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

HI El Hajj, A Vluggens, P Andreoletti, K Ragot… - …, 2012 - academic.oup.com
HI El Hajj, A Vluggens, P Andreoletti, K Ragot, S Mandard, S Kersten, HR Waterham
Endocrinology, 2012academic.oup.com
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 …
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.
Oxford University Press