“Patients with clinically important CNVs showed a range of characteristics, such as developmental problems and refusal to accept treatment,” first author Itaru Kushima says. “And, the presence of two CNVs resulted in a more severe phenotype.”
The researchers looked closely at the genetic regions containing CNVs to identify several gene categories associated with schizophrenia that may be affected by genetic disturbance. These include oxidative stress response, which leads to DNA damage when imbalanced, and genomic integrity, involving DNA repair and replication.
“We propose that CNVs affecting oxidative stress response and genomic integrity lead to genomic instability that may cause further CNVs”, corresponding author Norio Ozaki says. “This model helps explain the new CNVs seen in previous studies on schizophrenia, as well as the differences in affected patients’ phenotypes.”