Genetic Studies of Schizophrenia

Abstract

Autism has long been thought to stem from abnormal neurodevelopment. Surprisingly, microarray-based genome-wide expression studies, involving either postmortem brain tissue or lymphoblastoid cell lines, provide converging evidence supporting prominent roles for the immune system in the pathogenesis of autism-spectrum disorders (ASDs). In particular, bioinformatic analyses, employing biological databases and gene network prediction software, point toward the involvement of multiple genes interconnected in immune-related pathways. Taken together, these findings suggest that a dysreactive immune process could derange neurodevelopment during critical periods in a large subset of children with autism. These conclusions are also supported by neuropathological and immunological studies, which are briefly summarized. Genome-wide expression studies can thus lead to a better understanding of autism pathogenesis and facilitate the identification of subgroups of patients with a similar underlying pathophysiology endophenotypes eventually leading to more effective therapeutic strategies. The characterization of peripheral gene-expression patterns and immunological abnormalities can also contribute to design laboratory-based diagnostic tools for the early detection of ASDs.