AUTHOR=Yang Xiaolei , Li Lin , Chai Xuejiao , Liu Jicheng 

TITLE=The association between ST8SIA2 gene and behavioral phenotypes in children with autism spectrum disorder

JOURNAL=Frontiers in Behavioral Neuroscience

VOLUME=16

YEAR=2022

URL=https://www.frontiersin.org/journals/behavioral-neuroscience/articles/10.3389/fnbeh.2022.929878

DOI=10.3389/fnbeh.2022.929878

ISSN=1662-5153

ABSTRACT=<sec><title>Objective</title><p>ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (<italic>ST8SIA2</italic>) encodes a type II membrane protein that is thought to catalyze the transfer of sialic acid (SA) from CMP-SA to N-linked oligosaccharides and glycoproteins. Some population and animal studies have indicated an association between the <italic>ST8SIA2</italic> gene and autism spectrum disorder (ASD). However, there is limited information on the correlation between <italic>ST8SIA2</italic> and autistic behavioral symptoms.</p></sec><sec><title>Methods</title><p>In this study, 69 ASD and 76 normal control children who were age- and sex-matched were recruited. <italic>ST8SIA2</italic> expression and methylation levels were measured by reverse transcription quantitative real-time PCR and pyrosequencing, respectively, and the behavioral phenotypes of ASD children were assessed.</p></sec><sec><title>Results</title><p>The ASD group had lower <italic>ST8SIA2</italic> gene expression levels than the control group [<italic>t</italic><sub>(0.05/2,143)</sub> = 2.582, <italic>p</italic> = 0.011]. Moreover, <italic>ST8SIA2</italic> expression levels were positively correlated with daily life skills (<italic>r<sub><italic>s</italic></sub></italic> = 0.381, <italic>p</italic> = 0.008) and negatively associated with stereotyped behaviors in the ASD group (<italic>r<sub><italic>s</italic></sub></italic> = -0.510, <italic>p</italic> = 0.004). The methylation levels of the Chr. 15: 92984625 and Chr. 15: 92998561 sites of the <italic>ST8SIA2</italic> gene in ASD children were higher than those of controls. The Chr. 15: 92984625 site was positively correlated with the stereotyped behaviors of ASD children (<italic>r<sub><italic>s</italic></sub></italic> = 0.41, <italic>p</italic> = 0.039).</p></sec><sec><title>Conclusion</title><p>This study provides a scientific basis to elucidate the relationship between the <italic>ST8SIA2</italic> gene and behavioral phenotypes of ASD.</p></sec>