The inflammatory response in acyl-CoA oxidase 1 deficiency (pseudoneonatal adrenoleukodystrophy)

Endocrinology. 2012 Jun;153(6):2568-75. doi: 10.1210/en.2012-1137. Epub 2012 Apr 16.

Abstract

Among several peroxisomal neurodegenerative disorders, the pseudoneonatal adrenoleukodystrophy (P-NALD) is characterized by the acyl-coenzyme A oxidase 1 (ACOX1) deficiency, which leads to the accumulation of very-long-chain fatty acids (VLCFA) and inflammatory demyelination. However, the components of this inflammatory process in P-NALD remain elusive. In this study, we used transcriptomic profiling and PCR array analyses to explore inflammatory gene expression in patient fibroblasts. Our results show the activation of IL-1 inflammatory pathway accompanied by the increased secretion of two IL-1 target genes, IL-6 and IL-8 cytokines. Human fibroblasts exposed to very-long-chain fatty acids exhibited increased mRNA expression of IL-1α and IL-1β cytokines. Furthermore, expression of IL-6 and IL-8 cytokines in patient fibroblasts was down-regulated by MAPK, p38MAPK, and Jun N-terminal kinase inhibitors. Thus, the absence of acyl-coenzyme A oxidase 1 activity in P-NALD fibroblasts triggers an inflammatory process, in which the IL-1 pathway seems to be central. The use of specific kinase inhibitors may permit the modulation of the enhanced inflammatory status.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acyl-CoA Oxidase / deficiency
  • Acyl-CoA Oxidase / genetics*
  • Acyl-CoA Oxidase / metabolism
  • Cells, Cultured
  • Fatty Acids / pharmacology
  • Fibroblasts / drug effects
  • Fibroblasts / metabolism*
  • Fibroblasts / pathology
  • Gene Expression Regulation / drug effects
  • Humans
  • Immunohistochemistry
  • Inflammation / genetics*
  • Inflammation / metabolism
  • Inflammation Mediators / metabolism
  • Interleukin-1 / genetics
  • Interleukin-1 / metabolism
  • Interleukin-6 / genetics
  • Interleukin-6 / metabolism
  • Interleukin-8 / genetics
  • Interleukin-8 / metabolism
  • Oligonucleotide Array Sequence Analysis
  • Osteopontin / genetics
  • Osteopontin / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Transcriptome*

Substances

  • Fatty Acids
  • Inflammation Mediators
  • Interleukin-1
  • Interleukin-6
  • Interleukin-8
  • Osteopontin
  • hexacosanoic acid
  • Acyl-CoA Oxidase