Cargando…

Autism throughout genetics: Perusal of the implication of ion channels

BACKGROUND: Autism spectrum disorder (ASD) comprises a group of neurodevelopmental psychiatric disorders characterized by deficits in social interactions, interpersonal communication, repetitive and stereotyped behaviors and may be associated with intellectual disabilities. The description of ASD as...

Descripción completa

Detalles Bibliográficos
Autores principales: Daghsni, Marwa, Rima, Mohamad, Fajloun, Ziad, Ronjat, Michel, Brusés, Juan L., M'rad, Ridha, De Waard, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6085908/
https://www.ncbi.nlm.nih.gov/pubmed/29934975
http://dx.doi.org/10.1002/brb3.978
_version_ 1783346417226481664
author Daghsni, Marwa
Rima, Mohamad
Fajloun, Ziad
Ronjat, Michel
Brusés, Juan L.
M'rad, Ridha
De Waard, Michel
author_facet Daghsni, Marwa
Rima, Mohamad
Fajloun, Ziad
Ronjat, Michel
Brusés, Juan L.
M'rad, Ridha
De Waard, Michel
author_sort Daghsni, Marwa
collection PubMed
description BACKGROUND: Autism spectrum disorder (ASD) comprises a group of neurodevelopmental psychiatric disorders characterized by deficits in social interactions, interpersonal communication, repetitive and stereotyped behaviors and may be associated with intellectual disabilities. The description of ASD as a synaptopathology highlights the importance of the synapse and the implication of ion channels in the etiology of these disorders. METHODS: A narrative and critical review of the relevant papers from 1982 to 2017 known by the authors was conducted. RESULTS: Genome‐wide linkages, association studies, and genetic analyses of patients with ASD have led to the identification of several candidate genes and mutations linked to ASD. Many of the candidate genes encode for proteins involved in neuronal development and regulation of synaptic function including ion channels and actors implicated in synapse formation. The involvement of ion channels in ASD is of great interest as they represent attractive therapeutic targets. In agreement with this view, recent findings have shown that drugs modulating ion channel function are effective for the treatment of certain types of patients with ASD. CONCLUSION: This review describes the genetic aspects of ASD with a focus on genes encoding ion channels and highlights the therapeutic implications of ion channels in the treatment of ASD.
format Online
Article
Text
id pubmed-6085908
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-60859082018-08-16 Autism throughout genetics: Perusal of the implication of ion channels Daghsni, Marwa Rima, Mohamad Fajloun, Ziad Ronjat, Michel Brusés, Juan L. M'rad, Ridha De Waard, Michel Brain Behav Review BACKGROUND: Autism spectrum disorder (ASD) comprises a group of neurodevelopmental psychiatric disorders characterized by deficits in social interactions, interpersonal communication, repetitive and stereotyped behaviors and may be associated with intellectual disabilities. The description of ASD as a synaptopathology highlights the importance of the synapse and the implication of ion channels in the etiology of these disorders. METHODS: A narrative and critical review of the relevant papers from 1982 to 2017 known by the authors was conducted. RESULTS: Genome‐wide linkages, association studies, and genetic analyses of patients with ASD have led to the identification of several candidate genes and mutations linked to ASD. Many of the candidate genes encode for proteins involved in neuronal development and regulation of synaptic function including ion channels and actors implicated in synapse formation. The involvement of ion channels in ASD is of great interest as they represent attractive therapeutic targets. In agreement with this view, recent findings have shown that drugs modulating ion channel function are effective for the treatment of certain types of patients with ASD. CONCLUSION: This review describes the genetic aspects of ASD with a focus on genes encoding ion channels and highlights the therapeutic implications of ion channels in the treatment of ASD. John Wiley and Sons Inc. 2018-06-22 /pmc/articles/PMC6085908/ /pubmed/29934975 http://dx.doi.org/10.1002/brb3.978 Text en © 2018 The Authors. Brain and Behavior published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Daghsni, Marwa
Rima, Mohamad
Fajloun, Ziad
Ronjat, Michel
Brusés, Juan L.
M'rad, Ridha
De Waard, Michel
Autism throughout genetics: Perusal of the implication of ion channels
title Autism throughout genetics: Perusal of the implication of ion channels
title_full Autism throughout genetics: Perusal of the implication of ion channels
title_fullStr Autism throughout genetics: Perusal of the implication of ion channels
title_full_unstemmed Autism throughout genetics: Perusal of the implication of ion channels
title_short Autism throughout genetics: Perusal of the implication of ion channels
title_sort autism throughout genetics: perusal of the implication of ion channels
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6085908/
https://www.ncbi.nlm.nih.gov/pubmed/29934975
http://dx.doi.org/10.1002/brb3.978
work_keys_str_mv AT daghsnimarwa autismthroughoutgeneticsperusaloftheimplicationofionchannels
AT rimamohamad autismthroughoutgeneticsperusaloftheimplicationofionchannels
AT fajlounziad autismthroughoutgeneticsperusaloftheimplicationofionchannels
AT ronjatmichel autismthroughoutgeneticsperusaloftheimplicationofionchannels
AT brusesjuanl autismthroughoutgeneticsperusaloftheimplicationofionchannels
AT mradridha autismthroughoutgeneticsperusaloftheimplicationofionchannels
AT dewaardmichel autismthroughoutgeneticsperusaloftheimplicationofionchannels