Association of X-linked adrenoleukodystrophy with HLA DRB1 alleles

Biochem Biophys Res Commun. 1995 Nov 13;216(2):447-51. doi: 10.1006/bbrc.1995.2643.

Abstract

Inflammatory demyelination in the central nervous system in the childhood cerebral phenotype of X-linked adrenoleukodystrophy (X-ALD) bears resemblance to that of multiple sclerosis. With a view to an association of HLA class II genes, specifically HLA-DRB1 subtype DRB1*15 to multiple sclerosis we investigated the HLA class II DR haplotype in 29 unrelated X-ALD patients including 17 childhood cerebral phenotype patients. Our results did not show an association of DRB1*15 and X-ALD, but disclosed a significant association of HLA DRB1*16 alleles and X-ALD in general. This finding suggests that in addition to the X-chromosomal ALD gene an autosomal gene linked to the HLA class II region is involved in the pathogenesis of X-ALD. This gene should affect a pathomechanism common to all ALD variants, such as defective peroxisomal metabolism of very long chain fatty acids.

MeSH terms

  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / immunology*
  • Alleles
  • Brain / metabolism
  • Cells, Cultured
  • Child
  • DNA / blood
  • DNA / genetics
  • DNA / isolation & purification
  • Fibroblasts / immunology
  • Genes, MHC Class II
  • HLA-DR Antigens / genetics*
  • HLA-DRB1 Chains
  • Humans
  • Leukocytes / immunology
  • Multiple Sclerosis / genetics
  • Multiple Sclerosis / immunology
  • Phenotype
  • X Chromosome*

Substances

  • HLA-DR Antigens
  • HLA-DRB1 Chains
  • DNA