Functional redundancy of mitochondrial enoyl-CoA isomerases in the oxidation of unsaturated fatty acids

FASEB J. 2012 Oct;26(10):4316-26. doi: 10.1096/fj.12-206326. Epub 2012 Jul 10.

Abstract

Mitochondrial enoyl-CoA isomerase (ECI1) is an auxiliary enzyme involved in unsaturated fatty acid oxidation. In contrast to most of the other enzymes involved in fatty acid oxidation, a deficiency of ECI1 has yet to be identified in humans. We used wild-type (WT) and Eci1-deficient knockout (KO) mice to explore a potential presentation of human ECI1 deficiency. Upon food withdrawal, Eci1-deficient mice displayed normal blood β-hydroxybutyrate levels (WT 1.09 mM vs. KO 1.10 mM), a trend to lower blood glucose levels (WT 4.58 mM vs. KO 3.87 mM, P=0.09) and elevated blood levels of unsaturated acylcarnitines, in particular C12:1 acylcarnitine (WT 0.03 μM vs. KO 0.09 μM, P<0.01). Feeding an olive oil-rich diet induced an even greater increase in C12:1 acylcarnitine levels (WT 0.01 μM vs. KO 0.04 μM, P<0.01). Overall, the phenotypic presentation of Eci1-deficient mice is mild, possibly caused by the presence of a second enoyl-CoA isomerase (Eci2) in mitochondria. Knockdown of Eci2 in Eci1-deficient fibroblasts caused a more pronounced accumulation of C12:1 acylcarnitine on incubation with unsaturated fatty acids (12-fold, P<0.05). We conclude that Eci2 compensates for Eci1 deficiency explaining the mild phenotype of Eci1-deficient mice. Hypoglycemia and accumulation of C12:1 acylcarnitine might be diagnostic markers to identify ECI1 deficiency in humans.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Blood Glucose / metabolism
  • Carbon-Carbon Double Bond Isomerases / genetics
  • Carbon-Carbon Double Bond Isomerases / metabolism*
  • Carnitine / analogs & derivatives
  • Carnitine / blood
  • Cells, Cultured
  • Chromatography, High Pressure Liquid
  • Dodecenoyl-CoA Isomerase
  • Fatty Acids, Unsaturated / metabolism*
  • Immunoblotting
  • Mass Spectrometry
  • Mice
  • Mice, Knockout
  • Mitochondria / enzymology*
  • Oxidation-Reduction
  • Real-Time Polymerase Chain Reaction

Substances

  • Blood Glucose
  • Fatty Acids, Unsaturated
  • acylcarnitine
  • Carbon-Carbon Double Bond Isomerases
  • Dodecenoyl-CoA Isomerase
  • ECI1 protein, human
  • ECI2 protein, human
  • Eci1 protein, mouse
  • Carnitine