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To identify genes involved in the pathogenesis of schizophrenia and responsible for its high heritability. 

Concentrating on non-familial cases of the disease, the researchers sequenced the exomes of 14 schizophrenia patients and their parents. Sequence reads from the patients were compared with that of their parents and control samples. Potentially causative structural variants were excluded using a copy number variant targeted array.

The sequencing and analysis resulted in identification of 73 putative variants, which were then verified by direct PCR amplification and Sanger sequencing in the patients and their respective parents. This validation study confirmed 15 variations to be genuine de novo mutations (DNMs). None of those DNMs was reported in the latest release of the 1000 Genomes Project. The 15 DNMs were identified in 8 of the 14 schizophrenia patients. No causative structural variants were identified.

None of the 15 identified DNMs has been previously reported to be associated with schizophrenia. The rate of de novo mutations reported in this study is significantly higher than the normal DNM rate established from the 1000 Genomes Project data. This new study suggests that DNMs might contribute to the pathogenesis of schizophrenia, explaining at least partly the missing genetic causes of the disease. It also provides a list of new candidate genes to be screened for in schizophrenia patients.

These new results contribute to the understanding of the high worldwide incidence of schizophrenia. The identification of new candidate genes involved in the pathogenesis of the disease will not only allow to learn more about some of the biological pathways that are altered in schizophrenia but also about brain development and function in general .