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Alterations of presynaptic proteins in autism spectrum disorder
The expanded use of hypothesis-free gene analysis methods in autism research has significantly increased the number of genetic risk factors associated with the pathogenesis of autism. A further examination of the implicated genes directly revealed the involvement in processes pertinent to neuronal d...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9715400/ https://www.ncbi.nlm.nih.gov/pubmed/36466804 http://dx.doi.org/10.3389/fnmol.2022.1062878 |
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author | Yeo, Xin Yi Lim, Yi Tang Chae, Woo Ri Park, Chungwon Park, Hyokeun Jung, Sangyong |
author_facet | Yeo, Xin Yi Lim, Yi Tang Chae, Woo Ri Park, Chungwon Park, Hyokeun Jung, Sangyong |
author_sort | Yeo, Xin Yi |
collection | PubMed |
description | The expanded use of hypothesis-free gene analysis methods in autism research has significantly increased the number of genetic risk factors associated with the pathogenesis of autism. A further examination of the implicated genes directly revealed the involvement in processes pertinent to neuronal differentiation, development, and function, with a predominant contribution from the regulators of synaptic function. Despite the importance of presynaptic function in synaptic transmission, the regulation of neuronal network activity, and the final behavioral output, there is a relative lack of understanding of the presynaptic contribution to the pathology of autism. Here, we will review the close association among autism-related mutations, autism spectrum disorders (ASD) phenotypes, and the altered presynaptic protein functions through a systematic examination of the presynaptic risk genes relating to the critical stages of synaptogenesis and neurotransmission. |
format | Online Article Text |
id | pubmed-9715400 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-97154002022-12-03 Alterations of presynaptic proteins in autism spectrum disorder Yeo, Xin Yi Lim, Yi Tang Chae, Woo Ri Park, Chungwon Park, Hyokeun Jung, Sangyong Front Mol Neurosci Neuroscience The expanded use of hypothesis-free gene analysis methods in autism research has significantly increased the number of genetic risk factors associated with the pathogenesis of autism. A further examination of the implicated genes directly revealed the involvement in processes pertinent to neuronal differentiation, development, and function, with a predominant contribution from the regulators of synaptic function. Despite the importance of presynaptic function in synaptic transmission, the regulation of neuronal network activity, and the final behavioral output, there is a relative lack of understanding of the presynaptic contribution to the pathology of autism. Here, we will review the close association among autism-related mutations, autism spectrum disorders (ASD) phenotypes, and the altered presynaptic protein functions through a systematic examination of the presynaptic risk genes relating to the critical stages of synaptogenesis and neurotransmission. Frontiers Media S.A. 2022-11-17 /pmc/articles/PMC9715400/ /pubmed/36466804 http://dx.doi.org/10.3389/fnmol.2022.1062878 Text en Copyright © 2022 Yeo, Lim, Chae, Park, Park and Jung. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neuroscience Yeo, Xin Yi Lim, Yi Tang Chae, Woo Ri Park, Chungwon Park, Hyokeun Jung, Sangyong Alterations of presynaptic proteins in autism spectrum disorder |
title | Alterations of presynaptic proteins in autism spectrum disorder |
title_full | Alterations of presynaptic proteins in autism spectrum disorder |
title_fullStr | Alterations of presynaptic proteins in autism spectrum disorder |
title_full_unstemmed | Alterations of presynaptic proteins in autism spectrum disorder |
title_short | Alterations of presynaptic proteins in autism spectrum disorder |
title_sort | alterations of presynaptic proteins in autism spectrum disorder |
topic | Neuroscience |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9715400/ https://www.ncbi.nlm.nih.gov/pubmed/36466804 http://dx.doi.org/10.3389/fnmol.2022.1062878 |
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