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.
Highlights
Autism spectrum disorders (ASD) is a lifelong disorder with onset during childhood which is characterized by rigidity and ritualistic/repetitive patterns of interest disturbing various brain regions including prefrontal, hippocampal, cerebellar, and striatal and other midbrain regions[1]
Patients with syndromic autism have chromosome structure abnormalities or mutations[16]. These syndromes have a unique single gene mutation which is linked to the synaptic protein called as mammalian target of rapamycin[19]. mTOR is a critical protein responsible for dendritic plasticity and cell survival. mTOR may be implicated in disrupted cell signaling in idiopathic
Our understanding of the genetic and epigenetic factors in ASD etiology and the interaction on the disease will be continued to improve with future studies and ongoing research results
Summary
Autism spectrum disorders (ASD) is a lifelong disorder with onset during childhood which is characterized by rigidity and ritualistic/repetitive patterns of interest disturbing various brain regions including prefrontal, hippocampal, cerebellar, and striatal and other midbrain regions[1]. Recent studies have shown that genes associated with autophagy are very important in the development and maturation of dendrites, axons, and synapses[42]. In the postmortem brains of patients with ASD, impaired autophagy, and hyperactive mTOR signaling were observed[45].
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