X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype

Biochemical and Biophysical Research Communications

Volumn 377, Issue 1, 2008, Pages 176-180

  Maier, Esther M ^a   Mayerhofer, Peter U ^a   Asheuer, Muriel ^b   Köhler, Wolfgang ^c   Rothe, Martina ^d   Muntau, Ania C ^a   Roscher, Adelbert A ^a   Holzinger, Andreas ^a   Aubourg, Patrick ^b   Berger, Johannes ^d  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

^c Department of Neurology ^*  (Germany)

^d MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

ABC transporters; ABCD2; ALDR; Association study; Genotype phenotype; Inflammation; Linkage analysis; Modifier gene; Modifier locus; Neurodegeneration; Peroxisomal disorders; Peroxisomes; Segregation analysis; X ALD phenotypes; X linked adrenoleukodystrophy

Indexed keywords

ABCD2 GENE; ADOLESCENT; ADRENOLEUKODYSTROPHY; ARTICLE; CLINICAL ARTICLE; DISEASE SEVERITY; GENE; GENOTYPE; HUMAN; MALE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADRENOLEUKODYSTROPHY; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 54449084255     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2008.09.092     Document Type: Article

References (32)

1. Moser H.W., Smith K.D., Watkins P.A., Powers J., and Moser A.B. X-linked adrenoleukodystrophy. In: Scriver C.R., and Beaudet A.L. (Eds). The Metabolic and Molecular Bases of Inherited Disease. Eighth ed. (2001), McGraw-Hill, New York 3257-3301
2. Berger J., and Gärtner J. X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects. Biochim. Biophys. Acta 1763 (2006) 1721-1732
3. Korenke G.C., Fuchs S., Krasemann E., Doerr H.G., Wilichowski E., Hunneman D.H., and Hanefeld F. Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype. Ann. Neurol. 40 (1996) 254-257
4. Smith K.D., Kemp S., Braiterman L.T., Lu J.F., Wei H.M., Geraghty M., Stetten G., Bergin J.S., Pevsner J., and Watkins P.A. X-linked adrenoleukodystrophy: genes, mutations, and phenotypes. Neurochem. Res. 24 (1999) 521-535
5. Lombard-Platet G., Savary S., Sarde C.O., Mandel J.L., and Chimini G. A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern. Proc. Natl. Acad. Sci. USA 93 (1996) 1265-1269
6. Holzinger A., Kammerer S., Berger J., and Roscher A.A. cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter. Biochem. Biophys. Res. Commun.s 239 (1997) 261-264
7. Holzinger A., Mayerhofer P., Berger J., Lichtner P., Kammerer S., and Roscher A.A. Full length cDNA cloning, promoter sequence, and genomic organization of the human adrenoleukodystrophy related (ALDR) gene functionally redundant to the gene responsible for X-linked adrenoleukodystrophy. Biochem. Biophys. Res. Commun. 258 (1999) 436-442
8. Broccardo C., Troffer-Charlier N., Savary S., Mandel J.L., and Chimini G. Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP). Eur. J. Hum. Genet. 6 (1998) 638-641
9. Liu L.X., Janvier K., Berteaux-Lecellier V., Cartier N., Benarous R., and Aubourg P. Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. J. Biol. Chem. 274 (1999) 32738-32743
10. Troffer-Charlier N., Doerflinger N., Metzger E., Fouquet F., Mandel J.L., and Aubourg P. Mirror expression of adrenoleukodystrophy and adrenoleukodystrophy related genes in mouse tissues and human cell lines. Eur. J. Cell Biol. 75 (1998) 254-264
11. Berger J., Albet S., Bentejac M., Netik A., Holzinger A., Roscher A.A., Bugaut M., and Forss-Petter S. The four murine peroxisomal ABC-transporter genes differ in constitutive, inducible and developmental expression. Eur. J. Biochem. 265 (1999) 719-727
12. Höftberger R., Kunze M., Weinhofer I., Aboul-Enein F., Voigtländer T., Oezen I., Amann G., Bernheimer H., Budka H., and Berger J. Distribution and cellular localization of adrenoleukodystrophy protein in human tissues: Implications for X-linked adrenoleukodystrophy. Neurobiol. Dis. 28 (2007) 165-174
13. Netik A., Forss-Petter S., Holzinger A., Molzer B., Unterrainer G., and Berger J. Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy. Hum. Mol. Genet. 8 (1999) 907-913
14. Pujol A., Ferrer I., Camps C., Metzger E., Hindelang C., Callizot N., Ruiz M., Pàmpols T., Giròs M., and L Mandel J. Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy. Hum. Mol. Genet. 13 (2004) 2997-3006
15. Kemp S., Wei H.M., Lu J.F., Braiterman L.T., McGuinness M.C., Moser A.B., Watkins P.A., and Smith K.D. Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy. Nat. Med. 4 (1998) 1261-1268
16. Berger J., Molzer B., Fae I., and Bernheimer H. 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. Commun. 205 (1994) 1638-1643
17. Molzer B., Bernheimer H., Budka H., Pilz P., and Toifl K. Accumulation of very long chain fatty acids is common to 3 variants of adrenoleukodystrophy (ALD). "Classical" ALD, atypical ALD (female patient) and adrenomyeloneuropathy. J. Neurol. Sci. 51 (1981) 301-310
18. Molzer B., Bernheimer H., Heller R., Toifl K., and Vetterlein M. Detection of adrenoleukodystrophy by increased C26:0 fatty acid levels in leukocytes. Clin. Chim. Acta 125 (1982) 299-305
19. Pujol A., Troffer-Charlier N., Metzger E., Chimini G., and Mandel J.L. Characterization of the adrenoleukodystrophy-related (ALDR, ABCD2) gene promoter: inductibility by retinoic acid and forskolin. Genomics 70 (2000) 131-139
20. Weinhofer I., Forss-Petter S., Zigman M., and Berger J. Cholesterol regulates ABCD2 expression: implications for the therapy of X-linked adrenoleukodystrophy. Hum. Mol. Genet. 11 (2002) 2701-2708
21. Weinhofer I., Kunze M., Rampler H., Bookout A.L., Forss-Petter S., and Berger J. LXRalpha interferes with SREBP1c-mediated Abcd2 expression: novel cross-talk in gene regulation. J. Biol. Chem. 280 (2005) 41243-41251
22. Fourcade S., Savary S., Gondcaille C., Berger J., Netik A., Cadepond F., Etr M.E., Molzer B., and Bugaut M. Thyroid hormone induction of the drenoleukodystrophy-related gene (ABCD2). Mol. Pharmacol. 63 (2003) 1296-1303
23. Kemp S., Valianpour F., Denis S., Ofman R., Sanders R.J., Mooyer P., Barth P.G., and Wanders R.J. Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy. Mol. Genet. Metab. 84 (2005) 144-151
24. Jia Z., Pei Z., Li Y., Wei L., Smith K.D., and Watkins P.A. X-linked adrenoleukodystrophy: role of very long-chain acyl-CoA synthetases. Mol. Genet. Metab. 83 (2004) 117-127
25. Asheuer M., Bieche I., Laurendeau I., Moser A., Hainque B., Vidaud M., and Aubourg P. Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. Hum. Mol. Genet. 14 (2005) 1293-1303
26. Ito M., Blumberg B.M., Mock D.J., Goodman A.D., Moser A.B., Moser H.W., Smith K.D., and Powers J.M. Potential environmental and host participants in the early white matter lesion of adreno-leukodystrophy: morphologic evidence for CD8 cytotoxic T cells, cytolysis of oligodendrocytes, and CD1-mediated lipid antigen presentation. J. Neuropathol. Exp. Neurol. 60 (2001) 1004-1019
27. Berger J., Bernheimer H., Fáe I., Braun A., Roscher A.A., Molzer B., and Fischer G. Association of X-linced adrenoleukodystrophy with HLA DRB1 alleles. Biochem. Biophys. Res. Commun. 216 (1995) 447-451
28. McGuinness M.C., Powers J.M., Bias W.B., Schmeckpeper B.J., Segal A.H., Gowda V.C., Wesselingh S.L., Berger J., Griffin D.E., and Smith K.D. Human leukocyte antigens and cytokine expression in cerebral inflammmatory demyelinative lesions of X-linked adrenoleukodystrophy and multiple sclerosis. J. Neuroimmunol. 75 (1997) 174-182
29. McGuinness M.C., Griffin D.E., Raymond G.V., Washington C.A., Moser H.W., and Smith K.D. Tumor necrosis factor-alpha and X-linked adrenoleukodystrophy. J. Neuroimmunol. 61 (1995) 161-169
30. Schmidt S., Marrosu G.M., Kolsch H., Haase C.G., Ferenczik S., Sokolowski P., Kohler W., Schmidt M., Papassotiropoulos A., Heun R., Grosse-Wilde H., and Klockgether T. Genetic variations and humoral immune responses to myelin oligodendroglia glycoprotein in adult phenotypes of X-linked adrenoleukodystrophy. J. Neuroimmunol. 135 (2003) 148-153
31. Linnebank M., Semmler A., Kleijer W.J., van der Sterre M.L., Gärtner J., Fliessbach K., Sokolowski P., Köhler W., Schlegel U., Klockgether T., Wanders R.J., Schmidt S., Wüllner U., and Kemp S. The cystathionine β-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy. Hum. Mutat. 27 (2006) 1063-1064
32. Linnebank M., Kemp S., Wanders R.J., Kleijer W.J., van der Sterre M.L., Gärtner J., Fliessbach K., Semmler A., Sokolowski P., Köhler W., Schlegel U., Schmidt S., Klockgether T., and Wüllner U. Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy. Neurology 66 (2006) 442-443