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<bold>Objectives.</bold> The balance between DNA methylation and demethylation is crucial for the brain development. Therefore, alterations in the expression of enzymes controlling DNA methylation patterns may contribute to the etiology of neurodevelopmental disorders, including autism. SH3 and multiple ankyrin repeat domains 3 (<italic>Shank3</italic>)-deficient mice are commonly used as a well-characterized transgenic model to investigate the molecular mechanisms of autistic symptoms. DNA methyltransferases (DNMTs), which modulate several cellular processes in neurodevelopment, are implicated in the pathophysiology of autism. In this study, we aimed to describe the gene expression changes of major <italic>Dnmts</italic> in the brain of <italic>Shank3</italic>-deficient mice during early development.
<bold>Methods and Results.</bold> The <italic>Dnmts</italic> gene expression was analyzed by qPCR in 5-day-old homo-zygous <italic>Shank3</italic>-deficient mice. We found significantly lower <italic>Dnmt1</italic> and <italic>Dnmt3b</italic> gene expression levels in the frontal cortex. However, no such changes were observed in the hippocampus. However, significant increase was observed in the expression of <italic>Dnmt3a</italic> and <italic>Dnmt3b</italic> genes in the hypothalamus of <italic>Shank3</italic>-deficient mice.
<bold>Conclusions.</bold> The present data indicate that abnormalities in the <italic>Shank3</italic> gene are accompanied by an altered expression of DNA methylation enzymes in the early brain development stages, therefore, specific epigenetic control mechanisms in autism-relevant models should be more extensively investigated.
</abstract>

Objectives. The balance between DNA methylation and demethylation is crucial for the brain development. Therefore, alterations in the expression of enzymes controlling DNA methylation patterns may contribute to the etiology of neurodevelopmental disorders, including autism. SH3 and multiple ankyrin repeat domains 3 (Shank3)-deficient mice are commonly used as a well-characterized transgenic model to investigate the molecular mechanisms of autistic symptoms. DNA methyltransferases (DNMTs), which modulate several cellular processes in neurodevelopment, are implicated in the pathophysiology of autism. In this study, we aimed to describe the gene expression changes of major Dnmts in the brain of Shank3-deficient mice during early development.
Methods and Results. The Dnmts gene expression was analyzed by qPCR in 5-day-old homo-zygous Shank3-deficient mice. We found significantly lower Dnmt1 and Dnmt3b gene expression levels in the frontal cortex. However, no such changes were observed in the hippocampus. However, significant increase was observed in the expression of Dnmt3a and Dnmt3b genes in the hypothalamus of Shank3-deficient mice.
Conclusions. The present data indicate that abnormalities in the Shank3 gene are accompanied by an altered expression of DNA methylation enzymes in the early brain development stages, therefore, specific epigenetic control mechanisms in autism-relevant models should be more extensively investigated.

Gene expression levels of DNA methyltransferase enzymes in <italic>Shank3</italic>-deficient mouse model of autism during early development

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Gene expression levels of DNA methyltransferase enzymes in -deficient mouse model of autism during early development

Objectives. The balance between DNA methylation and demethylation is crucial for the brain development. Therefore, alterations in the expression of enzymes...

Gene expression levels of DNA methyltransferase enzymes in Shank3-deficient mouse model of autism during early development

Published Online: Dec 07, 2021

Page range: 234 - 237

DOI: https://doi.org/10.2478/enr-2021-0025

Keywords
epigenetic mechanisms, methylation, autism, Shank3

© 2021 Annamaria Srancikova et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Gene expression levels of DNA methyltransferase enzymes in Shank3-deficient mouse model of autism during early development

Published Online: Dec 07, 2021

Page range: 234 - 237

DOI: https://doi.org/10.2478/enr-2021-0025

Keywordsepigenetic mechanisms, methylation, autism, Shank3

© 2021 Annamaria Srancikova et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Keywords
epigenetic mechanisms, methylation, autism, Shank3