… Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes. Glutaric acidemia type II: Gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene. The protein is a The protein is a heterodimer and the genes encoding the human a and b ETF subunits were ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Mostly depending on the severity of the mutation, the disease is divided into three subgroups: type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenital anomalies), and type III (late onset). In addition to the fetal complications, … A 3-month-old child … Anel, A.; Naval, J.; Gonzalez, B.; Torres, J.M. ; Hui, J.; Fung, S.L. ; funding acquisition, S.-H.K. We established four lymphoblastoid cell lines from P1, P2, a normal control (wild type, WT), and the Family I-1 (carrier 1, C1). ; Wang, S.F. oxidation of fatty acids begins at c arbon atom 3, t he β- carbo n, and th at the resulting β -ke to acids are cleaved between th e α -carbon and β -carb on to yield fatt y acids The native ETF protein contains one molecule of FAD and one molecule of AMP, respectively. mg protein (-1) under conditions of compromised antioxidant defense and reduced ubiquinone pool. Acetylation and succinylation of lysine residues and phosphorylation of serine and threonine residues in ETF-α have been reported in mass spectrometric analyses of posttranslational modifications P13804. DISCUSSION The long chain fatty acids selected for the present study are -the principal components of the free fatty acid … Fatty Acid Oxidation Fatty acid oxidation is also referred to as beta-oxidation because 2 carbon units are cleaved off at the beta-carbon position (2nd carbon from the acid … The total fatty acids and free fatty acids were extracted and quantified by negative ion chemical ionization gas chromatography coupled with mass spectrometry (GC-MS). ; Lam, C.W. ; Andresen, B.S. Group II ETFs may also receive electrons from ferredoxin or NADH.[12]. Human ETF receives electrons from at least 14 flavoenzymes and transfers them to ETF-ubiquinone oxidoreductases (ETF:QO) in the inner mitochondrial membrane. 2132 Fatty Acid Oxidation Rates Vol. It is an alternative pathway to beta oxidation that, instead of involving the β carbon, involves the oxidation of the ω carbon (the carbon most distant from the carboxyl group of the fatty acid). ; Wu, S.T. Fresh working solution was prepared by diluting the Oil Red O stock solution in distilled water in a 3:2 volume ratio and filtering before use. The biopsy tissue was divided into three. Huang, H.P. This research was funded by the grants from the Ministry of Science and Technology in Taiwan, grant number MOST 104-2320-B-038-034, MOST105-2320-B-052-MY3 and 103CFD2000055. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients", "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", "Electron transfer and conformational change in complexes of trimethylamine dehydrogenase and electron transferring flavoprotein", "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes", https://en.wikipedia.org/w/index.php?title=ETFA&oldid=997491733, Creative Commons Attribution-ShareAlike License, This page was last edited on 31 December 2020, at 19:36. ; Pompeia, C.; Verlengia, R.; Curi, R. Ranking the toxicity of fatty acids on Jurkat and Raji cells by flow cytometric analysis. Aliquots of 1 × 10, A stock solution of Nile Red (Sigma N-3013) in acetone (250 mg/mL) was prepared. ; Nishino, I. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. ; formal analysis, S.C., Y.-C.H. Received: 11 December 2018 / Revised: 24 January 2019 / Accepted: 28 January 2019 / Published: 31 January 2019, (This article belongs to the Special Issue, The electron-transfer flavoprotein dehydrogenase gene (, Multiple acyl-coenzyme A (CoA) dehydrogenase deficiency (MADD, MIM#231680), also known as glutaric aciduria type II, is an inherited, autosomal recessive disorder [, MADD primarily results from the absence and/or inactivity of either electron-transfer flavoprotein (ETF) or electron-transfer flavoprotein ubiquinone oxidoreductase (ETF-QO, also called ETFDH) [, In the present study, we identified homozygous double mutations, c.250G>A (p.Ala84Thr) and c.92C>T (p.Thr31Ile), that occurred in the MADD family (. ; Panzer, J.A. An inactivating mutation in the ETF:CoQ oxidoreductase will lead to an initial inhibition of which of the following enzymes in fatty acid oxidation? Brivet, M.; Slama, A.; Saudubray, J.M. ; Watson, C.T. Fatty Acid Oxidation. The flavoenzymes that transfer electrons to ETF are involved in fatty acid beta oxidation, amino acid catabolism, choline metabolism, and special metabolic pathways. It is composed of 12 exons. ; Jong, Y.J. Primer pairs covering 13 coding exons and the flanking intron splice sites were prepared and used to amplify DNA segments by polymerase chain reaction (PCR) using a DNA thermal cycler (Applied Biosystems GeneAmp PCR system 9700, Thermo Fisher Scientific, Foster City, CA, USA). Gregersen, N.; Andresen, B.S. Olsen, R.K.; Andresen, B.S. Spieker-Polet, H.; Polet, H. Requirement of a combination of a saturated and an unsaturated free fatty acid and a fatty acid carrier protein for in vitro growth of lymphocytes. To investigate the respiratory capacity of the cells, intact cellular respiration was detected by the Seahorse XF24 Metabolic Flux assay (Agilent Seahorse Bioscience, Chicopee, MA, USA). Angelini, C.; Nascimbeni, A.C.; Cenacchi, G.; Tasca, E. Lipolysis and lipophagy in lipid storage myopathies. ; Gregersen, N.; Brivet, M.; Rabier, D.; Napuri-Gouel, S.; Dobbelaere, D.; Mention-Mulliez, K.; Martin-Ponthieu, A.; et al. Defects in either of the ETF subunits or ETFDH cause multiple acyl CoA dehydrogenase deficiency (OMIM # 231680),[10] earlier called glutaric acidemia type II. ; Hwu, W.L. Little is known about its promoter and transcriptional regulation. ; Dean, J.C.; Cornelius, N.; et al. We thank Simon Silver for editing the manuscript. The best studied group are group I ETFs that in eukaryotic cells are localized in the mitochondrial matrix space. SUPPORT | https://www.gofundme.com/ninja-nerd-scienceNinja nerds,Join us for part 1 of this two part series on fatty acid oxidation.