Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy
Abstract
A combined genotype of polymorphisms of methionine metabolism has been associated with CNS demyelination in methotrexate-treated patients. Within a sample of 86 patients with X-linked adrenoleukodystrophy, this genotype was overrepresented in a subgroup of 15 patients with adrenomyeloneuropathy (AMN) with CNS demyelination (adrenoleukomyeloneuropathy) in comparison to 49 AMN patients without CNS demyelination ("pure" AMN; p = 0.002), suggesting that methionine metabolism might contribute to the phenotypic variability in adrenoleukodystrophy.
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A polymorphism within the TCN2 gene was found to be significantly associated with cerebral demyelination in X-ALD.
“However, a polymorphism within the TCN2 gene was found to be significantly associated with cerebral demyelination in X-ALD.100,107,108”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [108]
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Moser, H. W., Mahmood, A., & Raymond, G. V. (2007) · Nature Clinical Practice Neurology · doi:10.1038/ncpneuro0421 · Cited by 663 · see citing works
X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects
Kemp, S., Berger, J., & Aubourg, P. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.03.012 · Cited by 283 · see citing works
Self-citationAdrenoleukodystrophy—Neuroendocrine pathogenesis and redefinition of natural history
Kemp, S., Huffnagel, I. C., Linthorst, G. E., Wanders, R. J., & Engelen, M. (2016) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2016.90 · Cited by 275 · see citing works
Self-citationBerger, J., Wiesinger, C., & Eichler, F. (2015) · The Application of Clinical Genetics · doi:10.2147/tacg.s49590 · Cited by 140 · see citing works
X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype
Maier, E. M., Mayerhofer, P. U., Asheuer, M., Köhler, W., Rothe, M., Muntau, A. C., Roscher, A. A., Holzinger, A., Aubourg, P., & Berger, J. (2008) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2008.09.092 · Cited by 34 · see citing works
Self-citationvan 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., et al. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2016.07.006 · Cited by 26 · see citing works
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- Authors
- Linnebank, M., Kemp, S., Wanders, R. J. A., Kleijer, W. J., van der Sterre, M. L. T., Gärtner, J., Fliessbach, K., Semmler, A., Sokolowski, P., Köhler, W., Schlegel, U., Schmidt, S., Klockgether, T., & Wüllner, U.
- Affiliations
- University Hospital Bonn (DE)
- From the Department of Neurology (M.L., A.S., U.S., S.S., T.K., U.W.), University Hospital Bonn, Bonn, Germany; Department of Pediatrics and Clinical Chemistry (S.K., R.J.A.W.), University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands; Department of Clinical Genetics (W.J.K., M.L.T.V.), Erasmus Medical Center, Rotterdam, The Netherlands; Department Pediatrics (J.G.), University Hospital Göttingen, Göttingen, Germany; Department of Epileptology (K.F.), University Hospital Bonn,...
- Venue
- Neurology
- Published
- 2006-02-14
- Volume
- 66
- Issue
- 3
- Pages
- 442-443
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2095609060
- Cited by
- 22
- References
- 0
- Citations by year
- 2025: 1 · 2024: 1 · 2020: 1 · 2017: 1 · 2016: 4 · 2015: 1 · 2012: 3
- FWCI
- 2.10
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- GRO (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- X-linked adrenoleukodystrophy, methionine metabolism, adrenomyeloneuropathy, central nervous system demyelination, phenotypic variability, genotype-phenotype correlation, methotrexate
- MeSH terms
- Adolescent, Adrenoleukodystrophy, Child, Genotype, Humans, Male, Methionine, Phenotype, Polymorphism, Genetic, Genetic Variation, Genetic Predisposition to Disease
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