Evidence against the adrenoleukodystrophy-related gene acting as a modifier of X-adrenoleukodystrophy.

Abstract

Mutations in the ALD gene encoding a peroxisomal ABC-transporter are the cause of X-linked adrenoleukodystrophy (X-ALD). The clinical course of the disease is extremely heterogeneous, ranging from severe phenotypes leading to death in early childhood to asymptomatic forms. Mutation analysis in X-ALD patients showed no predictable genotype-phenotype correlation. Out of 3 peroxisomal ABC-transporters the human adrenoleukodystrophy related protein (hALDRP, Holzinger et al. 1997) displays the highest homology to the adrenoleukodystrophy protein (ALDP). ALDRP can restore P-oxidation in X-ALD fibroblasts in in vitro expression experiments and directly interacts with ALDP.KeywordsSegregation AnalysisTranslational Start CodonPutative Promoter RegionChildhood FormFrequent PolymorphismThese keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.