Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function

Sci Rep. 2018 Jan 9;8(1):153. doi: 10.1038/s41598-017-18530-4.

Abstract

Medium-chain acyl-Coenzyme A dehydrogenase (MCAD) is involved in the initial step of mitochondrial fatty acid β-oxidation (FAO). Loss of function results in MCAD deficiency, a disorder that usually presents in childhood with hypoketotic hypoglycemia, vomiting and lethargy. While the disruption of mitochondrial fatty acid metabolism is the primary metabolic defect, secondary defects in mitochondrial oxidative phosphorylation (OXPHOS) may also contribute to disease pathogenesis. Therefore, we examined OXPHOS activity and stability in MCAD-deficient patient fibroblasts that have no detectable MCAD protein. We found a deficit in mitochondrial oxygen consumption, with reduced steady-state levels of OXPHOS complexes I, III and IV, as well as the OXPHOS supercomplex. To examine the mechanisms involved, we generated an MCAD knockout (KO) using human 143B osteosarcoma cells. These cells also exhibited defects in OXPHOS complex function and steady-state levels, as well as disrupted biogenesis of newly-translated OXPHOS subunits. Overall, our findings suggest that the loss of MCAD is associated with a reduction in steady-state OXPHOS complex levels, resulting in secondary defects in OXPHOS function which may contribute to the pathology of MCAD deficiency.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acyl-CoA Dehydrogenase / deficiency*
  • Acyl-CoA Dehydrogenase / genetics
  • Acyl-CoA Dehydrogenase / metabolism
  • Cell Respiration
  • Cells, Cultured
  • DNA, Mitochondrial
  • Electron Transport Chain Complex Proteins / metabolism*
  • Fatty Acids / metabolism*
  • Fibroblasts / metabolism
  • Gene Deletion
  • Gene Knockout Techniques
  • Gene Targeting
  • Humans
  • Lipid Metabolism, Inborn Errors / genetics*
  • Lipid Metabolism, Inborn Errors / metabolism*
  • Mitochondria / genetics*
  • Mitochondria / metabolism*
  • Oxidative Phosphorylation
  • Protein Stability
  • Reactive Oxygen Species

Substances

  • DNA, Mitochondrial
  • Electron Transport Chain Complex Proteins
  • Fatty Acids
  • Reactive Oxygen Species
  • Acyl-CoA Dehydrogenase

Supplementary concepts

  • Medium chain acyl CoA dehydrogenase deficiency