Evidence against the Adrenoleukodystrophy-related Gene acting as a Modifier of X-adrenoleukodystrophy

  • Andreas Holzinger
  • Peter U. Mayerhofer
  • Esther M. Maier
  • Adelbert A. Roscher
  • Johannes Berger
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 544)

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.

Keywords

Codon Adrenoleukodystrophy 

References

  1. Berger, J., Molzer, B., Faé, I. and Bernheimer, H., 1994, X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. Biochem. Biophys. Res. Comm. 205: 1638–1643.PubMedCrossRefGoogle Scholar
  2. Holzinger, A., Kammerer, S., Berger, J., and Roscher, A.A., 1997, cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC-transporter. Biochem. Biophys. Res. Comm. 239: 262–264.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2003

Authors and Affiliations

  • Andreas Holzinger
    • 1
  • Peter U. Mayerhofer
    • 1
  • Esther M. Maier
    • 1
  • Adelbert A. Roscher
    • 1
  • Johannes Berger
    • 2
  1. 1.Dr. Von Hauner Children’s HospitalLudwig-Maximilians-University MunichMunichGermany
  2. 2.Brain Research InstituteUniversity of ViennaAustria

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