Genetic basis and appearance of the first symptoms of schizophrenia

What has been discovered in a recent investigation will make it possible to act against schizophrenia from the beginning of the disease and improve the quality of life of people who suffer from it.

The study is the work of a team from the Rovira i Virgili University (URV) in Tarragona, the Pere Virgili Health Research Institute (IISPV, which is one of the CERCA institutions of the Generalitat of Catalonia) and the Pere Mata Institute University Hospital in Reus, with the collaboration of the Mental Health Network Biomedical Research Center (CIBERSAM), in Spain.

Ester Sada-Fuente (URV) and her colleagues have determined that a person’s genetic base plays an important role in the appearance of the first symptoms of schizophrenia. This finding is crucial to combat schizophrenia, since if it is possible to predict at what age the first symptoms will begin to appear, it will be possible to intervene before they appear and this will improve the quality of life of people who suffer from the disease.

To carry out the study, its authors analyzed the entire human genome, and this has allowed them to discover the role played by a person’s genetic load in the manifestation of the first symptoms of schizophrenia (in late adolescence or at the beginning of adulthood, usually). They have found that between 17 and 21% of the factors that contribute to its appearance are genetically based. The other aspects that influence are environmental. It was already known from previous studies that these two dimensions are the ones that play an important role in the age of onset of the first symptoms, although genetics was the least studied until now.

The researchers have also concluded that the same genetic load associated with the age of onset of schizophrenia also plays an important role in the case of people with Attention Deficit Hyperactivity Disorder (ADHD) or who have suffered abuse in childhood.

A professional from the Hospital Instituto Pere Mata attending to a patient. (Photo: Pere Mata Institute Hospital)

On the other hand, the role of copy number variants, which are segments of the DNA of our genome that are repeated several times, has been examined. It has been observed that there is a relationship between the number of these copies and the age of onset of schizophrenia: “Individuals with more affected regions throughout the genome tend to have an earlier age of onset of the disease”, explains Gerard Muntané, a researcher at the IISPV and a professor at the URV, who has participated in the study.

These discoveries will be a good starting point for future studies aimed at improving the diagnosis and treatment of the disease.

The study is titled “Common genetic variants contribute to heritability of age at onset of schizophrenia”. And it has been published in the academic journal Translational Psychiatry. (Source: URV)