Peroxisomal multifunctional protein-2 deficiency causes neuroinflammation and degeneration of Purkinje cells independent of very long chain fatty acid accumulation
Open accessAbstract
Although peroxisome biogenesis and β-oxidation disorders are well known for their neurodevelopmental defects, patients with these disorders are increasingly diagnosed with neurodegenerative pathologies. In order to investigate the cellular mechanisms of neurodegeneration in these patients, we developed a mouse model lacking multifunctional protein 2 (MFP2, also called D-bifunctional protein), a central enzyme of peroxisomal β-oxidation, in all neural cells (Nestin-Mfp2(-/-)) or in oligodendrocytes (Cnp-Mfp2(-/-)) and compared these models with an already established general Mfp2 knockout. Nestin-Mfp2 but not Cnp-Mfp2 knockout mice develop motor disabilities and ataxia, similar to the general mutant. Deterioration of motor performance correlates with the demise of Purkinje cell axons in the cerebellum, which precedes loss of Purkinje cells and cerebellar atrophy. This closely mimics spinocerebellar ataxias of patients affected with mild peroxisome β-oxidation disorders. However, general knockouts have a much shorter life span than Nestin-Mfp2 knockouts which is paralleled by a disparity in activation of the innate immune system. Whereas in general mutants a strong and chronic proinflammatory reaction proceeds throughout the brain, elimination of MFP2 from neural cells results in minor neuroinflammation. Neither the extent of the inflammatory reaction nor the cerebellar degeneration could be correlated with levels of very long chain fatty acids, substrates of peroxisomal β-oxidation. In conclusion, MFP2 has multiple tasks in the adult brain, including the maintenance of Purkinje cells and the prevention of neuroinflammation but this is not mediated by its activity in oligodendrocytes nor by its role in very long chain fatty acid degradation.
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Hsd17b4-ablated mice displayed severe coordination problems and massive neuroinflammation, which was less severe but still present in mice lacking hsd17b4 specifically in neural cells (Nestin-Hsd17b4 mice).
“These mice displayed severe coordination problems and massive neuroinflammation, which was less severe but still present in mice lacking hsd17b4 specifically in neural cells (Nestin-Hsd17b4 mice) [272].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [272]
Onset in Mfp2-/- mice occurs earlier than in Acbd5-/- mice, within the first weeks after birth, and with a profoundly more severe symptomatology.
“However, the onset in Mfp2–/– mice occurs earlier—within the first weeks after birth—and with a profoundly more severe symptomatology (Verheijden et al., 2013).”
From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Verheijden et al., 2013
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Asadollahi, E., Trevisiol, A., Saab, A. S., Looser, Z. J., Dibaj, P., Kusch, K., Ruhwedel, T., Möbius, W., Jahn, O., Baes, M. I., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.02.24.481621 · Cited by 18 · see citing works
Self-citationSwinkels, D., Das, Y., Kocherlakota, S., Vinckier, S., Wever, E. J. M., van Kampen, A. H. C., Vaz, F. M., & Baes, M. I. (2022) · Cells · doi:10.3390/cells11010161 · Cited by 17 · see citing works
Self-citationBeckers, L., Stroobants, S., D’Hooge, R., & Baes, M. I. (2018) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2018.00136 · Cited by 17 · see citing works
Self-citationMunter, S. D., Verheijden, S., Vanderstuyft, E., Malheiro, A. R., Brites, P., Gall, D., Schiffmann, S. N., & Baes, M. I. (2016) · Neurobiology of Disease · doi:10.1016/j.nbd.2016.06.012 · Cited by 14 · see citing works
Self-citationEbert, B., Kisiela, M., & Maser, E. (2016) · Drug Metabolism Reviews · doi:10.3109/03602532.2016.1167902 · Cited by 14 · see citing works
Developmental Roles of D-bifunctional Protein-A Zebrafish Model of Peroxisome Dysfunction
Kim, Y., Bhandari, S., Lee, J. N., Yoo, K., Kim, S.-J., Oh, G., Kim, H., Cho, M., Kwak, J.-Y., So, H., et al. (2014) · Molecules and Cells · doi:10.14348/molcells.2014.2300 · Cited by 14 · see citing works
Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy
Bougnères, P., & Le Stunff, C. (2025) · Genes · doi:10.3390/genes16050590 · Cited by 11 · see citing works
Dissecting Peroxisome-Mediated Signaling Pathways: A New and Exciting Research Field
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Munter, S. D., Bamps, D., Malheiro, A. R., Baboota, R. K., Brites, P., & Baes, M. I. (2018) · Brain Pathology · doi:10.1111/bpa.12586 · Cited by 10 · see citing works
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Dawes, M. L., Haberlander, J. P., Islinger, M., & Schrader, M. (2025) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2025.1602343 · Cited by 7 · see citing works
Yamamoto, A., Fukumura, S., Habata, Y., Miyamoto, S., Nakashima, M., Takashima, S., Kawasaki, Y., Shimozawa, N., & Saitsu, H. (2021) · Child Neurology Open · doi:10.1177/2329048x211048613 · Cited by 7 · see citing works
Mouse Models to Study Peroxisomal Functions and Disorders: Overview, Caveats, and Recommendations
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Munter, S. D., & Baes, M. I. (2020) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-60204-8_9 · Cited by 4 · see citing works
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Single Peroxisomal Enzyme and Transporter Deficiencies in Human Diseases and Mouse Models
Kunze, M., & Berger, J. (2014) · Springer eBooks · doi:10.1007/978-3-7091-1788-0_8 · Cited by 3 · see citing works
Peroxisomes as emerging clinical targets in neuroinflammatory diseases
Roczkowsky, A., Rachubinski, R. A., Hobman, T. C., & Power, C. (2025) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2025.1642590 · Cited by 2 · see citing works
SCA38 is rare in mainland China
Liu, Z., Zeng, S., Zeng, J., Zhou, Y., Zeng, X., Jiang, H. F., Shen, L. H., Tang, B., & Wang, J. (2015) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2015.09.350 · Cited by 2 · see citing works
Eberhart, T., Charles, K. N., Salumbides-Torres, B., Price, N., Fliesler, S. J., Faust, P. L., & Kovacs, W. J. (2026) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2026.1636268 · Cited by 1 · see citing works
Mass Spectrometry for Multimodal Imaging of Lipids in Brain Tissue
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Myelin lipids are energy reserves in the nervous system
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Unexpected failure of rod bipolar cell targeting using L7Cre-2 mice
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Savran, M., Hatip, A. Y., Aşcı, S., OĞUZOĞLU, A. S., Sarman, E., Tepebaşı, M. Y., Bi̇ndal, A., Gülal, A., & Aşçı, H. (2026) · Naunyn-Schmiedeberg s Archives of Pharmacology · doi:10.1007/s00210-026-05704-z
- Authors
- Verheijden, S., Bottelbergs, A., Krysko, O., Krysko, D. V., Beckers, L., De Munter, S., Van Veldhoven, P. P., Wyns, S., Kulik, W., Nave, K.-A., Ramer, M. S., Carmeliet, P., Kassmann, C. M., & Baes, M.
- Affiliations
- KU Leuven (BE)
- Ghent University Hospital (BE)
- Ghent University (BE)
- Amsterdam UMC Location University of Amsterdam (NL)
- Max Planck Institute of Experimental Medicine (DE)
- University of British Columbia (CA)
- Corresponding author
- Baes, Myriam
- ORCID
- Venue
- Neurobiology of Disease
- Publisher
- Elsevier BV
- Published
- 2013-10
- Volume
- 58
- Pages
- 258-269
- ISSN
- 0969-9961 (ISSN-L)
- OpenAlex
- W2063156662
- Cited by
- 54
- References
- 52
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 2 · 2023: 4 · 2022: 5 · 2021: 3 · 2020: 2 · 2019: 1 · 2018: 5 · 2017: 7 · 2016: 5 · 2015: 4 · 2014: 6 · 2013: 2 · 2012: 1
- FWCI
- 3.72
- Type
- journal article
- Language
- en
- Open access
- green
- doaj.org
- Licence
- Locations
- Neurobiology of Disease (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Max Planck Institute for Plasma Physics (submittedVersion)
- Lirias (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- Funders
- Fonds Wetenschappelijk Onderzoek Vlaanderen (G.0760.09, G.0675.12)
- Bijzonder Onderzoeksfonds KU Leuven (OT08/40, OT12/79)
- European Union (LSHG-CT-2004-512018)
- ELA2007-0004I4
- Methusalem Funding
- Flemish Government
- IWT Vlaanderen
- FWO-Vlaanderen
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Keywords
- neuroinflammation, Purkinje cell degeneration, spinocerebellar ataxia, cerebellar atrophy, very long chain fatty acids, oligodendrocytes, motor impairment, ataxia, innate immune activation, neurodegeneration
- MeSH terms
- Age Factors, Animals, Antigens, Differentiation, Brain, Calcium-Binding Proteins, Deficiency Diseases, Encephalitis, Myelin Basic Protein, Fatty Acids, Gene Expression Regulation, Locomotion, Gas Chromatography-Mass Spectrometry, Mice, Transgenic, Microfilament Proteins, Nerve Degeneration, Purkinje Cells, Cytokines, Mice, 2',3'-Cyclic Nucleotide 3'-Phosphodiesterase, Peroxisomal Multifunctional Protein-2, Nestin
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