Transduced CD34+ cells from adrenoleukodystrophy patients with HIV-derived vector mediate long-term engraftment of NOD/SCID mice
Open accessAbstract
X-linked adrenoleukodystrophy (ALD), an inherited demyelinating disorder of the central nervous system, can be corrected by allogeneic bone marrow transplantation, likely due to the turnover of brain macrophages that are bone marrow derived. ALD is characterized by an accumulation of very long chain fatty acids (VLCFA) due to the deficiency of an ATP binding cassette transporter that imports these fatty acids in peroxisomes. Murine retroviral transduction results in metabolic correction of ALD CD34(+) cells in vitro but reinfusion of these cells into ALD patients would not provide clinical benefit owing to the absence of selective advantage conferred by transgene expression. High-efficiency transduction of ALD CD34(+) peripheral blood mobilized cells was achieved using an HIV-based vector driving ALD gene expression under the elongation factor 1 alpha promoter and a protocol without prestimulation of CD34(+) cells with cytokines prior to transduction to preserve their stem cell properties. Efficient expression of the ALD gene was demonstrated in monocytes/macrophages derived from cultures of transduced ALD CD34(+) cells and in long-term culture initiating cells. VLCFA metabolism was corrected in transduced CD34(+), CFU-derived, and LTC-derived cells, indicating that the vector-encoded ALD protein was fully functional. Transplantation of transduced ALD CD34(+) cells into NOD/SCID mice resulted in long-term expression of ALD protein in monocytes/macrophages derived from engrafted stem cells.
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CD34+ cells from cALD patients contain 4.7-fold more VLCFAs than normal.
“CD34+ cells from cALD patients contain 4.7-fold more VLCFAs than normal [358].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [358]
Cites
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“Mice received bone marrow CD34+ progenitors extracted from a human donor [162] or from cALD patients that had been transduced with ABCD1 using an HIV-derived or a lentiviral vector [163,164].”
Sarkis, C., Gras, G., Sanchez, F., Mallet, J., & Serguera, C. (2013) · Journal of Biomedical Science and Engineering · doi:10.4236/jbise.2013.65071 · Cited by 1 · see citing works
“We thus sought for donor cells in the corpus callosum using an anti-human CD68 antibody, recognizing myeloid human cells, and an anti-ALDP antibody, which specifically recognizes the human peroxisomal adrenoleukodystrophy protein (hALDP) expressed by myeloid cells [28].”
BackgroundGene therapy approaches in central nervous system regenerative medicine
Bosch, A., & Chillón, M. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-818084-6.00010-6 · Cited by 1 · see citing works
Human Gene Therapy with Retrovirus and Lentivirus Vectors
Kochan, G., Stephenson, H. N., Breckpot, K., & Escors, D. (2012) · SpringerBriefs in biochemistry and molecular biology · doi:10.1007/978-3-0348-0402-8_6 · Cited by 1 · see citing works
Lira, C., Cunha, D., & Vasconcelos, Z. F. M. (2023) · Human Gene Therapy · doi:10.1089/hum.2022.237
Aerts‐Kaya, F., Güney-Esken, G., & Erol, Ö. D. (2019) · Trakya University Journal of Natural Sciences · doi:10.23902/trkjnat.483402
“Lentiviral gene therapy is currently being developed based on promising results showing ALDP expressing human microglia in the brains of NOD/SCID mice after xenotransplantation of lentivirally transduced ALDP expressing human CD34+ HSCs (Benhamida et al. 2003).”
BackgroundKerstetter, A., & Miller, R. (2010) · Regenerative medicine · doi:10.2217/rme.10.9
Genetic Manipulation of Hematopoietic Stem Cells
Trobridge, G., & Kiem, H. (2009) · doi:10.1002/9781444303537.ch10
Hematopoietic stem cell gene therapy
Thrasher, A., & Candotti, F. (2005) · Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics · doi:10.1002/047001153x.g107206
Larochelle, A., & Dunbar, C. (2012) · doi:10.1007/978-1-4614-1960-0_24
The Genetics of Myelination in Metabolic Brain Disease: The Leukodystrophies
Rumsey, J. W. (2008) · Springer eBooks · doi:10.1007/978-0-387-79112-8_15
- Authors
- Benhamida, S., Pflumio, F., Dubart-Kupperschmitt, A., Zhao-Emonet, J.-C., Cavazzana-Calvo, M., Rocchiccioli, F., Fichelson, S., Aubourg, P., Charneau, P., & Cartier, N.
- Affiliations
- Inserm (FR)
- Hôpital Cochin (FR)
- Institut Pasteur (FR)
- Corresponding author
- Cartier, Nathalie
- Venue
- Molecular Therapy
- Publisher
- Elsevier BV
- Published
- 2003-03
- Volume
- 7
- Issue
- 3
- Pages
- 317-324
- ISSN
- 1525-0016 (ISSN-L)
- OpenAlex
- W2020819071
- Cited by
- 61
- References
- 29
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 2 · 2022: 2 · 2020: 2 · 2019: 3 · 2018: 1 · 2017: 2 · 2016: 1 · 2015: 3 · 2014: 2 · 2013: 4 · 2012: 4
- FWCI
- 2.49
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Molecular Therapy (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- 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, CD34+ hematopoietic stem cells, gene therapy, monocytes/macrophages, long-term engraftment, NOD/SCID mice, long-term culture-initiating cells, demyelinating disease
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Animals, Cell Differentiation, Cell Survival, Cells, Cultured, Colony-Forming Units Assay, Flow Cytometry, Genetic Vectors, Hematopoietic Stem Cells, HIV, Humans, Transfection, Genetic Therapy, Gene Expression, Lentivirus, Mice, SCID, Mice, Inbred NOD, Gene Transfer Techniques, Hematopoietic Stem Cell Transplantation, ATP-Binding Cassette Transporters, Antigens, CD34, Peptide Elongation Factor 1, Mice
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