Developing AAV-delivered nonsense suppressor tRNAs for neurological disorders

Adeno-associated virus (AAV)-based gene therapy is a clinical stage therapeutic modality for neurological disorders. A common genetic defect in myriad monogenic neurological disorders is nonsense mutations that account for about 11% of all human pathogenic mutations. Stop codon readthrough by suppre...

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Main Authors: Jiaming Wang, Guangping Gao, Dan Wang
Format: Article
Language:English
Published: Elsevier 2024-07-01
Series:Neurotherapeutics
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Online Access:http://www.sciencedirect.com/science/article/pii/S1878747924000771
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author Jiaming Wang
Guangping Gao
Dan Wang
author_facet Jiaming Wang
Guangping Gao
Dan Wang
author_sort Jiaming Wang
collection DOAJ
description Adeno-associated virus (AAV)-based gene therapy is a clinical stage therapeutic modality for neurological disorders. A common genetic defect in myriad monogenic neurological disorders is nonsense mutations that account for about 11% of all human pathogenic mutations. Stop codon readthrough by suppressor transfer RNA (sup-tRNA) has long been sought as a potential gene therapy approach to target nonsense mutations, but hindered by inefficient in vivo delivery. The rapid advances in AAV delivery technology have not only powered gene therapy development but also enabled in vivo preclinical assessment of a range of nucleic acid therapeutics, such as sup-tRNA. Compared with conventional AAV gene therapy that delivers a transgene to produce therapeutic proteins, AAV-delivered sup-tRNA has several advantages, such as small gene sizes and operating within the endogenous gene expression regulation, which are important considerations for treating some neurological disorders. This review will first examine sup-tRNA designs and delivery by AAV vectors. We will then analyze how AAV-delivered sup-tRNA can potentially address some neurological disorders that are challenging to conventional gene therapy, followed by discussing available mouse models of neurological diseases for in vivo preclinical testing. Potential challenges for AAV-delivered sup-tRNA to achieve therapeutic efficacy and safety will also be discussed.
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spelling doaj-art-df387ac4c6094baebea12d928cbd46262025-08-20T01:54:30ZengElsevierNeurotherapeutics1878-74792024-07-01214e0039110.1016/j.neurot.2024.e00391Developing AAV-delivered nonsense suppressor tRNAs for neurological disordersJiaming Wang0Guangping Gao1Dan Wang2Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA; Department of Microbiology and Physiological Systems, University of Massachusetts Chan Medical School, Worcester, MA 01605, USAHorae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA; Department of Microbiology and Physiological Systems, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA; Corresponding authors.Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA; RNA Therapeutics Institute, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA; Corresponding authors.Adeno-associated virus (AAV)-based gene therapy is a clinical stage therapeutic modality for neurological disorders. A common genetic defect in myriad monogenic neurological disorders is nonsense mutations that account for about 11% of all human pathogenic mutations. Stop codon readthrough by suppressor transfer RNA (sup-tRNA) has long been sought as a potential gene therapy approach to target nonsense mutations, but hindered by inefficient in vivo delivery. The rapid advances in AAV delivery technology have not only powered gene therapy development but also enabled in vivo preclinical assessment of a range of nucleic acid therapeutics, such as sup-tRNA. Compared with conventional AAV gene therapy that delivers a transgene to produce therapeutic proteins, AAV-delivered sup-tRNA has several advantages, such as small gene sizes and operating within the endogenous gene expression regulation, which are important considerations for treating some neurological disorders. This review will first examine sup-tRNA designs and delivery by AAV vectors. We will then analyze how AAV-delivered sup-tRNA can potentially address some neurological disorders that are challenging to conventional gene therapy, followed by discussing available mouse models of neurological diseases for in vivo preclinical testing. Potential challenges for AAV-delivered sup-tRNA to achieve therapeutic efficacy and safety will also be discussed.http://www.sciencedirect.com/science/article/pii/S1878747924000771AAVNonsense mutationNeurological disorderPremature termination codonSuppressor tRNA
spellingShingle Jiaming Wang
Guangping Gao
Dan Wang
Developing AAV-delivered nonsense suppressor tRNAs for neurological disorders
Neurotherapeutics
AAV
Nonsense mutation
Neurological disorder
Premature termination codon
Suppressor tRNA
title Developing AAV-delivered nonsense suppressor tRNAs for neurological disorders
title_full Developing AAV-delivered nonsense suppressor tRNAs for neurological disorders
title_fullStr Developing AAV-delivered nonsense suppressor tRNAs for neurological disorders
title_full_unstemmed Developing AAV-delivered nonsense suppressor tRNAs for neurological disorders
title_short Developing AAV-delivered nonsense suppressor tRNAs for neurological disorders
title_sort developing aav delivered nonsense suppressor trnas for neurological disorders
topic AAV
Nonsense mutation
Neurological disorder
Premature termination codon
Suppressor tRNA
url http://www.sciencedirect.com/science/article/pii/S1878747924000771
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AT guangpinggao developingaavdeliverednonsensesuppressortrnasforneurologicaldisorders
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