Discovery will aid diagnosis and development of treatments.
Scientists at the Montreal Neurological Institute and Hospital (The Neuro) and McGill University have identified novel genes associated with a specific form of schizophrenia.
Schizophrenia is a major psychiatric illness affecting one per cent of the population worldwide. Patients suffering from schizophrenia present delusions, hallucinations, abnormal behavior, impairment in daily life and cognitive deficits. Current treatments are insufficient in addressing all of these symptoms.
The heritability of schizophrenia is estimated at 80 per cent, but the identification of genes associated with this illness has been challenging.
A team of researchers recruited and analyzed genetic data from 19 patients with childhood-onset schizophrenia and their unaffected parents. They found that three patients showed a mutation in the ATP1A3 gene while three others showed genetic variants in the FXYD genes, a gene family that contributes to the normal functions of ATP1A3. Mutations affecting ATP1A3 were previously reported in other rare neurological childhood diseases, confirming it has an important role in neurological diseases. This study provides evidence that this gene is also involved in psychiatric disorders.
The identification of genetic variants is the first step forward in efforts to treat childhood-onset schizophrenia. The immediate impact will be to enable diagnosis of patients and provide genetic information to the families. In the future, personalized therapies may follow and some drug interventions might become available for carriers of ATP1A3 mutations.
This work was funded by Genome Canada and Genome Quebec and supported by the Canadian Institutes for Health Research (CIHR) and the Healthy Brain for Healthy Lives – McGill University initiative.