Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy
Open accessAbstract
X-linked adrenoleukodystrophy (X-ALD) is a devastating neurological disorder caused by mutations in the ABCD1 gene that encodes a peroxisomal ATP-binding cassette transporter (ABCD1) responsible for transport of CoA-activated very long-chain fatty acids (VLCFA) into the peroxisome for degradation. We used recombinant adenoassociated virus serotype 9 (rAAV9) vector for delivery of the human ABCD1 gene (ABCD1) to mouse central nervous system (CNS). In vitro, efficient delivery of ABCD1 gene was achieved in primary mixed brain glial cells from Abcd1-/- mice as well as X-ALD patient fibroblasts. Importantly, human ABCD1 localized to the peroxisome, and AAV-ABCD1 transduction showed a dose-dependent effect in reducing VLCFA. In vivo, AAV9-ABCD1 was delivered to Abcd1-/- mouse CNS by either stereotactic intracerebroventricular (ICV) or intravenous (IV) injections. Astrocytes, microglia and neurons were the major target cell types following ICV injection, while IV injection also delivered to microvascular endothelial cells and oligodendrocytes. IV injection also yielded high transduction of the adrenal gland. Importantly, IV injection of AAV9-ABCD1 reduced VLCFA in mouse brain and spinal cord. We conclude that AAV9-mediated ABCD1 gene transfer is able to reach target cells in the nervous system and adrenal gland as well as reduce VLCFA in culture and a mouse model of X-ALD.
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Restoration of ABCD1 expression of the neuron populations targeted in these studies had no significant or consistent effect on motor performance.
“In summary, restoration of ABCD1 expression of the neuron populations targeted in these studies had no significant or consistent effect on motor performance.”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [291]
The co-transduction of astrocytes may have played an additional role in the gene therapy effect.
“The co-transduction of astrocytes may have played an additional role, as suggested by previous gene therapy attempts that used a vector targeting neurons and astrocytes, but this had a more limited effect than the OL-targeting vector [79,290,291].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [291]
The cited routes of administration did not allow the vector to transduce neurons of the motor cortex from which corticospinal axons originate.
“In addition, the cited routes of administration did not allow the vector to transduce neurons of the motor cortex from which corticospinal axons originate.”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [291]
Intracerebroventricular injection of the same vector induced hABCD1 expression in spinal cord neurons, astrocytes, and microglia, but not in OLs.
“Intracerebroventricular injection of the same vector induced hABCD1 expression in spinal cord neurons, astrocytes, and microglia, but not in OLs [79,291].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [291]
Shortly after intrathecal injection of an AAV9-CBA-hABCD1 vector into 3-5-month Abcd1−/− mice, ALDP expression was found in spinal cord and DRG neurons, but not in OLs.
“Shortly after intrathecal injection of an AAV9–CBA–hABCD1 vector into 3–5-month Abcd1−/− mice, ALDP expression was found in spinal cord and DRG neurons, but not in OLs [290,291].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [291]
An AAV9-CBA-hABCD1 vector targeting neurons and/or astrocytes had only a partial effect on disease phenotypes, notably motor deficits.
“It was previously observed that an AAV9-CBA-hABCD1 vector targeting neurons and/or astrocytes had only a partial effect on disease phenotypes, notably the motor deficits [79,290,291].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [291]
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- Authors
- Gong, Y., Mu, D., Prabhakar, S., Moser, A., Musolino, P., Ren, J., Breakefield, X. O., Maguire, C. A., & Eichler, F. S.
- Affiliations
- Massachusetts General Hospital (US)
- Corresponding author
- Eichler, Florian S
- ORCID
- Venue
- Molecular Therapy
- Publisher
- Elsevier BV
- Published
- 2015-05
- Volume
- 23
- Issue
- 5
- Pages
- 824-834
- ISSN
- 1525-0016 (ISSN-L)
- PMC
- PMC4427888
- OpenAlex
- W2014128251
- Cited by
- 74
- References
- 45
- Citations by year
- 2026: 4 · 2025: 6 · 2024: 14 · 2023: 6 · 2022: 4 · 2021: 8 · 2020: 4 · 2019: 4 · 2018: 4 · 2017: 8 · 2016: 9 · 2015: 3
- FWCI
- 5.50
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Molecular Therapy (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Foundation for the National Institutes of Health
- American Brain Tumor Association
- National Institute of Neurological Disorders and Stroke (R21NS081374, K08NS052550, NINDS P30NS045776, P30NS045776)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Interference and Gene Delivery
- Keywords
- X-linked adrenoleukodystrophy, AAV9, gene therapy, ABCD1 gene, very long chain fatty acids, intracerebroventricular administration, intravenous injection, astrocytes, microglia, oligodendrocytes, adrenal gland, central nervous system delivery
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Glutathione Peroxidase GPX1, Dependovirus, Adrenoleukodystrophy, Animals, Brain, Cells, Cultured, Disease Models, Animal, Fatty Acids, Fibroblasts, Genetic Vectors, Glutathione Peroxidase, Humans, Male, Neuroglia, Transduction, Genetic, Genetic Therapy, Gene Expression, Genes, Reporter, Mice, Knockout, ATP-Binding Cassette Transporters, Protein Transport, Cell Line, Tumor, Mice, Serogroup
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