Nagoya University · Medicine
Professor Norio Ozaki's research lab focuses on the genetic and molecular mechanisms underlying neuropsychiatric disorders, particularly autism spectrum disorder (ASD) and schizophrenia (SCZ). The lab investigates the role of copy-number variations (CNVs) and functional polymorphisms in genes such as the serotonin 5-HT2A receptor to understand their contributions to neurobehavioral variation and disease susceptibility. Using population-based genetic analyses and cellular functional assays, the lab aims to identify shared biological pathways and clinically relevant genetic variants. Their work bridges population genetics with neuropharmacology to uncover novel insights into the pathophysiology of mental disorders.
Figures are computed from collected data and may differ slightly.
Compelling evidence in Caucasian populations suggests a role for copy-number variations (CNVs) in autism spectrum disorder (ASD) and schizophrenia (SCZ). We analyzed 1,108 ASD cases, 2,458 SCZ cases, and 2,095 controls in a Japanese population and confirmed an increased burden of rare exonic CNVs in both disorders. Clinically significant (or pathogenic) CNVs, including those at 29 loci common to both disorders, were found in about 8% of ASD and SCZ cases, which was significantly higher than in c
Recently, two naturally occurring amino acid substitutions were identified in the C-terminal region of the serotonin 5-HT2A receptor. One of these, His452Tyr, has a rarer allele Tyr frequency of 9%. If 452Tyr alters 5-HT2A function, it would thus be a candidate allele for human neurobehavioral variation. The present study was designed to evaluate the potential influence of the 452His and 452Tyr alleles on cellular 5-HT2A functions. Platelet 5-HT2A binding and 5-HT-induced Ca2+ response were comp
Open papers in the app to read, cite, and organize with AI.
