Polyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies

Polyglutamine (polyQ) ataxias are a heterogenous group of neurological disorders all caused by an expanded CAG trinucleotide repeat located in the coding region of each unique causative gene. To date, polyQ ataxias encompass six disorders: spinocerebellar ataxia types 1, 2, 3, 6, 7, and 17 and accou...

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Autores principales:	Craig S. McIntosh, Dunhui Li, Steve D. Wilton, May T. Aung-Htut
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	polyglutamine ataxia antisense oligonucleotides expansion diseases Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/a2ca7d2f150f42ffa71be3091986a353
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spelling	oai:doaj.org-article:a2ca7d2f150f42ffa71be3091986a3532021-11-25T16:48:17ZPolyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies10.3390/biomedicines91114992227-9059https://doaj.org/article/a2ca7d2f150f42ffa71be3091986a3532021-10-01T00:00:00Zhttps://www.mdpi.com/2227-9059/9/11/1499https://doaj.org/toc/2227-9059Polyglutamine (polyQ) ataxias are a heterogenous group of neurological disorders all caused by an expanded CAG trinucleotide repeat located in the coding region of each unique causative gene. To date, polyQ ataxias encompass six disorders: spinocerebellar ataxia types 1, 2, 3, 6, 7, and 17 and account for a larger group of disorders simply known as polyglutamine disorders, which also includes Huntington’s disease. These diseases are typically characterised by progressive ataxia, speech and swallowing difficulties, lack of coordination and gait, and are unfortunately fatal in nature, with the exception of SCA6. All the polyQ spinocerebellar ataxias have a hallmark feature of neuronal aggregations and share many common pathogenic mechanisms, such as mitochondrial dysfunction, impaired proteasomal function, and autophagy impairment. Currently, therapeutic options are limited, with no available treatments that slow or halt disease progression. Here, we discuss the common molecular and clinical presentations of polyQ spinocerebellar ataxias. We will also discuss the promising antisense oligonucleotide therapeutics being developed as treatments for these devastating diseases. With recent advancements and therapeutic approvals of various antisense therapies, it is envisioned that some of the studies reviewed may progress into clinical trials and beyond.Craig S. McIntoshDunhui LiSteve D. WiltonMay T. Aung-HtutMDPI AGarticlepolyglutamineataxiaantisense oligonucleotidesexpansion diseasesBiology (General)QH301-705.5ENBiomedicines, Vol 9, Iss 1499, p 1499 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	polyglutamine ataxia antisense oligonucleotides expansion diseases Biology (General) QH301-705.5
spellingShingle	polyglutamine ataxia antisense oligonucleotides expansion diseases Biology (General) QH301-705.5 Craig S. McIntosh Dunhui Li Steve D. Wilton May T. Aung-Htut Polyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies
description	Polyglutamine (polyQ) ataxias are a heterogenous group of neurological disorders all caused by an expanded CAG trinucleotide repeat located in the coding region of each unique causative gene. To date, polyQ ataxias encompass six disorders: spinocerebellar ataxia types 1, 2, 3, 6, 7, and 17 and account for a larger group of disorders simply known as polyglutamine disorders, which also includes Huntington’s disease. These diseases are typically characterised by progressive ataxia, speech and swallowing difficulties, lack of coordination and gait, and are unfortunately fatal in nature, with the exception of SCA6. All the polyQ spinocerebellar ataxias have a hallmark feature of neuronal aggregations and share many common pathogenic mechanisms, such as mitochondrial dysfunction, impaired proteasomal function, and autophagy impairment. Currently, therapeutic options are limited, with no available treatments that slow or halt disease progression. Here, we discuss the common molecular and clinical presentations of polyQ spinocerebellar ataxias. We will also discuss the promising antisense oligonucleotide therapeutics being developed as treatments for these devastating diseases. With recent advancements and therapeutic approvals of various antisense therapies, it is envisioned that some of the studies reviewed may progress into clinical trials and beyond.
format	article
author	Craig S. McIntosh Dunhui Li Steve D. Wilton May T. Aung-Htut
author_facet	Craig S. McIntosh Dunhui Li Steve D. Wilton May T. Aung-Htut
author_sort	Craig S. McIntosh
title	Polyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies
title_short	Polyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies
title_full	Polyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies
title_fullStr	Polyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies
title_full_unstemmed	Polyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies
title_sort	polyglutamine ataxias: our current molecular understanding and what the future holds for antisense therapies
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/a2ca7d2f150f42ffa71be3091986a353
work_keys_str_mv	AT craigsmcintosh polyglutamineataxiasourcurrentmolecularunderstandingandwhatthefutureholdsforantisensetherapies AT dunhuili polyglutamineataxiasourcurrentmolecularunderstandingandwhatthefutureholdsforantisensetherapies AT stevedwilton polyglutamineataxiasourcurrentmolecularunderstandingandwhatthefutureholdsforantisensetherapies AT maytaunghtut polyglutamineataxiasourcurrentmolecularunderstandingandwhatthefutureholdsforantisensetherapies
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Polyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies

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