The Pathophysiological Link Between Reelin and Autism: Overview and New Insights.
ASD
GGC repeats
RELN
autism
brain development
reelin
single nucleotide polymorphisms
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2022
2022
Historique:
received:
03
02
2022
accepted:
14
03
2022
entrez:
15
4
2022
pubmed:
16
4
2022
medline:
16
4
2022
Statut:
epublish
Résumé
Reelin is a secreted extracellular matrix protein playing pivotal roles in neuronal migration and cortical stratification during embryonal brain development. In the adult brain, its activity is crucial for synaptic plasticity, memory processing, and cognition. Genetic alterations in RELN have been variably reported as possible contributors to the pathogenesis of autism spectrum disorders (ASD). In particular, GCCs repeats in the 5'UTR, and single nucleotide polymorphysms (SNPs) in RELN have been suggested to affect brain development and predispose to autism. We reviewed pertinent literature on RELN expression and haplotypes transmission in children with ASD, critically analyzing available evidence in support of the pathophysiological association between Reelin deficiency and ASD.
Identifiants
pubmed: 35422848
doi: 10.3389/fgene.2022.869002
pii: 869002
pmc: PMC9002092
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
869002Informations de copyright
Copyright © 2022 Scala, Grasso, Di Cara, Riva, Striano and Verrotti.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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