Long-Term Disease Prevention with a Gene Therapy Targeting Oligodendrocytes in a Mouse Model of Adrenomyeloneuropathy
Abstract
Adrenomyeloneuropathy (AMN) is a late-onset axonopathy of spinal cord tracts caused by mutations of the ABCD1 gene that encodes adrenoleukodystrophy protein (ALDP), a peroxisomal transporter of very long-chain fatty acids (VLCFA). Disturbed metabolic interaction between oligodendrocytes (OL) and axons is suspected to play a major role in AMN axonopathy. To develop a vector targeting OL, the human ABCD1 gene driven by a short 0.3 kb part of the human myelin-associated glycoprotein (MAG) promoter was packaged into an adeno-associated viral serotype 9 (rAAV9). An intravenous injection of this vector on postnatal day 10 in Abcd1 −/− mice, a model of AMN, allowed a near normal motor performance to persist for 24 months, while age-matched untreated mice developed major defects of balance and motricity. Three weeks postvector, 50–54% of spinal cord white matter OL was expressing human ALDP (hALDP) at the cervical level, and only 6–7% after 24 months. In addition, 29–32% of cervical spinal cord astrocytes at 3 weeks and 16–19% at 24 months also expressed ALDP. C26:0-lysoPC, a sensitive VLCFA marker of AMN, was lower by 41% and 50%, respectively, in the spinal cord and brain of vector-treated compared with untreated mice. In a nonhuman primate, the intrathecal injection of the rAAV9-MAG vector induced abundant ALDP expression at 3 weeks in spinal cord OL (43%, 29%, and 26% at cervical, thoracic, and lumbar levels) and cerebellum OL (35%). In addition, 33–41% of spinal cord astrocytes expressed hALDP, and 27% of cerebellar astrocytes. To our knowledge, OL targeting had not been obtained before in primates with other vectors or promoters. The current results thus provide a robust proof-of-concept not only for the gene therapy of AMN but also for other central nervous system diseases, where the targeting of OL with the rAAV9-MAG vector may be of interest.
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The level of VLCFA accumulation is associated, directly or indirectly, with the pathological phenotype in Abcd1−/− mice.
“In a recent study, we observed a strong correlation between C26:0-lysophosphatidylcholine (LPC) content in spinal cord and cerebellum with motor performances of Abcd1−/− mice, suggesting that the level of VLCFA accumulation is associated, directly or indirectly, with the pathological phenotype [172].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [172]
C26:0-lysophosphatidylcholine content in spinal cord and cerebellum strongly correlated with motor performances of Abcd1−/− mice.
“In a recent study, we observed a strong correlation between C26:0-lysophosphatidylcholine (LPC) content in spinal cord and cerebellum with motor performances of Abcd1−/− mice, suggesting that the level of VLCFA accumulation is associated, directly or indirectly, with the pathological phenotype [172].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [172]
OL and astrocyte counts were normal in the dorsal columns of the spinal cord, corpus callosum, and cerebellum of Abcd1−/− mice.
“OL and astrocyte counts were normal in the dorsal columns of the spinal cord, corpus callosum, and cerebellum [172,176].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [172]
Motor performance remained normal in all 40 Abcd1−/− mice until 16 months of age.
“Motor performance remained normal in all mice until 16 months of age.”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [172]
VLCFAs decreased in the spinal cords of treated mice that had near-normal motor performances.
“VLCFAs decreased in the spinal cords of treated mice that had near-normal motor performances [172].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [172]
Soon after intravenous vector injection into Abcd1−/− mice at day 10 of life, ABCD1 peroxisomal expression was observed in about 50% of OLs and about 30% of astrocytes in the spinal cord white matter.
“Soon after intravenous vector injection into Abcd1−/− mice at day 10 of life, ABCD1 peroxisomal expression was observed in ~50% of OLs and ~30% of astrocytes in the spinal cord white matter [172].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [172]
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- Authors
- Özgür-Günes, Y., Chedik, M., Le Stunff, C., Fovet, C.-M., & Bougnères, P.
- Affiliations
- Inserm (FR)
- UMR1195 Inserm and University Paris Saclay, Le Kremlin-Bicêtre, France.
- Commissariat à l'Énergie Atomique et aux Énergies Alternatives (FR)
- Venue
- Human Gene Therapy
- Publisher
- SAGE Publications
- Published
- 2022-09
- Volume
- 33
- Issue
- 17-18
- Pages
- 936-949
- ISSN
- 1043-0342 (ISSN-L)
- 1557-7422
- OpenAlex
- W4212912370
- Cited by
- 10
- References
- 60
- Citations by year
- 2025: 3 · 2024: 3 · 2023: 2 · 2022: 2
- FWCI
- 1.51
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Gene Therapy (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Agence Nationale de la Recherche (ANR-11-INBS-0011)
- 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 › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- adrenomyeloneuropathy, gene therapy, oligodendrocytes, ABCD1, very long chain fatty acids, AAV9, astrocytes, intrathecal administration, nonhuman primate model
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Animals, Disease Models, Animal, Fatty Acids, Humans, Oligodendroglia, Genetic Therapy, Myelin-Associated Glycoprotein, Mice
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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