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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

Segregation Analysis Translational Start Codon Putative Promoter Region Childhood Form Frequent Polymorphism 
These 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.

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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