Page 114 - Read Online

Dana et al. J Transl Genet Genom 2020;4:251-62 Journal of Translational
DOI: 10.20517/jtgg.2020.25 Genetics and Genomics

Review Open Access

Animal models of autism: a perspective from
autophagy mechanisms

Halime Dana , Reyhan Tahtasakal , Elif Funda Sener 1,2
1,2
1,2
1 Department of Medical Biology, Erciyes University Medical Faculty, Kayseri 38039, Turkey.
2 Erciyes University Genome and Stem Cell Center (GENKOK), Kayseri 38039, Turkey.
Correspondence to: Assoc. Prof. Elif Funda Sener, Department of Medical Biology, Erciyes University Medical Faculty, Kayseri
38039, Turkey. E-mail: efefunda@yahoo.com
How to cite this article: Dana H, Tahtasakal R, Sener EF. Animal models of autism: a perspective from autophagy mechanisms. J
Transl Genet Genom 2020;4:251-62. http://dx.doi.org/10.20517/jtgg.2020.25
Received: 19 Mar 2020 First Decision: 6 May 2020 Revised: 28 May 2020 Accepted: 30 Jun 2020 Available online: 19 Jul 2020

Academic Editor: Tjitske Kleefstra Copy Editor: Cai-Hong Wang Production Editor: Jing Yu

Abstract
Autism spectrum disorder (ASD) is characterized by impairments in social interaction and the presence of
stereotypy and restrictive behavior. The clinical heterogeneity of ASD makes it difficult to explain the mechanisms
underlying the disease. In recent years, the association between autophagy and neuropsychiatric diseases has
been investigated. In this review, we aimed elucidate the relationship between autism and autophagy mechanism
in well-known autism relevant animal models. Autophagy is a cell-protective mechanism that allows cell survival in
low nutrient conditions, often through the degradation of aging and damaged proteins and organelles. The target
of rapamycin (TOR) complex is activated for the activation of autophagy. Apart from mTOR animal models, the
valproic acid model is frequently used in autism studies. The coiled-coil and C2 domain containing 1A ( CC2D1A)
gene is one of the new candidate genes associated with ASD. In a recent study that used Cc2d1a knock-out mice,
microtubule-associated protein 1A/1B-light chain 3 (LC3) and Beclin 1 expression levels were dysregulated in the
hippocampus. It is thought that the impaired autophagy mechanism contributes to the etiology of ASD. These
results showed that CC2D1A acts as a new biological pathway in autophagy. Choosing the right model is crucial
for ASD studies, and further progress will be made as these results become available in the clinic. In particular, it is
expected that further studies on CC2D1A will provide new information in this field.

Keywords: Autism, animal models, autophagy, CC2D1A, mammalian target of rapamycin, valproic acid

© The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use,
sharing, adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as long
as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license,
and indicate if changes were made.

www.jtggjournal.com