Developing a minimally invasive gene therapy for multiple sclerosis

Multiple sclerosis (MS) is a neurological disease characterized by demyelinating lesions in the CNS. This study investigated whether a minimally invasive adeno-associated virus (AAV) vector (AAV.PHP.eB) can direct transgene expression in CNS cell types relevant to MS, including astrocytes, oligodend...

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Main Authors: Paul J.H. Nijhuis, Maurits Romijn, Roy Honing, Giselle van Zon, Inge Huitinga, Fred de Winter, Joost Verhaagen
Format: Article
Language:English
Published: Elsevier 2025-09-01
Series:Molecular Therapy: Methods & Clinical Development
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Online Access:http://www.sciencedirect.com/science/article/pii/S2329050125000993
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author Paul J.H. Nijhuis
Maurits Romijn
Roy Honing
Giselle van Zon
Inge Huitinga
Fred de Winter
Joost Verhaagen
author_facet Paul J.H. Nijhuis
Maurits Romijn
Roy Honing
Giselle van Zon
Inge Huitinga
Fred de Winter
Joost Verhaagen
author_sort Paul J.H. Nijhuis
collection DOAJ
description Multiple sclerosis (MS) is a neurological disease characterized by demyelinating lesions in the CNS. This study investigated whether a minimally invasive adeno-associated virus (AAV) vector (AAV.PHP.eB) can direct transgene expression in CNS cell types relevant to MS, including astrocytes, oligodendrocytes, oligodendrocyte precursor cells (OPCs), microglia, and neurons in experimental autoimmune encephalitis, a widely used MS model. In vivo bioluminescence imaging and histological analysis following AAV.PHP.eB-mediated gene delivery in healthy mice using the ubiquitous CAG promoter and five neural promoters (MBP, Sox10, hSyn1, gfa2, and gfaABC1D) revealed long-term, robust, and cell-type-specific activity across the brain and spinal cord. AAV.PHP.eB is capable of traversing the blood-brain barrier in experimental autoimmune encephalitis (EAE) and directs sustained and cell-type-specific transgene expression for the MBP, Sox10, hSyn1, and gfaABC1D promoters. The MBP and Sox10 promoters directed transgene expression in oligodendroglia around and within inflammatory demyelinating lesions, whereas the gfaABC1D promoter directs transgene expression in gray and white matter astrocytes and hSyn1 in neurons. The neural promoters were minimally active in the periphery, with the exception of gfa2. This methodological study is a first step toward the development of minimally invasive gene therapy to promote myelin repair and/or suppress inflammation in MS.
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spelling doaj-art-59e72a85501541ffb5877c0fdf1d97832025-08-20T03:30:29ZengElsevierMolecular Therapy: Methods & Clinical Development2329-05012025-09-0133310150410.1016/j.omtm.2025.101504Developing a minimally invasive gene therapy for multiple sclerosisPaul J.H. Nijhuis0Maurits Romijn1Roy Honing2Giselle van Zon3Inge Huitinga4Fred de Winter5Joost Verhaagen6Laboratory of Neuroregeneration, The Netherlands Institute for Neuroscience, an Institute of the Royal Netherlands Academy of Arts and Sciences, Meibergdreef 47, 1105 BA Amsterdam, the Netherlands; Corresponding author: Paul J.H. Nijhuis, Laboratory of Neuroregeneration, The Netherlands Institute for Neuroscience, an Institute of the Royal Netherlands Academy of Arts and Sciences, Meibergdreef 47, 1105 BA Amsterdam, the Netherlands.Laboratory of Neuroregeneration, The Netherlands Institute for Neuroscience, an Institute of the Royal Netherlands Academy of Arts and Sciences, Meibergdreef 47, 1105 BA Amsterdam, the NetherlandsLaboratory of Neuroregeneration, The Netherlands Institute for Neuroscience, an Institute of the Royal Netherlands Academy of Arts and Sciences, Meibergdreef 47, 1105 BA Amsterdam, the NetherlandsLaboratory of Neuroregeneration, The Netherlands Institute for Neuroscience, an Institute of the Royal Netherlands Academy of Arts and Sciences, Meibergdreef 47, 1105 BA Amsterdam, the NetherlandsLaboratory of Neuroimmunology, The Netherlands Institute for Neuroscience, an Institute of the Royal Netherlands Academy of Arts and Sciences, Meibergdreef 47, 1105 BA Amsterdam, the Netherlands; Swammerdam Institute for Life Sciences, University of Amsterdam, Sciencepark 904, 1098 XH Amsterdam, the NetherlandsLaboratory of Neuroregeneration, The Netherlands Institute for Neuroscience, an Institute of the Royal Netherlands Academy of Arts and Sciences, Meibergdreef 47, 1105 BA Amsterdam, the NetherlandsLaboratory of Neuroregeneration, The Netherlands Institute for Neuroscience, an Institute of the Royal Netherlands Academy of Arts and Sciences, Meibergdreef 47, 1105 BA Amsterdam, the NetherlandsMultiple sclerosis (MS) is a neurological disease characterized by demyelinating lesions in the CNS. This study investigated whether a minimally invasive adeno-associated virus (AAV) vector (AAV.PHP.eB) can direct transgene expression in CNS cell types relevant to MS, including astrocytes, oligodendrocytes, oligodendrocyte precursor cells (OPCs), microglia, and neurons in experimental autoimmune encephalitis, a widely used MS model. In vivo bioluminescence imaging and histological analysis following AAV.PHP.eB-mediated gene delivery in healthy mice using the ubiquitous CAG promoter and five neural promoters (MBP, Sox10, hSyn1, gfa2, and gfaABC1D) revealed long-term, robust, and cell-type-specific activity across the brain and spinal cord. AAV.PHP.eB is capable of traversing the blood-brain barrier in experimental autoimmune encephalitis (EAE) and directs sustained and cell-type-specific transgene expression for the MBP, Sox10, hSyn1, and gfaABC1D promoters. The MBP and Sox10 promoters directed transgene expression in oligodendroglia around and within inflammatory demyelinating lesions, whereas the gfaABC1D promoter directs transgene expression in gray and white matter astrocytes and hSyn1 in neurons. The neural promoters were minimally active in the periphery, with the exception of gfa2. This methodological study is a first step toward the development of minimally invasive gene therapy to promote myelin repair and/or suppress inflammation in MS.http://www.sciencedirect.com/science/article/pii/S2329050125000993AAVPHP.eBpromotersEAEMSmultiple sclerosis
spellingShingle Paul J.H. Nijhuis
Maurits Romijn
Roy Honing
Giselle van Zon
Inge Huitinga
Fred de Winter
Joost Verhaagen
Developing a minimally invasive gene therapy for multiple sclerosis
Molecular Therapy: Methods & Clinical Development
AAV
PHP.eB
promoters
EAE
MS
multiple sclerosis
title Developing a minimally invasive gene therapy for multiple sclerosis
title_full Developing a minimally invasive gene therapy for multiple sclerosis
title_fullStr Developing a minimally invasive gene therapy for multiple sclerosis
title_full_unstemmed Developing a minimally invasive gene therapy for multiple sclerosis
title_short Developing a minimally invasive gene therapy for multiple sclerosis
title_sort developing a minimally invasive gene therapy for multiple sclerosis
topic AAV
PHP.eB
promoters
EAE
MS
multiple sclerosis
url http://www.sciencedirect.com/science/article/pii/S2329050125000993
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AT gisellevanzon developingaminimallyinvasivegenetherapyformultiplesclerosis
AT ingehuitinga developingaminimallyinvasivegenetherapyformultiplesclerosis
AT freddewinter developingaminimallyinvasivegenetherapyformultiplesclerosis
AT joostverhaagen developingaminimallyinvasivegenetherapyformultiplesclerosis