The development of autism spectrum disorder (ASD) is thought to be associated with abnormalities in neuronal development, such as axon elongation, synapse formation, and pruning, during the embryonic and early postnatal period. Approximately 1,000 ASD risk genes have been reported from molecular genetic studies conducted to date. Among them, there are many ASD risk genes with reproducibility and strong evidence, such as NLGN3, SHANK3, and CHD8. Clinical trials of Rapamycin and IGF-1, which have been shown to be effective in animal studies of such ASD risk genes with strong evidence, have been conducted with undesirable results. The main reason for this may be the biological heterogeneity at the genetic level in the ASD patient population. To resolve this heterogeneity problem, it is necessary to identify changes at each hierarchical level phenotypes (proteins, cells, brain regions, brain circuits, cognitions, and behaviors) of risk gene mutations for ASD.
As mentioned above, it is necessary to identify changes at each hierarchical level phenotypes of risk gene mutations for ASD. Furthermore, genetic variants that show a common phenotype somewhere in the hierarchy should be grouped as ASD risk genes with a common biological basis, and therapeutics should be developed for the ASD patient population with those in the same group. In addition, as genes to be treated, genes that are suggested to be associated with cognitive and behavioral phenotypes measured with a common index from rodents to humans are considered desirable. One such example is CNTN5, which is associated with the auditory abnormalities of ASD. This symptom is detectable by ABR and other tests that can be tried on rodents and humans alike. The goals of this Research Topic are to gather knowledge on recent research on ASD risk genes’ effects on each hierarchical level phenotype, to clarify the neurodevelopmental effects of ASD risk gene mutations, and to identify novel therapeutic drug candidates that ameliorate these changes.
This Research Topic article collection welcomes any types of manuscripts supported by Frontiers in Neurology, pertaining but not limited to the following themes:
- Identifying for ASD risk gene mutations
- Functional analysis of ASD risk gene mutations at the protein level
- Functional analysis of ASD risk gene mutations at the cellular level
- Functional analysis of ASD risk gene mutations at the brain region level
- Functional analysis of ASD risk gene mutations at the brain circuit level
- Functional analysis of ASD risk gene mutations at the individual cognition and behavior level
The development of autism spectrum disorder (ASD) is thought to be associated with abnormalities in neuronal development, such as axon elongation, synapse formation, and pruning, during the embryonic and early postnatal period. Approximately 1,000 ASD risk genes have been reported from molecular genetic studies conducted to date. Among them, there are many ASD risk genes with reproducibility and strong evidence, such as NLGN3, SHANK3, and CHD8. Clinical trials of Rapamycin and IGF-1, which have been shown to be effective in animal studies of such ASD risk genes with strong evidence, have been conducted with undesirable results. The main reason for this may be the biological heterogeneity at the genetic level in the ASD patient population. To resolve this heterogeneity problem, it is necessary to identify changes at each hierarchical level phenotypes (proteins, cells, brain regions, brain circuits, cognitions, and behaviors) of risk gene mutations for ASD.
As mentioned above, it is necessary to identify changes at each hierarchical level phenotypes of risk gene mutations for ASD. Furthermore, genetic variants that show a common phenotype somewhere in the hierarchy should be grouped as ASD risk genes with a common biological basis, and therapeutics should be developed for the ASD patient population with those in the same group. In addition, as genes to be treated, genes that are suggested to be associated with cognitive and behavioral phenotypes measured with a common index from rodents to humans are considered desirable. One such example is CNTN5, which is associated with the auditory abnormalities of ASD. This symptom is detectable by ABR and other tests that can be tried on rodents and humans alike. The goals of this Research Topic are to gather knowledge on recent research on ASD risk genes’ effects on each hierarchical level phenotype, to clarify the neurodevelopmental effects of ASD risk gene mutations, and to identify novel therapeutic drug candidates that ameliorate these changes.
This Research Topic article collection welcomes any types of manuscripts supported by Frontiers in Neurology, pertaining but not limited to the following themes:
- Identifying for ASD risk gene mutations
- Functional analysis of ASD risk gene mutations at the protein level
- Functional analysis of ASD risk gene mutations at the cellular level
- Functional analysis of ASD risk gene mutations at the brain region level
- Functional analysis of ASD risk gene mutations at the brain circuit level
- Functional analysis of ASD risk gene mutations at the individual cognition and behavior level
