title: Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation.
abstract: Skewing of X inactivation may contribute to the manifestation of symptoms in adrenoleukodystrophy carriers. We observed highly skewed X inactivation in 32% of 22 symptomatic and asymptomatic carriers but not in 7 related and 35 unrelated controls. Skewing of X inactivation correlated with clinical neurological scores but not with the extent of very long-chain fatty acid accumulation. Transcript analysis in cultured fibroblasts revealed that skewing could occur both in favor of the mutant and the wild-type allele. Adrenoleukodystrophy carriers are more susceptible to develop skewing of X inactivation in favor of the mutant allele being associated with the manifestation of symptoms.
authors.affiliation: Laboratory of Molecular Biology, Dr von Hauner Children's Hospital, University of Munich, Lindwurmstrasse 4, 80337 Munich, Germany.
authors.forename: Esther M
authors.initials: EM
authors.lastname: Maier
authors.forename: Stefan
authors.initials: S
authors.lastname: Kammerer
authors.forename: Ania C
authors.initials: AC
authors.lastname: Muntau
authors.forename: Maria
authors.initials: M
authors.lastname: Wichers
authors.forename: Andreas
authors.initials: A
authors.lastname: Braun
authors.forename: Adelbert A
authors.initials: AA
authors.lastname: Roscher
mesh_terms: D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D002675:Child, Preschool; D005227:Fatty Acids / Q000097:blood / Q000737:chemistry; D005260:Female; D005347:Fibroblasts / Q000502:physiology; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D012016:Reference Values; D012729:Sex Chromosome Aberrations; D014158:Transcription, Genetic; D014960:X Chromosome
chemical_list: D005227:Fatty Acids