CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids
Open accessAbstract
X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder caused by the accumulation of very long-chain fatty acids (VLCFA) due to mutations in the ABCD1 gene. The phenotypic spectrum ranges from a fatal cerebral demyelinating disease in childhood (cerebral ALD) to a progressive myelopathy without cerebral involvement in adulthood (adrenomyeloneuropathy). Because ABCD1 mutations have no predictive value with respect to clinical outcome a role for modifier genes was postulated. We report that the CYP4F2 polymorphism rs2108622 increases the risk of developing cerebral ALD in Caucasian patients. The rs2108622 polymorphism (c.1297G>A) results in an amino acid substitution valine for methionine at position 433 (p.V433M). Using cellular models of VLCFA accumulation, we show that p.V433M decreases the conversion of VLCFA into very long-chain dicarboxylic acids by ω-oxidation, a potential escape route for the deficient peroxisomal β-oxidation of VLCFA in ALD. Although p.V433M does not affect the catalytic activity of CYP4F2 it reduces CYP4F2 protein levels markedly. These findings open perspectives for therapeutic interventions in a disease with currently limited treatment options.
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Attempts to identify a modifier variant among 16 candidate genes, including some involved in inflammatory processes, had no success.
“Although a large segregation analysis suggested the presence of a single “major” autosomal modifier locus [111], attempts to identify a modifier variant among 16 candidate genes, including some involved in inflammatory processes, had no success [15,112,113,114,115,116], as reviewed in [15].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [113]
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- Authors
- van Engen, C. E., Ofman, R., Dijkstra, I. M. E., van Goethem, T. J., Verheij, E., Varin, J., Vidaud, M., Wanders, R. J. A., Aubourg, P., Kemp, S., & Barbier, M.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- Inserm (FR)
- Université Paris-Sud (FR)
- Corresponding author
- Kemp, Stephan
- Venue
- Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
- Publisher
- Elsevier BV
- Published
- 2016-10
- Volume
- 1862
- Issue
- 10
- Pages
- 1861-1870
- ISSN
- 0925-4439 (ISSN-L)
- OpenAlex
- W2464491486
- Cited by
- 26
- References
- 57
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 8 · 2022: 2 · 2020: 4 · 2019: 2 · 2018: 1 · 2017: 3 · 2016: 1
- FWCI
- 2.28
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Funders
- Prinses Beatrix Spierfonds (WAR08-20)
- Netherlands Organization for Scientific Research (91786328)
- European Leukodystrophy Association Foundation (2008-001C4)
- Association Française contre les Myopathies (Ddt 2011-0242)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Keywords
- CYP4F2, X-linked adrenoleukodystrophy, very long chain fatty acids, ABCD1 mutations, cerebral adrenoleukodystrophy, adrenomyeloneuropathy, genetic modifiers, omega-oxidation, peroxisomal beta-oxidation, protein stability
- MeSH terms
- Cytochrome P450 Family 4, ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Cell Line, Fatty Acids, Humans, Male, Middle Aged, Mutation, Polymorphism, Genetic
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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