Genetic associations between voltage-gated calcium channels and autism spectrum disorder: a systematic review

Objectives The present review systematically summarized existing publications regarding the genetic associations between voltage-gated calcium channels (VGCCs) and autism spectrum disorder (ASD). Methods A comprehensive literature search was conducted to gather pertinent studies in three online data...

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Bibliographic Details
Published in:Molecular brain 2020-06, Vol.13 (1), p.1-96, Article 96
Main Authors: Liao, Xiaoli, Li, Yamin
Format: Article
Language:English
Subjects:
Autism
Autism spectrum disorder
Calcium channels
Calcium channels (voltage-gated)
Calcium pathway
Calcium signaling
Development and progression
Etiology
Genes
Genetic diversity
Genomes
Genomics
Homeostasis
MAP kinase
Mental disorders
Mutation
Online databases
Phenotypes
Proteins
Review
Reviews
Studies
Systematic review
Therapeutic applications
Voltage-gated calcium channels
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Summary:Objectives The present review systematically summarized existing publications regarding the genetic associations between voltage-gated calcium channels (VGCCs) and autism spectrum disorder (ASD). Methods A comprehensive literature search was conducted to gather pertinent studies in three online databases. Two authors independently screened the included records based on the selection criteria. Discrepancies in each step were settled through discussions. Results From 1163 resulting searched articles, 28 were identified for inclusion. The most prominent among the VGCCs variants found in ASD were those falling within loci encoding the [alpha] subunits, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, and CACNA1I as well as those of their accessory subunits CACNB2, CACNA2D3, and CACNA2D4. Two signaling pathways, the IP3-Ca.sup.2+ pathway and the MAPK pathway, were identified as scaffolds that united genetic lesions into a consensus etiology of ASD. Conclusions Evidence generated from this review supports the role of VGCC genetic variants in the pathogenesis of ASD, making it a promising therapeutic target. Future research should focus on the specific mechanism that connects VGCC genetic variants to the complex ASD phenotype. Keywords: Autism spectrum disorder, Voltage-gated calcium channels, Calcium signaling, Calcium pathway
ISSN:1756-6606
1756-6606
DOI:10.1186/s13041-020-00634-0