作者
Magdalena Meyer, Benjamin Jurek, Mercedes Alfonso-Prieto, Rui Ribeiro, Vladimir M Milenkovic, Julia Winter, Petra Hoffmann, Christian H Wetzel, Alejandro Giorgetti, Paolo Carloni, Inga D Neumann
发表日期
2022/2
期刊
Molecular psychiatry
卷号
27
期号
2
页码范围
907-917
出版商
Nature Publishing Group UK
简介
Various single nucleotide polymorphisms (SNPs) in the oxytocin receptor (OXTR) gene have been associated with behavioral traits, autism spectrum disorder (ASD) and other diseases. The non-synonymous SNP rs4686302 results in the OXTR variant A218T and has been linked to core characteristics of ASD, trait empathy and preterm birth. However, the molecular and intracellular mechanisms underlying those associations are still elusive. Here, we uncovered the molecular and intracellular consequences of this mutation that may affect the psychological or behavioral outcome of oxytocin (OXT)-treatment regimens in clinical studies, and provide a mechanistic explanation for an altered receptor function. We created two monoclonal HEK293 cell lines, stably expressing either the wild-type or A218T OXTR. We detected an increased OXTR protein stability, accompanied by a shift in Ca2+ dynamics and reduced …
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