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Cited by 14Metabolism and Genetic DisordersCholesterol and Lipid MetabolismLysosomal Storage Disorders Research

ABCD1 Transporter Deficiency Results in Altered Cholesterol Homeostasis

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Buda, Agnieszka, Forss-Petter, Sonja, Hua, Rong, Jaspers, Yorrick, Lassnig, Mark, Waidhofer-Söllner, Petra, Kemp, Stephan, Kim, Peter +2 more·2023·Biomolecules
DOI 10.3390/biom13091333PMC PMC10526550
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Abstract

X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused by mutations in the peroxisomal transporter ABCD1, resulting in the accumulation of very long-chain fatty acids (VLCFA). Strongly affected cell types, such as oligodendrocytes, adrenocortical cells and macrophages, exhibit high cholesterol turnover. Here, we investigated how ABCD1 deficiency affects cholesterol metabolism in human X-ALD patient-derived fibroblasts and CNS tissues of Abcd1-deficient mice. Lipidome analyses revealed increased levels of cholesterol esters (CE), containing both saturated VLCFA and mono/polyunsaturated (V)LCFA. The elevated CE(26:0) and CE(26:1) levels remained unchanged in LXR agonist-treated Abcd1 KO mice despite reduced total C26:0. Under high-cholesterol loading, gene expression of SOAT1, converting cholesterol to CE and lipid droplet formation were increased in human X-ALD fibroblasts versus healthy control fibroblasts. However, the expression of NCEH1, catalysing CE hydrolysis and the cholesterol transporter ABCA1 and cholesterol efflux were also upregulated. Elevated Soat1 and Abca1 expression and lipid droplet content were confirmed in the spinal cord of X-ALD mice, where expression of the CNS cholesterol transporter Apoe was also elevated. The extent of peroxisome-lipid droplet co-localisation appeared low and was not impaired by ABCD1-deficiency in cholesterol-loaded primary fibroblasts. Finally, addressing steroidogenesis, progesterone-induced cortisol release was amplified in X-ALD fibroblasts. These results link VLCFA to cholesterol homeostasis and justify further consideration of therapeutic approaches towards reducing VLCFA and cholesterol levels in X-ALD.

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Authors
Buda, A., Forss-Petter, S., Hua, R., Jaspers, Y., Lassnig, M., Waidhofer-Söllner, P., Kemp, S., Kim, P., Weinhofer, I., & Berger, J.
Affiliations
  • Medical University of Vienna (AT)
  • Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, 1090 Vienna, Austria
  • University of Toronto (CA)
  • Amsterdam Neuroscience (NL)
  • Division of Immune Receptors and T Cell Activation, Institute of Immunology, Center for Pathophysiology, Infectiology and Immunology, Medical University of Vienna, 1090 Vienna, Austria
Corresponding author
Berger, Johannes
ORCID
Venue
Biomolecules
Publisher
MDPI AG
Published
2023-08-31
Volume
13
Issue
9
Pages
1333
ISSN
2218-273X (ISSN-L)
DOI
10.3390/biom13091333
PMC
PMC10526550
OpenAlex
W4386324730
Cited by
14
References
13
Citations by year
2026: 1 · 2025: 8 · 2024: 4 · 2023: 1
FWCI
2.74
Type
journal article
Language
en
Open access
Licence
Locations
  • Biomolecules (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
  • Lirias (KU Leuven) (submittedVersion, cc-by)
  • Pure Amsterdam UMC (submittedVersion, cc-by)
Funders
Austrian Science Fund FWF (DOC 33-B27)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
  • Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
Keywords
X-linked adrenoleukodystrophy, very long chain fatty acids, cholesterol homeostasis, cholesterol esters, SOAT1, ABCA1, apolipoprotein E, lipid droplets, peroxisomes, steroidogenesis, cortisol, LXR agonists, fibroblasts, spinal cord
MeSH terms
ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Animals, Cholesterol, Fatty Acids, Homeostasis, Humans, ATP-Binding Cassette Transporters, Mice

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