title: Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.
abstract: Adrenoleukodystrophy (ALD), a lethal demyelinating disease of the brain, is caused by mutations of a gene encoding an ATP-binding transporter, called ALDP, localized in the peroxisomal membrane. It is associated with a defective oxidation of very-long-chain fatty acids, leading to their accumulation in many tissues. This study reports that the retroviral-mediated transfer of the ALD cDNA restored very-long-chain fatty acid oxidation in ALD fibroblasts in vitro following abundant expression and appropriate targeting of the vector-encoded ALDP in peroxisomes. The same method may be used in hematopoietic cells as a further step of a gene therapy approach of ALD.
authors.affiliation: Institut National de la Santé et de la Recherche Médicale U342, Université René Descartes, Hôpital Saint-Vincent de Paul, Paris, France.
authors.forename: N
authors.initials: N
authors.lastname: Cartier
authors.forename: J
authors.initials: J
authors.lastname: Lopez
authors.forename: P
authors.initials: P
authors.lastname: Moullier
authors.forename: F
authors.initials: F
authors.lastname: Rocchiccioli
authors.forename: M O
authors.initials: MO
authors.lastname: Rolland
authors.forename: P
authors.initials: P
authors.lastname: Jorge
authors.forename: J
authors.initials: J
authors.lastname: Mosser
authors.forename: J L
authors.initials: JL
authors.lastname: Mandel
authors.forename: P F
authors.initials: PF
authors.lastname: Bougnères
authors.forename: O
authors.initials: O
authors.lastname: Danos
mesh_terms: D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000628:therapy; D018076:DNA, Complementary / Q000235:genetics; D005227:Fatty Acids / Q000378:metabolism; D005347:Fibroblasts; D005455:Fluorescent Antibody Technique; D015971:Gene Expression Regulation, Enzymologic; D018014:Gene Transfer Techniques; D005822:Genetic Vectors; D006801:Humans; D066298:In Vitro Techniques; D012333:RNA, Messenger / Q000235:genetics; D012190:Retroviridae / Q000235:genetics
chemical_list: D018076:DNA, Complementary; D005227:Fatty Acids; D012333:RNA, Messenger