Identified Genetic Factor Related to Autism and Schizophrenia

Researchers have identified a series of unusual genetic mutations that are expressed in both autism and schizophrenic patients, but not their unaffected parents, according to a recent study.

The study, published in the peer-reviewed scientific journal Molecular Psychiatry, details how researcher identified these genetic mutations, which appear to affect the control of epigenetic regulation, which may contribute to both schizophrenia and autism.

According to this study, in a collaboration between scientists from Cold Spring Harbor Laboratories in New York and Trinity College in Dublin, Ireland, researchers preformed genetic sequencing on more than 170 Irish citizens. Each of these participants were reported to have at least one schizophrenic family member.

Researcher were looking genetic mutations commonly shared by all the participants, hoping to identify a genetic factor that contributes to schizophrenia -- which has long been believed by researchers to be a potentially inherited condition.

However, the researcher were quickly able to identify a series of mutations that were found in a great majority of the schizophrenia patients, but were found in none of their non-schizophrenic relatives. Authors of the study said that this mutation was expressed so commonly in all the schizophrenic patients, it is "likely to have functional consequences."

Interestingly, the researchers found that the genes these mutations were happening in where genes that had already been associated with the development of autism by numerous past studies. More interestingly still, the mutations for both schizophrenia and autism appear to be affecting the genes in the same function -- chromatin modification -- that affects how other gene expression is regulated.

The researchers write that with these genes identified as problem areas, it is possible that future work can determine ways to prevent or mitigate the adverse effects of mutations in these genes.

The study was published in Molecular Psychiatry, a Nature publication, on April 29.