Abstract:Recent breakthroughs in sequencing technology and technological developments have made it easier to analyze the entire human genome than ever before. In addition to disease-specific genetic mutations and chromosomal aberrations, epigenetic alterations in individuals can also be analyzed using genomics. Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) caused by genetic and/or environmental factors. More than a thousand genes associated with ASD have been identified which are known to be inv… Show more
“…Recently, the heterogeneity of ASD was confirmed in a large study by Kuo et al [38] . However, genetic ASD research continues as if the role of genes in ASD is causal and not contributive [39] . Indeed, MTHFR C667T is the only variant that has been found to indicate genetic vulnerability for ASD diagnosis.…”
Section: The Chronic Dynamic Systemic Encephalopathy Frameworkmentioning
Genes have long been considered to cause autism spectrum disorder (ASD). However, data obtained over the last 10 years indicate that the true role of genetics in ASD and the cost-benefit ratio of genetic testing following an ASD diagnosis warrant further investigation. ASD is heterogeneous with high individual complexity, and new findings related to systemic alterations in ASD (in addition to genetics) should be considered when attempting to optimize patient health. However, for some people with ASD and their families, genetic testing can identify genetic mutations or chromosomic alterations. This review mainly considers recent research (the last 5 years) on the role of genetic factors in ASD and the importance of genetic testing in a new Advanced Integrative Model of ASD.
“…Recently, the heterogeneity of ASD was confirmed in a large study by Kuo et al [38] . However, genetic ASD research continues as if the role of genes in ASD is causal and not contributive [39] . Indeed, MTHFR C667T is the only variant that has been found to indicate genetic vulnerability for ASD diagnosis.…”
Section: The Chronic Dynamic Systemic Encephalopathy Frameworkmentioning
Genes have long been considered to cause autism spectrum disorder (ASD). However, data obtained over the last 10 years indicate that the true role of genetics in ASD and the cost-benefit ratio of genetic testing following an ASD diagnosis warrant further investigation. ASD is heterogeneous with high individual complexity, and new findings related to systemic alterations in ASD (in addition to genetics) should be considered when attempting to optimize patient health. However, for some people with ASD and their families, genetic testing can identify genetic mutations or chromosomic alterations. This review mainly considers recent research (the last 5 years) on the role of genetic factors in ASD and the importance of genetic testing in a new Advanced Integrative Model of ASD.
“…To date, more than 1000 genes have been associated with ASD (https://gene.sfari.org (accessed on 13 December 2022)) [10][11][12]. ASD-associated genes are involved in various processes of fetal brain development, in particular neuronal differentiation, migration, and synaptogenesis [10,13].…”
Section: Introductionmentioning
confidence: 99%
“…To date, more than 1000 genes have been associated with ASD (https://gene.sfari.org (accessed on 13 December 2022)) [10][11][12]. ASD-associated genes are involved in various processes of fetal brain development, in particular neuronal differentiation, migration, and synaptogenesis [10,13]. For instance, one of the most frequently reported ASD genes, SHANK3, is a multidomain scaffold protein involved in the regulation of the structural organization of dendritic spines [14].…”
Sexual differentiation is a major developmental process. Sex differences resulting from sexual differentiation have attracted the attention of researchers. Unraveling what contributes to and underlies sex differences will provide valuable insights into the development of neurodevelopmental disorders that exhibit sex biases. Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects an individual’s social interaction and communication abilities, and its male preponderance has been consistently reported in clinical studies. The etiology of male preponderance remains unclear, but progress has been made in studying prenatal sex hormone exposure. The present review examined studies that focused on the association between prenatal testosterone exposure and ASD development, as well as sex-specific behaviors in individuals with ASD. This review also included studies on maternal immune activation-induced developmental abnormalities that also showed striking sex differences in offspring and discussed its possible interacting roles in ASD so as to present a potential approach for future studies on sex biases in ASD.
“…Sociality and brain development are closely related (Fig. 1 ), and brain developmental disorders during the prenatal period increase the risk of postnatal neurodevelopmental and psychiatric disorders (Usui et al 2023 ; Li et al 2023 ; Doi et al 2022a , b ). Fig.…”
Section: Introductionmentioning
confidence: 99%
“…For example, the orbitofrontal cortex, anterior cingulate cortex, and amygdala mirror neuron regions have been reported to be responsible for social interaction, while the inferior frontal gyrus, superior temporal sulcus, and basal ganglia are responsible for communication (Amaral et al 2008 ; Hadjikhani et al 2006 ). Moreover, studies using animals with modifications in genes responsible for ASD have reported developmental abnormalities in various brain regions involved in social behavior (de la Torre-Ubieta et al 2016 ; Wang et al 2014 ; Tebbenkamp et al 2014 ; Doi et al 2022a , b ; Quesnel-Vallières et al 2019 ; Willsey et al 2022 ). Many genes related to human genetic risks associated with brain development and disorders, such as ASD and schizophrenia (SCZ), have been identified to understand the molecular mechanisms underlying social behavior (Doi et al 2022a , b ; Doan et al 2018 ).…”
Sociality is an instinctive property of organisms that live in relation to others and is a complex characteristic of higher order brain functions. However, the evolution of the human brain to acquire higher order brain functions, such as sociality, and the neural basis for executing these functions and their control mechanisms are largely unknown. Several studies have attempted to evaluate how human sociality was acquired during the course of evolution and the mechanisms controlling sociality from a neurodevelopment viewpoint. This review discusses these findings in the context of human brain evolution and the pathophysiology of autism spectrum disorder (ASD). Comparative genomic studies of postmortem primate brains have demonstrated human-specific regulatory mechanisms underlying higher order brain functions, providing evidence for the contribution of oligodendrocytes to human brain function. Functional analyses of the causative genes of ASD in animal models have demonstrated that the neural basis of social behavior is associated with layer 6 (L6) of the neocortex and oligodendrocytes. These findings demonstrate that both neurons and oligodendrocytes contribute to the neural basis and molecular mechanisms underlying human brain evolution and social functioning. This review provides novel insights into sociability and the corresponding neural bases of brain disorders and evolution.
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