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Mol Ther ; 32(5): 1359-1372, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38429929

RESUMO

Spinocerebellar ataxia type 3 (SCA3) is the most common dominantly inherited ataxia. Currently, no preventive or disease-modifying treatments exist for this progressive neurodegenerative disorder, although efforts using gene silencing approaches are under clinical trial investigation. The disease is caused by a CAG repeat expansion in the mutant gene, ATXN3, producing an enlarged polyglutamine tract in the mutant protein. Similar to other paradigmatic neurodegenerative diseases, studies evaluating the pathogenic mechanism focus primarily on neuronal implications. Consequently, therapeutic interventions often overlook non-neuronal contributions to disease. Our lab recently reported that oligodendrocytes display some of the earliest and most progressive dysfunction in SCA3 mice. Evidence of disease-associated oligodendrocyte signatures has also been reported in other neurodegenerative diseases, including Alzheimer's disease, amyotrophic lateral sclerosis, Parkinson's disease, and Huntington's disease. Here, we assess the effects of anti-ATXN3 antisense oligonucleotide (ASO) treatment on oligodendrocyte dysfunction in premanifest and symptomatic SCA3 mice. We report a severe, but modifiable, deficit in oligodendrocyte maturation caused by the toxic gain-of-function of mutant ATXN3 early in SCA3 disease that is transcriptionally, biochemically, and functionally rescued with anti-ATXN3 ASO. Our results highlight the promising use of an ASO therapy across neurodegenerative diseases that requires glial targeting in addition to affected neuronal populations.


Assuntos
Ataxina-3 , Modelos Animais de Doenças , Doença de Machado-Joseph , Oligodendroglia , Oligonucleotídeos Antissenso , Animais , Oligodendroglia/metabolismo , Camundongos , Doença de Machado-Joseph/genética , Doença de Machado-Joseph/terapia , Doença de Machado-Joseph/patologia , Doença de Machado-Joseph/metabolismo , Ataxina-3/genética , Ataxina-3/metabolismo , Humanos , Proteínas Repressoras/genética , Proteínas Repressoras/metabolismo , Camundongos Transgênicos
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