title: Distribution and cellular localization of adrenoleukodystrophy protein in human tissues: implications for X-linked adrenoleukodystrophy.
abstract: Defects of adrenoleukodystrophy protein (ALDP) lead to X-linked adrenoleukodystrophy (X-ALD), a disorder mainly affecting the nervous system white matter and the adrenal cortex. In the present study, we examine the expression of ALDP in various human tissues and cell lines by multiple-tissue RNA expression array analysis, Western blot analysis, and immunohistochemistry. ALDP-encoding mRNA is most abundant in tissues with high energy requirements such as heart, muscle, liver, and the renal and endocrine systems. ALDP selectively occurs in specific cell types of brain (hypothalamus and basal nucleus of Meynert), kidney (distal tubules), skin (eccrine gland, hair follicles, and fibroblasts), colon (ganglion cells and epithelium), adrenal gland (zona reticularis and fasciculata), and testis (Sertoli and Leydig cells). In pituitary gland, ALDP is confined to adrenocorticotropin-producing cells and is significantly reduced in individuals receiving long term cortisol treatment. This might indicate a functional link between ALDP and proopiomelanocortin-derived peptide hormones.
authors.affiliation: Institute of Neurology, Medical University of Vienna, AKH 4J, Währinger Gürtel 18-20, POB 48, A-1097 Vienna, Austria. romana.hoeftberger@meduniwien.ac.at
authors.forename: Romana
authors.initials: R
authors.lastname: Höftberger
authors.forename: Markus
authors.initials: M
authors.lastname: Kunze
authors.forename: Isabelle
authors.initials: I
authors.lastname: Weinhofer
authors.forename: Fahmy
authors.initials: F
authors.lastname: Aboul-Enein
authors.forename: Till
authors.initials: T
authors.lastname: Voigtländer
authors.forename: Iris
authors.initials: I
authors.lastname: Oezen
authors.forename: Gabriele
authors.initials: G
authors.lastname: Amann
authors.forename: Hanno
authors.initials: H
authors.lastname: Bernheimer
authors.forename: Herbert
authors.initials: H
authors.lastname: Budka
authors.forename: Johannes
authors.initials: J
authors.lastname: Berger
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics / Q000378:metabolism*; D000293:Adolescent; D000302:Adrenal Cortex / Q000166:cytology / Q000378:metabolism; D000326:Adrenoleukodystrophy / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001921:Brain / Q000166:cytology / Q000378:metabolism* / Q000503:physiopathology; D002648:Child; D003106:Colon / Q000166:cytology / Q000378:metabolism; D004734:Energy Metabolism / Q000502:physiology; D005260:Female; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D007223:Infant; D007668:Kidney / Q000166:cytology / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D010902:Pituitary Gland / Q000166:cytology / Q000378:metabolism; D011333:Pro-Opiomelanocortin / Q000378:metabolism; D012333:RNA, Messenger / Q000032:analysis / Q000378:metabolism; D012867:Skin / Q000166:cytology / Q000378:metabolism*; D013737:Testis / Q000166:cytology / Q000378:metabolism; D014781:Viscera / Q000166:cytology / Q000378:metabolism*
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D012333:RNA, Messenger; D011333:Pro-Opiomelanocortin