUTATION; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; PHENOTYPE;

EID: 33646408518     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.01.009     Document Type: Article

References (23)

1. Vergani L., Barile M., Angelini C., Burlina A.B., Nijtmans L., Freda M.P., et al. Riboflavin therapy. Biochemical heterogeneity in two adult lipid storage myopathies. Brain 122 (1999) 2401-2411
2. Roberts D.L., Frerman F.E., and Kim J.J. Three-dimensional structure of human electron transfer flavoprotein to 2.1-Å resolution. Proc. Natl. Acad. Sci. USA 93 (1996) 14355-14360
3. Ikeda Y., Keese S.M., and Tanaka K. Biosynthesis of electron transfer flavoprotein in a cell-free system and in cultured human fibroblasts. Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II. J. Clin. Invest. 78 (1986) 997-1002
4. Simkovic M., Degala G.D., Eaton S.S., and Frerman F.E. Expression of human electron transfer flavoprotein-ubiquinone oxidoreductase from a baculovirus vector: kinetic and spectral characterization of the human protein. Biochem. J. 364 (2002) 659-667
5. Rhead W.J., Wolff J.A., Lipson M., Falace P., Desai N., Fritchman K., et al. Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders. Pediatr. Res. 21 (1987) 371-376
6. Loehr J.P., Goodman S.I., and Frerman F.E. Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes. Pediatr. Res. 27 (1990) 311-315
7. Indo Y., Glassberg R., Yokota I., and Tanaka K. Molecular characterization of variant alpha subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient. Am. J. Hum. Genet. 49 (1991) 575-580
8. Freneaux E., Sheffield V.C., Molin L., Shires A., and Rhead W.J. Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients. J. Clin. Invest. 90 (1992) 1679-1686
9. Colombo I., Finocchiaro G., Garavaglia B., Garbuglio N., Yamaguchi S., Frerman F.E., et al. Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II. Hum. Mol. Genet. 3 (1994) 429-435
10. Salazar D., Zhang L., deGala G.D., and Frerman F.E. Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein. J. Biol. Chem. 272 (1997) 26425-26433
11. Purevjav E., Kimura M., Takusa Y., Ohura T., Tsuchiya M., Hara N., et al. Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II. Eur. J. Clin. Invest. 32 (2002) 707-712
12. Olsen R.K., Andresen B.S., Christensen E., Bross P., Skovby F., and Gregersen N. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum. Mutat. 22 (2003) 12-23
13. Curcoy A., Olsen R.K., Ribes A., Trenchs V., Vilaseca M.A., Campistol J., et al. Late-onset form of beta-electron transfer flavoprotein deficiency. Mol. Genet. Metab. 78 (2003) 247-249
14. Amendt B.A., and Rhead W.J. The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts. J. Clin. Invest. 78 (1986) 205-213
15. Finocchiaro G., Ito M., and Tanaka K. Purification and properties of short chain acyl-CoA, medium chain acyl-CoA, and isovaleryl-CoA dehydrogenases from human liver. J. Biol. Chem. 262 (1987) 7982-7989
16. Smith P.K., Krohn R.I., Hermanson G.T., Mallia A.K., Gartner F.H., Provenzano M.D., et al. Measurement of protein using bicinchoninic acid. Anal. Biochem. 150 (1985) 76-85
17. Wanders R.J., IJlst L., van Gennip A.H., Jakobs C., de Jager J.P., Dorland L., et al. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation. J. Inherit. Metab. Dis. 13 (1990) 311-314
18. Bertrand C., Dumoulin R., Divry P., Mathieu M., and Vianey-Saban C. Purification of electron transfer flavoprotein from pig liver mitochondria and its application to the diagnosis of deficiencies of acyl-CoA dehydrogenases in human fibroblasts. Clin. Chim. Acta 210 (1992) 75-91
19. Bross P., Pedersen P., Winter V., Nyholm M., Johansen B.N., Olsen R.K.J., et al. A polymorphic variant in the human electron transfer flavoprotein α-chain (α-T171) displays decreased thermal stability and is overrepresented in VLCAD patients with mild childhood presentation. Mol. Genet. Metab. 67 (1999) 138-147
20. Gregersen N. Riboflavin-responsive defects of beta-oxidation. J. Inherit. Metab. Dis. 8 Suppl. 1 (1985) 65-69
21. Rhead W., Roettger V., Marshall T., and Amendt B. Multiple acyl-coenzyme A dehydrogenation disorder responsive to riboflavin: substrate oxidation, flavin metabolism, and flavoenzyme activities in fibroblasts. Pediatr. Res. 33 (1993) 129-135
22. Olsen R.K.J., Andresen B.S., Gregersen N., Miedzybrodska Z., Pourfarzam M., Merinero B., et al. The molecular basis of riboflavin-responsive multiple acyl-coA dehydrogenation deficiency. J. Inherit. Metab. Dis. 28 Suppl. 1 (2005) 116
23. Spaan A.N., Ijlst L., van Roermund C.W., Wijburg F.A., Wanders R.J., and Waterham H.R. Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-coA dehydrogenase deficiency. Mol. Genet. Metab. 86 (2005) 441-447