Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.
Open accessAbstract
Adrenoleukodystrophy (ALD), a lethal demyelinating disease of the brain, is caused by mutations of a gene encoding an ATP-binding transporter, called ALDP, localized in the peroxisomal membrane. It is associated with a defective oxidation of very-long-chain fatty acids, leading to their accumulation in many tissues. This study reports that the retroviral-mediated transfer of the ALD cDNA restored very-long-chain fatty acid oxidation in ALD fibroblasts in vitro following abundant expression and appropriate targeting of the vector-encoded ALDP in peroxisomes. The same method may be used in hematopoietic cells as a further step of a gene therapy approach of ALD.
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Expression of ALDP cDNA in X-ALD patient fibroblasts restores VLCFA β-oxidation.
“Transfection studies have shown that expression of ALDP cDNA in X-ALD patient fibroblasts restores VLCFA β-oxidation [Cartier et al., 1995].”
From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Cartier et al., 1995
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- Authors
- Cartier, N., Lopez, J., Moullier, P., Rocchiccioli, F., Rolland, M. O., Jorge, P., Mosser, J., Mandel, J. L., Bougnères, P. F., & Danos, O.
- Affiliations
- Inserm (FR)
- Institut National de la Santé et de la Recherche Médicale U342, Université René Descartes, Hôpital Saint-Vincent de Paul, Paris, France.
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 1995-02-28
- Volume
- 92
- Issue
- 5
- Pages
- 1674-1678
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC42582
- OpenAlex
- W2024526192
- Cited by
- 105
- References
- 3
- Citations by year
- 2025: 2 · 2022: 3 · 2021: 4 · 2020: 2 · 2019: 2 · 2017: 2 · 2016: 1 · 2014: 2 · 2013: 1 · 2012: 2
- FWCI
- 5.82
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- adrenoleukodystrophy, ALDP, retroviral gene transfer, peroxisomes, fibroblasts, gene therapy, demyelinating disease, fatty acid accumulation
- MeSH terms
- Adrenoleukodystrophy, Fatty Acids, Fibroblasts, Fluorescent Antibody Technique, Genetic Vectors, Humans, Retroviridae, RNA, Messenger, Gene Expression Regulation, Enzymologic, Gene Transfer Techniques, DNA, Complementary, In Vitro Techniques
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