A zebrafish model of X-linked adrenoleukodystrophy recapitulates key disease features and demonstrates a developmental requirement for abcd1 in oligodendrocyte patterning and myelination
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X-linked adrenoleukodystrophy (ALD) is a devastating inherited neurodegenerative disease caused by defects in the ABCD1 gene and affecting peripheral and central nervous system myelin. ABCD1 encodes a peroxisomal transmembrane protein required for very long chain fatty acid (VLCFA) metabolism. We show that zebrafish (Danio rerio) Abcd1 is highly conserved at the amino acid level with human ABCD1, and during development is expressed in homologous regions including the central nervous system and adrenal glands. We used TALENs to generate five zebrafish abcd1 mutant allele lines introducing premature stop codons in exon 1, as well as obtained an abcd1 allele from the Zebrafish Mutation Project carrying a point mutation in a splice donor site. Similar to patients with ALD, zebrafish abcd1 mutants have elevated VLCFA levels. Interestingly, we found that CNS development of the abcd1 mutants is disrupted, with hypomyelination in the spinal cord, abnormal patterning and decreased numbers of oligodendrocytes, and increased cell death. By day of life five abcd1 mutants demonstrate impaired motor function, and overall survival to adulthood of heterozygous and homozygous mutants is decreased. Expression of human ABCD1 in oligodendrocytes rescued apoptosis in the abcd1 mutant. In summary, we have established a zebrafish model of ALD that recapitulates key features of human disease pathology and which reveals novel features of underlying disease pathogenesis.
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The abcd1 mutation in zebrafish demonstrated a major and likely primary role of OLs, with VLCFA accumulation, altered myelination, increased apoptosis, abnormal OL patterning, cell death, early motor impairment, and shortened survival.
“The abcd1 mutation in zebrafish demonstrated a major and likely primary role of OLs, with VLCFA accumulation, altered myelination, increased apoptosis, and abnormal OL patterning, cell death, early motor impairment, and shortened survival [191].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [191]
Human ABCD1 expression in OLs reversed the zebrafish disease.
“Human ABCD1 expression in OLs reversed the zebrafish disease [191].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [191]
VLCFAs increase membrane stiffness, thereby decreasing fluidity, and are likely critical for proper myelin function, myelination, myelin maintenance, and neuron polarity during CNS development.
“VLCFAs increase membrane stiffness, thereby decreasing fluidity, and they are likely critical for proper myelin function [191,213,214,217], myelination [218], myelin maintenance [207,213,215], and neuron polarity during CNS development [219].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [191]
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- Authors
- Strachan, L. R., Stevenson, T. J., Freshner, B., Keefe, M. D., Miranda Bowles, D., & Bonkowsky, J. L.
- Affiliations
- University of Utah (US)
- Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA
- Corresponding author
- Bonkowsky, Joshua L.
- ORCID
- Bonkowsky, Joshua L.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2017-07-06
- Volume
- 26
- Issue
- 18
- Pages
- 3600-3614
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC5886093
- OpenAlex
- W2724583131
- Cited by
- 46
- References
- 58
- Citations by year
- 2026: 1 · 2025: 5 · 2024: 10 · 2023: 4 · 2022: 4 · 2021: 6 · 2020: 5 · 2019: 8 · 2018: 3
- FWCI
- 3.64
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Human Molecular Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- NIH (#1G20OD018369-01)
- National Institutes of Health (P2 MH100008)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Zebrafish Biomedical Research Applications
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- X-linked adrenoleukodystrophy, ABCD1, zebrafish model, oligodendrocyte differentiation, myelination, hypomyelination, very long chain fatty acids, peroxisomal disorders, TALEN mutagenesis, motor function, apoptosis
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Alleles, Animals, Cells, Cultured, Disease Models, Animal, Exons, Fatty Acids, Humans, Mutation, Myelin Sheath, Oligodendroglia, Zebrafish, ATP-Binding Cassette Transporters, Genetic Diseases, X-Linked
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