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CC BY 4.0 · Arq Neuropsiquiatr 2024; 82(06): s00431777755
DOI: 10.1055/s-0043-1777755
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Gene-based therapies for neuromuscular disorders

Terapias gênicas nas doenças neuromusculares
Edmar Zanoteli 
1   Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.
,
Marcondes Cavalcante França  Jr.
2   Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brazil.
,
Wilson Marques  Jr.
3   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências do Comportamento, Ribeirão Preto SP, Brazil.
› Author Affiliations Support This study was supported by ABN (Academia Brasileira de Neurologia).
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Abstract

Neuromuscular diseases (NMD) include a broad group of medical conditions with both acquired and genetic causes. In recent years, important advances have been made in the treatment of genetically caused NMD, and most of these advances are due to the implementation of therapies aimed at gene regulation. Among these therapies, gene replacement, small interfering RNA (siRNA), and antisense antinucleotides are the most promising approaches. More importantly, some of these therapies have already gained regulatory approval or are in the final stages of approval. The review focuses on motor neuron diseases, neuropathies, and Duchenne muscular dystrophy, summarizing the most recent developments in gene-based therapies for these conditions.

Resumo

Doenças neuromusculares (DNM) compõem um grupo amplo de doenças de causa tanto adquiridas quanto genéticas. Nos últimos anos, importantes avanços ocorreram quanto ao tratamento das DNM de causa genética e grande parte desses avanços se deve à implementação de terapias voltadas para a modificação gênica. Dentre essas terapias, destacam-se as terapias de reposição gênica, uso de RNA de interferência, uso de antinucleotídeos antisense, entre outras. E, mais importante, algumas dessas terapias já se tornaram realidade na prática médica e já foram aprovadas, ou estão a poucos passos da aprovação, por órgãos governamentais regulatórios. Esta revisão aborda aspectos mais recentes quanto ao uso das terapias genéticas avançadas para algumas das formas mais comuns de DNM, em especial para doenças do neurônio motor (esclerose lateral amiotrófica e atrofia muscular espinhal), neuropatias e distrofia muscular de Duchenne.

Keywords

Gene Therapy - Muscular Atrophy, Spinal - Amyotrophic Lateral Sclerosis - Amyloid Neuropathies - Muscular Dystrophy, Duchenne

Palavras-chave

Terapia Genética - Atrofia Muscular Espinhal - Esclerose Amiotrófica Lateral - Neuropatias Amiloides - Distrofia Muscular de Duchenne

Authors' Contributions

EZ, MCFJ, WMJ: conceptualization, formal analysis, investigation, methodology, validation, writing-original draft, writing-review & editing.




Publication History

Received: 08 November 2023

Accepted: 22 November 2023

Article published online:
07 February 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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Bibliographical Record
Edmar Zanoteli, Marcondes Cavalcante França, Wilson Marques. Gene-based therapies for neuromuscular disorders. Arq Neuropsiquiatr 2024; 82: s00431777755.
DOI: 10.1055/s-0043-1777755
 

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