Gene therapy as an emerging treatment for Scn2a mutation-induced autism spectrum disorders

Autism spectrum disorder (ASD) is a complex neurological and developmental disorder that affects how a person acts, communicates, learns, and interacts with others. It affects the structure and function of the brain and nervous system. How ASD is caused remains uncertain and there is no effective tr...

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Main Authors: Arkadeep Ghosh, Nitin Nadella, A Paula Monaghan-Nichols, Xiang-Ping Chu
Format: Article
Language:English
Published: KeAi Communications Co. Ltd. 2024-11-01
Series:Fundamental Research
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Online Access:http://www.sciencedirect.com/science/article/pii/S266732582300033X
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author Arkadeep Ghosh
Nitin Nadella
A Paula Monaghan-Nichols
Xiang-Ping Chu
author_facet Arkadeep Ghosh
Nitin Nadella
A Paula Monaghan-Nichols
Xiang-Ping Chu
author_sort Arkadeep Ghosh
collection DOAJ
description Autism spectrum disorder (ASD) is a complex neurological and developmental disorder that affects how a person acts, communicates, learns, and interacts with others. It affects the structure and function of the brain and nervous system. How ASD is caused remains uncertain and there is no effective treatment for this disorder. Searching for new technologies for treatment of this disorder becomes a priority. Genetic alterations have been implicated in the generation of this disorder. One of the most promising genes for potential treatment of ASD is sodium voltage-gated channel alpha subunit 2 gene (SCN2A). SCN2A, encoding the neuronal voltage-gated Na+ channel NaV1.2, is one of the most commonly affected loci linked to ASD. Here, we discuss the implications of loss of function (LOF) mutations in SCN2A and the potential efficacy of gene therapy by highlighting the usage of CRISPR restoration of various Scn2a-insufficiencies. Various therapeutics exist that can be extrapolated to address the needs of Scn2a LOF induced ASD. The current treatment that exists for ASD can be seen as outdated in comparison to the advent of new technologies that build upon CRISPR. Due to complications in treatment of ASD, genetic therapies may induce alterations such as insertion–deletion mutations, which may lead to further complications along with a negative public outlook on CRISPR technologies. Gene therapy can be applied to ASD but much work is yet to be done in order to address both biochemical and ethical considerations.
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spelling doaj-art-e1c72488ef3244288823a7fa141a05f72024-12-01T05:08:49ZengKeAi Communications Co. Ltd.Fundamental Research2667-32582024-11-014614011404Gene therapy as an emerging treatment for Scn2a mutation-induced autism spectrum disordersArkadeep Ghosh0Nitin Nadella1A Paula Monaghan-Nichols2Xiang-Ping Chu3Department of Biomedical Sciences, University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, United StatesDepartment of Biomedical Sciences, University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, United StatesDepartment of Biomedical Sciences, University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, United StatesCorresponding author.; Department of Biomedical Sciences, University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, United StatesAutism spectrum disorder (ASD) is a complex neurological and developmental disorder that affects how a person acts, communicates, learns, and interacts with others. It affects the structure and function of the brain and nervous system. How ASD is caused remains uncertain and there is no effective treatment for this disorder. Searching for new technologies for treatment of this disorder becomes a priority. Genetic alterations have been implicated in the generation of this disorder. One of the most promising genes for potential treatment of ASD is sodium voltage-gated channel alpha subunit 2 gene (SCN2A). SCN2A, encoding the neuronal voltage-gated Na+ channel NaV1.2, is one of the most commonly affected loci linked to ASD. Here, we discuss the implications of loss of function (LOF) mutations in SCN2A and the potential efficacy of gene therapy by highlighting the usage of CRISPR restoration of various Scn2a-insufficiencies. Various therapeutics exist that can be extrapolated to address the needs of Scn2a LOF induced ASD. The current treatment that exists for ASD can be seen as outdated in comparison to the advent of new technologies that build upon CRISPR. Due to complications in treatment of ASD, genetic therapies may induce alterations such as insertion–deletion mutations, which may lead to further complications along with a negative public outlook on CRISPR technologies. Gene therapy can be applied to ASD but much work is yet to be done in order to address both biochemical and ethical considerations.http://www.sciencedirect.com/science/article/pii/S266732582300033XAutism spectrum disorderSCN2AGene therapyCRISPRVoltage-gated sodium channelMutation
spellingShingle Arkadeep Ghosh
Nitin Nadella
A Paula Monaghan-Nichols
Xiang-Ping Chu
Gene therapy as an emerging treatment for Scn2a mutation-induced autism spectrum disorders
Fundamental Research
Autism spectrum disorder
SCN2A
Gene therapy
CRISPR
Voltage-gated sodium channel
Mutation
title Gene therapy as an emerging treatment for Scn2a mutation-induced autism spectrum disorders
title_full Gene therapy as an emerging treatment for Scn2a mutation-induced autism spectrum disorders
title_fullStr Gene therapy as an emerging treatment for Scn2a mutation-induced autism spectrum disorders
title_full_unstemmed Gene therapy as an emerging treatment for Scn2a mutation-induced autism spectrum disorders
title_short Gene therapy as an emerging treatment for Scn2a mutation-induced autism spectrum disorders
title_sort gene therapy as an emerging treatment for scn2a mutation induced autism spectrum disorders
topic Autism spectrum disorder
SCN2A
Gene therapy
CRISPR
Voltage-gated sodium channel
Mutation
url http://www.sciencedirect.com/science/article/pii/S266732582300033X
work_keys_str_mv AT arkadeepghosh genetherapyasanemergingtreatmentforscn2amutationinducedautismspectrumdisorders
AT nitinnadella genetherapyasanemergingtreatmentforscn2amutationinducedautismspectrumdisorders
AT apaulamonaghannichols genetherapyasanemergingtreatmentforscn2amutationinducedautismspectrumdisorders
AT xiangpingchu genetherapyasanemergingtreatmentforscn2amutationinducedautismspectrumdisorders