Berger J, Bernheimer H, Faé I, Braun A, Roscher A, Molzer B, Fischer G
Institute of Neurology, University of Vienna, Austria.
Biochem Biophys Res Commun. 1995 Nov 13;216(2):447-51. doi: 10.1006/bbrc.1995.2643.
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 DRB115 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 DRB115 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.
X连锁肾上腺脑白质营养不良（X-ALD）儿童脑型的中枢神经系统炎性脱髓鞘与多发性硬化症相似。鉴于HLA II类基因，特别是HLA-DRB1亚型DRB115与多发性硬化症的关联，我们研究了29名无关的X-ALD患者（包括17名儿童脑型患者）的HLA II类DR单倍型。我们的结果未显示DRB115与X-ALD有关联，但总体上揭示了HLA DRB1*16等位基因与X-ALD之间存在显著关联。这一发现表明，除了X染色体上的ALD基因外，与HLA II类区域连锁的常染色体基因也参与了X-ALD的发病机制。该基因应影响所有ALD变体共有的病理机制，如极长链脂肪酸的过氧化物酶体代谢缺陷。
