Schizophrenia and Autism may Share Genetic Mutations

Posted on: 29 April 2014

Researchers from the School of Medicine in Trinity College Dublin and Cold Spring Harbor Laboratories (CSHL) in the US have identified a novel mechanism which may underlie susceptibility to schizophrenia and autism. The work, published in the international journal Molecular Psychiatry identified mutations in a set of genes that control epigenetic regulation as contributing to both schizophrenia and autism susceptibility. Epigenetic regulation is a process whereby experience and environment orchestrate the function of genes and is critical in how the brain develops and responds to experience throughout life.

In an ongoing collaboration between Trinity College and CSHL, the team performed genetic sequencing analysis on 171 Irish individuals from families where at least one member was affected with schizophrenia. All of the research was carried out on Irish families while the sequencing was performed at CSHL and data was jointly interpreted. By analysis they identified new genetic mutations (de novo mutations) present in cases but absent in their unaffected parents.

First author, Shane McCarthy (CSHL) said: "We found that these types of mutations occurred more common than expected in people with schizophrenia and are likely to have functional consequences."

By looking at which genes were being implicated the authors found many to be part of an epigenetic mechanism that regulates gene expression, called chromatin remodeling. This mechanism has been thought to be involved in some cases of autism and the authors went on to show that the genes implicated in schizophrenia were also implicated in autism and intellectual disability.

Trinity Professor in Psychiatry, Aiden Corvin, Senior Author of the study said: "This is a really exciting finding as it suggests that neurodevelopmental disorders such as schizophrenia and autism, which hitherto have been seen as different diseases may involve common underlying disease mechanisms. This may have implications in the future for how we conceptualize and treat these conditions."

Professor Aiden Corvin is a Science Foundation Ireland Principal Investigator and Head of the Psychosis Research Group at Trinity College Dublin.

The paper is available here.