Glucocerebrosidase gene therapy induces alpha-synuclein clearance and neuroprotection of midbrain dopaminergic neurons in mice and macaques

Mutations in the GBA1 gene coding for glucocerebrosidase (GCase) are the main genetic risk factor for Parkinson's disease (PD). Indeed, identifying reduced GCase activity as a common feature underlying the typical neuropathological signatures of PD-even when considering idiopathic forms of PD-h...

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Autores: Sucunza, D. (Diego)|||/items/c40063b2-c2e8-466b-aaa2-5a3acb7fb1f6, Rico, A.J. (Alberto J.)|||/items/7a177958-067e-4900-943e-0271d63a5021, Roda, E. (Elvira)|||/items/7ea91585-d2d9-4d11-aabf-4daab728ca1c, Collantes, M. (María)|||/items/102ad3e7-3f57-4958-8e97-39af1c92626b, González-Aseguinolaza, G. (Gloria)|||/items/cb28732d-02bf-4339-ab60-ff738ee191ac, Rodriguez-Perez, A.I. (Ana I.)|||/items/4167ee59-145c-4ff4-a5ca-0482da3930fc, Peñuelas-Sanchez, I. (Ivan)|||/items/7022e2fa-b3b0-48ed-8d39-2020cfae85a4, Vazquez, A. (Alfonso)|||/items/7d5cb87e-5c97-4865-aea8-a4694ef0139f, Labandeira-Garcia, J.L. (José L.)|||/items/6ff85c09-f91d-4c80-bb94-2763191534eb, Broccoli, V. (Vania)|||/items/5c457f7e-0f40-47a7-996e-a243054aca6c, Lanciego-Pérez, J.L. (José Luis)|||/items/d2d4dbfe-4daf-4103-89ec-2ebf41b65cd1
Tipo de recurso: artículo
Fecha de publicación:2021
País:España
Institución:Universidad de Navarra
Repositorio:Dadun. Depósito Académico Digital de la Universidad de Navarra
Idioma:inglés
OAI Identifier:oai:dadun.unav.edu:10171/114741
Acceso en línea:https://hdl.handle.net/10171/114741
Access Level:acceso abierto
Palabra clave:GBA1
Parkinson’s disease
Adeno-associated viral vectors
Neuroprotection
Synucleinopathies
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spelling Glucocerebrosidase gene therapy induces alpha-synuclein clearance and neuroprotection of midbrain dopaminergic neurons in mice and macaquesSucunza, D. (Diego)|||/items/c40063b2-c2e8-466b-aaa2-5a3acb7fb1f6Rico, A.J. (Alberto J.)|||/items/7a177958-067e-4900-943e-0271d63a5021Roda, E. (Elvira)|||/items/7ea91585-d2d9-4d11-aabf-4daab728ca1cCollantes, M. (María)|||/items/102ad3e7-3f57-4958-8e97-39af1c92626bGonzález-Aseguinolaza, G. (Gloria)|||/items/cb28732d-02bf-4339-ab60-ff738ee191acRodriguez-Perez, A.I. (Ana I.)|||/items/4167ee59-145c-4ff4-a5ca-0482da3930fcPeñuelas-Sanchez, I. (Ivan)|||/items/7022e2fa-b3b0-48ed-8d39-2020cfae85a4Vazquez, A. (Alfonso)|||/items/7d5cb87e-5c97-4865-aea8-a4694ef0139fLabandeira-Garcia, J.L. (José L.)|||/items/6ff85c09-f91d-4c80-bb94-2763191534ebBroccoli, V. (Vania)|||/items/5c457f7e-0f40-47a7-996e-a243054aca6cLanciego-Pérez, J.L. (José Luis)|||/items/d2d4dbfe-4daf-4103-89ec-2ebf41b65cd1GBA1Parkinson’s diseaseAdeno-associated viral vectorsNeuroprotectionSynucleinopathiesMutations in the GBA1 gene coding for glucocerebrosidase (GCase) are the main genetic risk factor for Parkinson's disease (PD). Indeed, identifying reduced GCase activity as a common feature underlying the typical neuropathological signatures of PD-even when considering idiopathic forms of PD-has recently paved the way for designing novel strategies focused on enhancing GCase activity to reduce alpha-synuclein burden and preventing dopaminergic cell death. Here we have performed bilateral injections of a viral vector coding for the mutated form of alpha-synuclein (rAAV9-SynA53T) for disease modeling purposes, both in mice as well as in nonhuman primates (NHPs), further inducing a progressive neuronal death in the substantia nigra pars compacta (SNpc). Next, another vector coding for the GBA1 gene (rAAV9-GBA1) was unilaterally delivered in the SNpc of mice and NHPs one month after the initial insult, together with the contralateral delivery of an empty/null rAAV9 for control purposes. Obtained results showed that GCase enhancement reduced alpha-synuclein burden, leading to improved survival of dopaminergic neurons. Data reported here support using GCase gene therapy as a disease-modifying treatment for PD and related synucleinopathies, including idiopathic forms of these disorders.MDPIDadun. Depósito Académico Digital Universidad de Navarra20212021-01-0120212021-01-01journal articlehttp://purl.org/coar/resource_type/c_6501info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/10171/114741reponame:Dadun. Depósito Académico Digital de la Universidad de Navarrainstname:Universidad de NavarraInglésengopen accesshttp://purl.org/coar/access_right/c_abf2info:eu-repo/semantics/openAccessoai:dadun.unav.edu:10171/1147412026-06-21T12:47:57Z
dc.title.none.fl_str_mv Glucocerebrosidase gene therapy induces alpha-synuclein clearance and neuroprotection of midbrain dopaminergic neurons in mice and macaques
title Glucocerebrosidase gene therapy induces alpha-synuclein clearance and neuroprotection of midbrain dopaminergic neurons in mice and macaques
spellingShingle Glucocerebrosidase gene therapy induces alpha-synuclein clearance and neuroprotection of midbrain dopaminergic neurons in mice and macaques
Sucunza, D. (Diego)|||/items/c40063b2-c2e8-466b-aaa2-5a3acb7fb1f6
GBA1
Parkinson’s disease
Adeno-associated viral vectors
Neuroprotection
Synucleinopathies
title_short Glucocerebrosidase gene therapy induces alpha-synuclein clearance and neuroprotection of midbrain dopaminergic neurons in mice and macaques
title_full Glucocerebrosidase gene therapy induces alpha-synuclein clearance and neuroprotection of midbrain dopaminergic neurons in mice and macaques
title_fullStr Glucocerebrosidase gene therapy induces alpha-synuclein clearance and neuroprotection of midbrain dopaminergic neurons in mice and macaques
title_full_unstemmed Glucocerebrosidase gene therapy induces alpha-synuclein clearance and neuroprotection of midbrain dopaminergic neurons in mice and macaques
title_sort Glucocerebrosidase gene therapy induces alpha-synuclein clearance and neuroprotection of midbrain dopaminergic neurons in mice and macaques
dc.creator.none.fl_str_mv Sucunza, D. (Diego)|||/items/c40063b2-c2e8-466b-aaa2-5a3acb7fb1f6
Rico, A.J. (Alberto J.)|||/items/7a177958-067e-4900-943e-0271d63a5021
Roda, E. (Elvira)|||/items/7ea91585-d2d9-4d11-aabf-4daab728ca1c
Collantes, M. (María)|||/items/102ad3e7-3f57-4958-8e97-39af1c92626b
González-Aseguinolaza, G. (Gloria)|||/items/cb28732d-02bf-4339-ab60-ff738ee191ac
Rodriguez-Perez, A.I. (Ana I.)|||/items/4167ee59-145c-4ff4-a5ca-0482da3930fc
Peñuelas-Sanchez, I. (Ivan)|||/items/7022e2fa-b3b0-48ed-8d39-2020cfae85a4
Vazquez, A. (Alfonso)|||/items/7d5cb87e-5c97-4865-aea8-a4694ef0139f
Labandeira-Garcia, J.L. (José L.)|||/items/6ff85c09-f91d-4c80-bb94-2763191534eb
Broccoli, V. (Vania)|||/items/5c457f7e-0f40-47a7-996e-a243054aca6c
Lanciego-Pérez, J.L. (José Luis)|||/items/d2d4dbfe-4daf-4103-89ec-2ebf41b65cd1
author Sucunza, D. (Diego)|||/items/c40063b2-c2e8-466b-aaa2-5a3acb7fb1f6
author_facet Sucunza, D. (Diego)|||/items/c40063b2-c2e8-466b-aaa2-5a3acb7fb1f6
Rico, A.J. (Alberto J.)|||/items/7a177958-067e-4900-943e-0271d63a5021
Roda, E. (Elvira)|||/items/7ea91585-d2d9-4d11-aabf-4daab728ca1c
Collantes, M. (María)|||/items/102ad3e7-3f57-4958-8e97-39af1c92626b
González-Aseguinolaza, G. (Gloria)|||/items/cb28732d-02bf-4339-ab60-ff738ee191ac
Rodriguez-Perez, A.I. (Ana I.)|||/items/4167ee59-145c-4ff4-a5ca-0482da3930fc
Peñuelas-Sanchez, I. (Ivan)|||/items/7022e2fa-b3b0-48ed-8d39-2020cfae85a4
Vazquez, A. (Alfonso)|||/items/7d5cb87e-5c97-4865-aea8-a4694ef0139f
Labandeira-Garcia, J.L. (José L.)|||/items/6ff85c09-f91d-4c80-bb94-2763191534eb
Broccoli, V. (Vania)|||/items/5c457f7e-0f40-47a7-996e-a243054aca6c
Lanciego-Pérez, J.L. (José Luis)|||/items/d2d4dbfe-4daf-4103-89ec-2ebf41b65cd1
author_role author
author2 Rico, A.J. (Alberto J.)|||/items/7a177958-067e-4900-943e-0271d63a5021
Roda, E. (Elvira)|||/items/7ea91585-d2d9-4d11-aabf-4daab728ca1c
Collantes, M. (María)|||/items/102ad3e7-3f57-4958-8e97-39af1c92626b
González-Aseguinolaza, G. (Gloria)|||/items/cb28732d-02bf-4339-ab60-ff738ee191ac
Rodriguez-Perez, A.I. (Ana I.)|||/items/4167ee59-145c-4ff4-a5ca-0482da3930fc
Peñuelas-Sanchez, I. (Ivan)|||/items/7022e2fa-b3b0-48ed-8d39-2020cfae85a4
Vazquez, A. (Alfonso)|||/items/7d5cb87e-5c97-4865-aea8-a4694ef0139f
Labandeira-Garcia, J.L. (José L.)|||/items/6ff85c09-f91d-4c80-bb94-2763191534eb
Broccoli, V. (Vania)|||/items/5c457f7e-0f40-47a7-996e-a243054aca6c
Lanciego-Pérez, J.L. (José Luis)|||/items/d2d4dbfe-4daf-4103-89ec-2ebf41b65cd1
author2_role author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Dadun. Depósito Académico Digital Universidad de Navarra
dc.subject.none.fl_str_mv GBA1
Parkinson’s disease
Adeno-associated viral vectors
Neuroprotection
Synucleinopathies
topic GBA1
Parkinson’s disease
Adeno-associated viral vectors
Neuroprotection
Synucleinopathies
description Mutations in the GBA1 gene coding for glucocerebrosidase (GCase) are the main genetic risk factor for Parkinson's disease (PD). Indeed, identifying reduced GCase activity as a common feature underlying the typical neuropathological signatures of PD-even when considering idiopathic forms of PD-has recently paved the way for designing novel strategies focused on enhancing GCase activity to reduce alpha-synuclein burden and preventing dopaminergic cell death. Here we have performed bilateral injections of a viral vector coding for the mutated form of alpha-synuclein (rAAV9-SynA53T) for disease modeling purposes, both in mice as well as in nonhuman primates (NHPs), further inducing a progressive neuronal death in the substantia nigra pars compacta (SNpc). Next, another vector coding for the GBA1 gene (rAAV9-GBA1) was unilaterally delivered in the SNpc of mice and NHPs one month after the initial insult, together with the contralateral delivery of an empty/null rAAV9 for control purposes. Obtained results showed that GCase enhancement reduced alpha-synuclein burden, leading to improved survival of dopaminergic neurons. Data reported here support using GCase gene therapy as a disease-modifying treatment for PD and related synucleinopathies, including idiopathic forms of these disorders.
publishDate 2021
dc.date.none.fl_str_mv 2021
2021-01-01
2021
2021-01-01
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/10171/114741
url https://hdl.handle.net/10171/114741
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Dadun. Depósito Académico Digital de la Universidad de Navarra
instname:Universidad de Navarra
instname_str Universidad de Navarra
reponame_str Dadun. Depósito Académico Digital de la Universidad de Navarra
collection Dadun. Depósito Académico Digital de la Universidad de Navarra
repository.name.fl_str_mv
repository.mail.fl_str_mv
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