Gene therapy in neuromuscular disorders

Detalhes bibliográficos
Autor(a) principal: Mendonça,Rodrigo Holanda
Data de Publicação: 2022
Outros Autores: Zanoteli,Edmar
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos de neuro-psiquiatria (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2022000700249
Resumo: Abstract Monogenic neuromuscular disorders are potentially treatable through gene therapy. Using viral vectors, a therapeutic transgene aims to restore normal levels of a protein not produced by the defective gene, or to silence a gene whose expression leads to toxic effects. Spinal Muscular Atrophy (SMA) is a good example of a monogenic disease that currently has an AAV9-based vector gene therapy as a therapeutic option. In this review, we intend to discuss the viral vectors and their mechanisms of action, in addition to reviewing the clinical trials that supported the approval of gene therapy (AVXS-101) for SMA as well as neuromuscular diseases that are potentially treatable with gene replacement therapy.
id ABNEURO-1_8dc2b12844215ec0ef7d6655f16dd840
oai_identifier_str oai:scielo:S0004-282X2022000700249
network_acronym_str ABNEURO-1
network_name_str Arquivos de neuro-psiquiatria (Online)
repository_id_str
spelling Gene therapy in neuromuscular disordersGenetic TherapyDependovirus or Adeno-Associated Virus (AAVs)Muscular Atrophy, SpinalSurvival of Motor Neuron 1 ProteinGenetic VectorsAbstract Monogenic neuromuscular disorders are potentially treatable through gene therapy. Using viral vectors, a therapeutic transgene aims to restore normal levels of a protein not produced by the defective gene, or to silence a gene whose expression leads to toxic effects. Spinal Muscular Atrophy (SMA) is a good example of a monogenic disease that currently has an AAV9-based vector gene therapy as a therapeutic option. In this review, we intend to discuss the viral vectors and their mechanisms of action, in addition to reviewing the clinical trials that supported the approval of gene therapy (AVXS-101) for SMA as well as neuromuscular diseases that are potentially treatable with gene replacement therapy.Academia Brasileira de Neurologia - ABNEURO2022-05-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2022000700249Arquivos de Neuro-Psiquiatria v.80 n.5 suppl.1 2022reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/0004-282x-anp-2022-s135info:eu-repo/semantics/openAccessMendonça,Rodrigo HolandaZanoteli,Edmareng2022-08-16T00:00:00Zoai:scielo:S0004-282X2022000700249Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2022-08-16T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv Gene therapy in neuromuscular disorders
title Gene therapy in neuromuscular disorders
spellingShingle Gene therapy in neuromuscular disorders
Mendonça,Rodrigo Holanda
Genetic Therapy
Dependovirus or Adeno-Associated Virus (AAVs)
Muscular Atrophy, Spinal
Survival of Motor Neuron 1 Protein
Genetic Vectors
title_short Gene therapy in neuromuscular disorders
title_full Gene therapy in neuromuscular disorders
title_fullStr Gene therapy in neuromuscular disorders
title_full_unstemmed Gene therapy in neuromuscular disorders
title_sort Gene therapy in neuromuscular disorders
author Mendonça,Rodrigo Holanda
author_facet Mendonça,Rodrigo Holanda
Zanoteli,Edmar
author_role author
author2 Zanoteli,Edmar
author2_role author
dc.contributor.author.fl_str_mv Mendonça,Rodrigo Holanda
Zanoteli,Edmar
dc.subject.por.fl_str_mv Genetic Therapy
Dependovirus or Adeno-Associated Virus (AAVs)
Muscular Atrophy, Spinal
Survival of Motor Neuron 1 Protein
Genetic Vectors
topic Genetic Therapy
Dependovirus or Adeno-Associated Virus (AAVs)
Muscular Atrophy, Spinal
Survival of Motor Neuron 1 Protein
Genetic Vectors
description Abstract Monogenic neuromuscular disorders are potentially treatable through gene therapy. Using viral vectors, a therapeutic transgene aims to restore normal levels of a protein not produced by the defective gene, or to silence a gene whose expression leads to toxic effects. Spinal Muscular Atrophy (SMA) is a good example of a monogenic disease that currently has an AAV9-based vector gene therapy as a therapeutic option. In this review, we intend to discuss the viral vectors and their mechanisms of action, in addition to reviewing the clinical trials that supported the approval of gene therapy (AVXS-101) for SMA as well as neuromuscular diseases that are potentially treatable with gene replacement therapy.
publishDate 2022
dc.date.none.fl_str_mv 2022-05-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2022000700249
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2022000700249
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/0004-282x-anp-2022-s135
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
dc.source.none.fl_str_mv Arquivos de Neuro-Psiquiatria v.80 n.5 suppl.1 2022
reponame:Arquivos de neuro-psiquiatria (Online)
instname:Academia Brasileira de Neurologia
instacron:ABNEURO
instname_str Academia Brasileira de Neurologia
instacron_str ABNEURO
institution ABNEURO
reponame_str Arquivos de neuro-psiquiatria (Online)
collection Arquivos de neuro-psiquiatria (Online)
repository.name.fl_str_mv Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia
repository.mail.fl_str_mv ||revista.arquivos@abneuro.org
_version_ 1754212791798988800

Registros relacionados