Impaired plasticity of macrophages in X-linked adrenoleukodystrophy
Open accessAbstract
X-linked adrenoleukodystrophy is caused by ATP-binding cassette transporter D1 (ABCD1) mutations and manifests by default as slowly progressive spinal cord axonopathy with associated demyelination (adrenomyloneuropathy). In 60% of male cases, however, X-linked adrenoleukodystrophy converts to devastating cerebral inflammation and demyelination (cerebral adrenoleukodystrophy) with infiltrating blood-derived monocytes and macrophages and cytotoxic T cells that can only be stopped by allogeneic haematopoietic stem cell transplantation or gene therapy at an early stage of the disease. Recently, we identified monocytes/macrophages but not T cells to be severely affected metabolically by ABCD1 deficiency. Here we found by whole transcriptome analysis that, although monocytes of patients with X-linked adrenoleukodystrophy have normal capacity for macrophage differentiation and phagocytosis, they are pro-inflammatory skewed also in patients with adrenomyloneuropathy in the absence of cerebral inflammation. Following lipopolysaccharide activation, the ingestion of myelin debris, normally triggering anti-inflammatory polarization, did not fully reverse the pro-inflammatory status of X-linked adrenoleukodystrophy macrophages. Immunohistochemistry on post-mortem cerebral adrenoleukodystrophy lesions reflected the activation pattern by prominent presence of enlarged lipid-laden macrophages strongly positive for the pro-inflammatory marker co-stimulatory molecule CD86. Comparative analyses of lesions with matching macrophage density in cases of cerebral adrenoleukodystrophy and acute multiple sclerosis showed a similar extent of pro-inflammatory activation but a striking reduction of anti-inflammatory mannose receptor (CD206) and haemoglobin-haptoglobin receptor (CD163) expression on cerebral adrenoleukodystrophy macrophages. Accordingly, ABCD1-deficiency leads to an impaired plasticity of macrophages that is reflected in incomplete establishment of anti-inflammatory responses, thus possibly contributing to the devastating rapidly progressive demyelination in cerebral adrenoleukodystrophy that only in rare cases arrests spontaneously. These findings emphasize monocytes/macrophages as crucial therapeutic targets for preventing or stopping myelin destruction in patients with X-linked adrenoleukodystrophy.
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Whole-transcriptome analysis showed AMN monocytes' normal macrophage differentiation and phagocytosis but a pro-inflammatory profile.
“Those authors’ whole-transcriptome analysis showed AMN monocytes’ normal macrophage differentiation and phagocytosis but a pro-inflammatory profile.”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [355]
The Results section reports that whole-transcriptome analysis found a pro-inflammatory expression pattern in AMN monocytes. It also reports unimpaired macrophage differentiation and no significant change in monocyte phagocytic ability, but those findings came from separate functional assays, not the whole-transcriptome analysis. Page numbers are unavailable in our copy. (LLM, conf=0.85)
Experimental — accuracy not yet measuredA comparative analysis with acute multiple sclerosis showed a similar extent of pro-inflammatory activation but strikingly less anti-inflammatory CD206 and CD163 receptors expressed on cALD macrophages.
“A comparative analysis with acute multiple sclerosis showed a similar extent of pro-inflammatory activation but strikingly less anti-inflammatory CD206 and CD163 receptors expressed on cALD macrophages.”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [355]
In profoundly inflammatory brain lesions, enlarged lipid-laden late macrophages indicative of prior myelin phagocytosis are prominent and strongly positive for the pro-inflammatory marker CD86.
“In the profoundly inflammatory brain lesions, enlarged lipid-laden late macrophages indicative of prior myelin phagocytosis are prominent and are strongly positive for the pro-inflammatory marker CD86 [355].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [355]
Compared to multiple sclerosis, only a few macrophages in cALD brain lesions express anti-inflammatory markers, whereas macrophages with pro-inflammatory markers are present in both diseases.
“Compared to multiple sclerosis, only a few macrophages in cALD brain lesions express anti-inflammatory markers, whereas macrophages with pro-inflammatory markers are present in both diseases [355].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [355]
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In ALD, I feel the need for speed
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Self-citationPretreatment blood NfL indicates response to cellular therapies in cerebral adrenoleukodystrophy
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Self-citation
- Authors
- Weinhofer, I., Zierfuss, B., Hametner, S., Wagner, M., Popitsch, N., Machacek, C., Bartolini, B., Zlabinger, G., Ohradanova-Repic, A., Stockinger, H., Köhler, W., Höftberger, R., Regelsberger, G., Forss-Petter, S., Lassmann, H., & Berger, J.
- Affiliations
- Medical University of Vienna (AT)
- Universitätsmedizin Göttingen (DE)
- Karolinska Institutet (SE)
- Centre for Human Genetics (GB)
- Institute for Hygiene and Applied Immunology, Center for Pathophysiology, Infectiology and Immunology, Medical University of Vienna, Vienna, Austria
- University Hospital Leipzig (DE)
- Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Vienna, Austria
- Corresponding author
- Berger, Johannes
- ORCID
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2018-05-30
- Volume
- 141
- Issue
- 8
- Pages
- 2329-2342
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- PMC
- PMC6061697
- OpenAlex
- W2806388843
- Cited by
- 72
- References
- 38
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 11 · 2023: 11 · 2022: 10 · 2021: 13 · 2020: 8 · 2019: 11 · 2018: 2
- FWCI
- 6.47
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Brain (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Funders
- Austrian Science Fund (P26112-B19, T562-B13)
- European Leukodystrophy Association
- ELA
- Topics
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- X-linked adrenoleukodystrophy, macrophage plasticity, monocytes, cerebral adrenoleukodystrophy, demyelination, macrophage polarization, CD86, CD206, CD163, myelin phagocytosis, lipopolysaccharide, multiple sclerosis, anti-inflammatory macrophages
- MeSH terms
- Cell Plasticity, Exome Sequencing, ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Adult, Demyelinating Diseases, Humans, Macrophages, Male, Middle Aged, Monocytes, Myelin Sheath, ATP-Binding Cassette Transporters, White People
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