Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.Gulsuner S, Walsh T, Watts AC, Lee MK, Thornton AM, Casadei S, Rippey C, Shahin H, Nimgaonkar VL, Go RC, Savage RM, Swerdlow NR, Gur RE, Braff DL, King MC, McClellan JM. Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell . 2013 Aug 1 ; 154(3):518-29.
The importance of this paper is that it expands upon the neurodevelopmental hypothesis of schizophrenia and the genetic knowledge base related to brain development processes. While it is well established that schizophrenia and other major mental disorders are heritable, or run in families, this study underscores that only a portion of this genetic influence is familial. Another important portion may be new or non-familial gene mutations that affect brain development, or so called de novo mutations. That is, mutations that can occur by chance as a part of the gene transcription process during early brain development. Gene transcription is complex and may sometimes results in minor transcription errors, some of which can result in abnormal brain development. Readers of this article can gain a better understanding of how brain development occurs in individuals with schizophrenia, even those born to otherwise healthy families. For the psychiatric community this publication adds to the understanding of schizophrenia as a genetically multi-determined brain disorder. It helps explain how rare gene mutations can contribute to the development of critical brain regions in affected individuals.