Gene-based therapies for neuromuscular disorders

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

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