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X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype

Maier, EM, Mayerhofer, PU, Asheuer, M, Kohler, W, Rothe, M, Muntau, AC, Roscher, AA, Holzinger, A, Aubourg, P and Berger, J (2008) X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype Biochem Biophys Res Commun, 377. pp. 176-180.

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Abstract

Strikingly variable clinical phenotypes can be found in X-linked adrenoleukodystrophy (X-ALD) even with the same ABCD1 mutation. ABCD2 is the closest homolog to ABCD1. Since ABCD2 overexpression complements the loss of ABCD1 in vivo and in vitro, we have investigated the possible role of the ABCD2 gene locus as determinant of X-ALD phenotypes. Sequence and segregation analysis of the ABCD2 gene, in a large X-ALD family with different phenotypes disclosed that the identical ABCD2 alleles were inherited in brothers affected by mild (noncerebral) versus severe (childhood cerebral) X-ALD phenotypes. Moreover, two independent association studies of ABCD2 polymorphisms and clinical phenotypes showed an even allele distribution in different X-ALD phenotypes and controls. Based on these findings ABCD2 can be excluded as a major modifier locus for clinical diversity in X-ALD. These findings are of particular importance for the attempt of pharmacological induction of ABCD2 as a possible therapeutic approach in X-ALD.

Item Type: Article
Authors :
NameEmailORCID
Maier, EMUNSPECIFIEDUNSPECIFIED
Mayerhofer, PUp.mayerhofer@surrey.ac.ukUNSPECIFIED
Asheuer, MUNSPECIFIEDUNSPECIFIED
Kohler, WUNSPECIFIEDUNSPECIFIED
Rothe, MUNSPECIFIEDUNSPECIFIED
Muntau, ACUNSPECIFIEDUNSPECIFIED
Roscher, AAUNSPECIFIEDUNSPECIFIED
Holzinger, AUNSPECIFIEDUNSPECIFIED
Aubourg, PUNSPECIFIEDUNSPECIFIED
Berger, JUNSPECIFIEDUNSPECIFIED
Date : 2008
Identification Number : https://doi.org/10.1016/j.bbrc.2008.09.092
Uncontrolled Keywords : ATP-Binding Cassette Transporters/*genetics Adolescent Adrenoleukodystrophy/*genetics/*pathology Child DNA Mutational Analysis Female Humans Male Mutation Pedigree Phenotype *Polymorphism, Single Nucleotide
Related URLs :
Depositing User : Symplectic Elements
Date Deposited : 17 May 2017 10:42
Last Modified : 17 May 2017 14:51
URI: http://epubs.surrey.ac.uk/id/eprint/828851

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