New Study Looks At Rare Mutation Found In Families Experiencing Schizophrenia, Mood Disorders, And Autism

A new study published in Genomic Psychiatry looked at multiplex Portuguese families as a lens into rare mutations and the shared genetic architecture of schizophrenia, mood disorders, and autism spectrum disorders. A multiplex family is a family where two or more members are diagnosed with the same complex genetic disorder.

“We have been studying serious mental illness for 35 years,” study author Carlos Pato told us. “We were hoping to define the biologic mechanism, as well as the environmental factors that contribute to these illnesses and help discover treatments that correct the underlying problems.”

The research team approached these studies expecting that there were a number of contributing factors and that their diagnostic classifications may represent groups of illnesses rather than a single problem.

“My wife, Michele Tortora Pato and I, were drawn by the suffering of the patients we treated and their families and by how most of the known treatments are designed to relieve symptoms,” told us. “We hoped to improve our understanding by partnering with the field as a team effort to discover new approaches.”

The researchers tried to partner with their colleagues and with families to understand how genetic and other factors contribute to the illnesses they suffer and hopefully to understand the factors that may help them.

“We have begun to find that families like these represent a rare group of patients that have an extremely rare mutation that may have a large effect,” told us. “The members of a family may share such a mutation and yet present a range of illnesses that mutation is associated with or appear to be unaffected. In this paper, we present findings about the range of diagnoses found in these families and an example of a family that carries this type of mutation and many of the relatives suffer very serious mental illness. Discovering something new is a welcome surprise because it may help clarify a path to discovery and potential treatments.”

The research team believes that the work moving forward will depend on the field as a whole bringing together findings from large scale cohort studies like their own Genomic Psychiatry Cohort with tens of thousands of patients participating and these types of unique families.  

“We intend to study the genomes of the remaining families and use cellular modeling to begin to understand the alterations in function,” told us. “This work may lead to new treatments and clearer diagnoses to use in treatment.”