Journal of Inherited Metabolic Disease

, Volume 19, Issue 5, pp 667–674 | Cite as

ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy

  • S. Kemp
  • P. A. W. Mooyer
  • P. A. Bolhuis
  • B. M. van Geel
  • J. L. Mandel
  • P. G. Barth
  • P. Aubourg
  • R. J. A. Wanders
Article

Summary

The adrenoleukodystrophy gene encodes a peroxisomal integral membrane protein (ALDP) consisting of 745 amino acids with a molecular weight of 75 kDa. ALDP expression was studied in fibroblasts from 24 male ALD patients from 17 unrelated ALD kindreds. In four kindreds an identical 2-base-pair deletion was found. We report the absence of ALDP in 12 kindreds carrying nonsense mutations, frame shifts or amino acid substitutions in the carboxy terminus of ALDP, together accounting for 71% of the ALD kindreds. ALDP was present in five kindreds (29%) with amino acid substitutions in the amino terminal half of the protein; in two of these kindreds ALDP was present although at a reduced level. The absence of truncated proteins suggests that the carboxy terminus has a function in the stabilization of ALDP.

Keywords

Public Health Molecular Weight Internal Medicine Membrane Protein Metabolic Disease 

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Copyright information

© SSIEM and Kluwer Academic Publishers 1996

Authors and Affiliations

  • S. Kemp
    • 1
  • P. A. W. Mooyer
    • 2
  • P. A. Bolhuis
    • 1
  • B. M. van Geel
    • 1
  • J. L. Mandel
    • 3
  • P. G. Barth
    • 1
    • 2
  • P. Aubourg
    • 4
  • R. J. A. Wanders
    • 2
  1. 1.Department of NeurologyAcademic Medical CenterAmsterdamThe Netherlands
  2. 2.Department of PediatricsAcademic Medical CenterAmsterdam ZOThe Netherlands
  3. 3.Institute de Génétique et Biologie Moléculaire et Cellulaire, CNRS-INSERMStrasbourg
  4. 4.Unité 342 de L'INSERM, Hôpital Saint Vincent de PaulParisFrance

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