Peroxisome biogenesis disorders: the role of peroxisomes and metabolic dysfunction in developing brain
Abstract
Peroxisome biogenesis disorders, of which Zellweger syndrome is the most severe, result in severe neurological dysfunction associated with abnormal CNS neuronal migrations due to the lack of functional peroxisomes. The PEX2-/- mouse model for Zellweger syndrome has enabled us to evaluate the role of peroxisomes in the development and functioning of the nervous system. These studies have shown that, in addition to disturbances in neuronal migration in developing cerebral cortex and cerebellum, defects in neuronal differentiation, proliferation and survival may also contribute to the CNS malformations. However, owing to the multiorgan dysfunction in peroxisomal disorders, it has been difficult to clearly define an intrinsic role for the peroxisome in brain cells. The use of several in vitro cell culture assays to evaluate the migration and differentiation of cerebellar neurons demonstrates a persistence of defects in peroxisome-deficient neurons. The absence of potential systemically derived, extrinsic factors in these in vitro systems indicates that CNS intrinsic defects contribute to the pathogenesis of disease in these disorders. However, bile acid treatment also increases the survival and growth of PEX2-/- mice and improves some aspects of cerebellar development, indicating that extrinsic factors also affect the developing peroxisome-deficient brain. Therefore, the final phenotype of nervous system dysfunction in peroxisomal disorders will reflect a combination of both CNS intrinsic and extrinsic factors.
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Progressive axonal swellings along Purkinje cell axons in these mice indicated ongoing dystrophic, neurodegenerative processes.
“In addition, progressive axonal swellings along Purkinje cell axons indicated ongoing dystrophic, neurodegenerative processes.”
From Peroxisomes in brain development and function (2016) · cites this paper as [69]
In longer surviving Pex2−/− mice, studies revealed multiple anomalies affecting the interaction of climbing fibers, granule cells and Purkinje cells and, thus, the cerebellar circuitry.
“These studies revealed multiple anomalies affecting the interaction of climbing fibers, granule cells and Purkinje cells and, thus, the cerebellar circuitry.”
From Peroxisomes in brain development and function (2016) · cites this paper as [69]
Purkinje cells in these mice displayed stunted dendrite trees with abnormal branches and spine morphology.
“The Purkinje cells displayed stunted dendrite trees with abnormal branches and spine morphology.”
From Peroxisomes in brain development and function (2016) · cites this paper as [69]
Disturbed dendritic spine compartmentalization in these mice reflected a delayed arborization and translocation of climbing fibers from the inferior olivary nucleus.
“The disturbed dendritic spine compartmentalization reflected a delayed arborization and translocation of the climbing fibers from the inferior olivary nucleus (the major excitatory input to the Purkinje cells from the caudal medulla).”
From Peroxisomes in brain development and function (2016) · cites this paper as [69]
Bile acid treatment can partially restore cerebellar anomalies in Pex2-deficient mice.
“The mechanisms are not resolved but Faust and collaborators showed that bile acid treatment can partially restore the cerebellar anomalies in Pex2-deficient mice [69].”
From Peroxisomes in brain development and function (2016) · cites this paper as [69]
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Zellweger Spectrum Disorders: Beyond the Peroxisome
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- Authors
- Faust, P. L., Banka, D., Siriratsivawong, R., Ng, V. G., & Wikander, T. M.
- Affiliations
- Columbia University (US)
- Corresponding author
- Faust, P. L.
- ORCID
- Faust, P. L.
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 2005-05
- Volume
- 28
- Issue
- 3
- Pages
- 369-383
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- OpenAlex
- W1991079717
- Cited by
- 82
- References
- 29
- Citations by year
- 2026: 4 · 2025: 3 · 2024: 1 · 2023: 4 · 2022: 1 · 2021: 3 · 2020: 5 · 2019: 4 · 2018: 2 · 2017: 3 · 2016: 5 · 2015: 2 · 2014: 6 · 2013: 4 · 2012: 4
- FWCI
- 3.53
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Inherited Metabolic Disease (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD36807, R01HD036807)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Keywords
- peroxisome biogenesis disorders, Zellweger syndrome, neuronal migration, cerebellar development, cortical development, neuronal differentiation, neuronal proliferation, neuronal survival, cerebellar neurons, central nervous system malformations, neurological disorders
- MeSH terms
- Animals, Brain, Brain Chemistry, Cell Differentiation, Cell Movement, Humans, Metabolism, Inborn Errors, Purkinje Cells, Zellweger Syndrome, Mice, Knockout, Peroxisomal Disorders, Peroxisomes, Mice
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