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© 1994 Oxford University Press

OTHER

The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein

Jean Mosser, Yves Lutz, Marie Elisabeth Stoeckel1, Claude Olivier Sarde, Christine Kretz, Anne Marie Douar2, Jacqueline Lopez2, Patrick Aubourg2 and Jean Louis Mandel*

Laboratoire de Génétique Moléculaire des Eucaryotes, Unité 184 de I'INSERM, Faculté de Médecine et CHRU 11 rue Humann, 67085 Strasbourg Cedex 1Laboratoire de Physiologie et Chimie Biologique, Neurophysiologie et Neurobiologie des Systèmes Endocrines URA 1446 du CNRS, Université Strasbourg 1, 21 rue René Descartes 67084 Strasbourg Cedex 2Unité 342 de I'INSERM, Hôpital Saint Vincent de Paul, Faculté Cochin, Université René Descartes 82 Avenue Denfert Rochereau, 75014 Paris, France

*To whom correspondence should be addressed

Received October 4, 1993; Revised December 14, 1993; Accepted December 14, 1993

Adrenoleukodystrophy is a severe genetic demye-llnating disease associated with an impairment of ß-oxidation of very long chain fatty acids (VLCFA) In peroxisomes. Earlier studies had suggested that a deficiency in VLCFA CoA synthetase was the primary defect. A candidate adrenoleukodystrophy gene has recently been cloned and was found unexpectedly to encode a putative ATP-binding cassette transporter. We have raised monoclonal antibodies against this protein, that detect a 75kDa band. This protein was absent in several patients with adrenoleukodystrophy. Immunofluorescence and Immunoelectron microscopy showed that the adrenoleukodystrophy protein (ALDP) is associated with the peroxisomal membrane. Distinct Immunofluorescence patterns were observed in cell lines from patients with Zellweger syndrome (a peroxisomal biogenesis disorder) belonging to different complementation groups.


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