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 beiing associated with the manifestation of symptoms.
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Slowly progressive AMN symptoms occur in approximately 65% of heterozygous women by age 60 due to inactivation of the non-mutated X chromosome and mosaic expression of X-linked genes in neural cells.
“Although ALD is an X-linked disease, slowly progressive AMN symptoms occur in ~65% of heterozygous women by the age of 60 years [31,47,59,60] due to the inactivation of the non-mutated X chromosome and the mosaic expression of X-linked genes in neural cells [60,61,62,63].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [62]
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- Authors
- Maier, E. M., Kammerer, S., Muntau, A. C., Wichers, M., Braun, A., & Roscher, A. A.
- Affiliations
- Ludwig-Maximilians-Universität München (DE)
- Sequenom (United States) (US)
- University of Bonn (DE)
- Corresponding author
- Roscher, Adelbert A.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2002-10-24
- Volume
- 52
- Issue
- 5
- Pages
- 683-688
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2027794132
- Cited by
- 72
- References
- 21
- Citations by year
- 2025: 2 · 2024: 3 · 2023: 2 · 2022: 1 · 2020: 3 · 2019: 2 · 2018: 2 · 2017: 1 · 2016: 1 · 2015: 5 · 2014: 2 · 2013: 7 · 2012: 7
- FWCI
- 1.53
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- adrenoleukodystrophy, X-inactivation skewing, female carriers, X-linked disorders, neurological symptoms, very long chain fatty acids, mutant allele, genotype-phenotype correlation
- MeSH terms
- Adolescent, Adrenoleukodystrophy, Adult, Child, Preschool, Fatty Acids, Female, Fibroblasts, Heterozygote, Humans, Middle Aged, Reference Values, Sex Chromosome Aberrations, Transcription, Genetic, X Chromosome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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