| Abstract |
精神分裂症is a debilitating psychiatric disorder, affecting approximately 1% of the human population. Mostly genetic factors contribute to精神分裂症, but the genetics are complex and various aspects of brain functioning and structure, from development to synapse plasticity, seem to be involved in the pathogenesis. The goal of the study was to look for novel mutations in genes, implicated in molecular networks, important in精神分裂症. In the study four candidate genes taking part in the WNT signaling pathway were analyzed by sequencing in a cohort of 87精神分裂症patients from Saint Petersburg, Russia. The gene list included CTNNB1 (beta-catenin), GSK3B, WNT2B andWNT7B. The impact of discovered variants on the protein function was analyzed in silico. We found three variants in the genes CTNNB1 andWNT7B, absent in healthy controls, including 212 controls from the same geographic area. The novel mutation c.1943A>G (p.N648S) in CTNNB1 seems to be the best candidate for disease-associated mutation in this study, as it damages the protein product in silico. This is the first study reporting mutations in CTNNB1 in精神分裂症. |