Research finds schizophrenia is the manifestation of eight genetic mutations
New findings about the genetic variables that cause schizophrenia.
Scientists have identified a total of 42 groups of genetic variations that increase the risk of developing schizophrenia.. Contradicting the official position until yesterday, schizophrenia appears not to be a single disease, but a group of eight disorders of different genetic nature, each with its own distinct symptomatological picture.
Schizophrenia: new evidence points to its cause
It is known that 80% of the risk of schizophrenia is determined by genetic inheritance, but researchers have not been able to discern the genes that cause this condition.
The latest study at the Washington University School of Medicine in St Louis surveyed the genetic influences of more than 4,000 people with schizophrenia and found distinct gene clusters that cause up to eight different forms of schizophrenia.
According to C. Robert Cloninger,
"Genes do not act on their own, but operate like a musical orchestra; to understand how they work, it is necessary to know not only the individual members of the orchestra but how they interact."
More aggressive as a group than individually
Dr. Cloninger and his research team matched some specific variations of genetic material in people with schizophrenia and healthy people. In some patients suffering from hallucinations or delusions, scientists investigated the genetic characteristics and matched them with the symptomatology of each of them, discovering that specific genetic alterations interact with each other, resulting in a 95% chance of schizophrenia.. Each of the eight genetically distinct disorders has its own set of symptoms.
In another group of subjects, it was revealed that disorganized language is linked to a cluster of DNA alterations that results in a 100% chance of developing schizophrenia.
Although individual genes are only weakly linked to the development of schizophrenia, some gene sets interact with each other to generate a high risk of schizophrenia, between 70 and 100%, according to the study.
This data reinforces the idea that it is difficult for people suffering from these genetic alterations to avoid developing the disease. In total, the study found up to 42 groups of genetic alterations that increase the risk of schizophrenia.
New approach
"In previous research, scientists have tried to find associations between individual genes and schizophrenia," reports Dragan Svrakic, co-author of the study and professor of psychiatry at the University of Washington. "Several studies identified an association and it was hardly refutable. The next logical step in schizophrenia research was to prove that genes do not act in isolation, but operate together to alter brain structure and function, causing the disease," he concludes.
Svrakic argued that it was only when the researchers were able to categorize the genetic alterations and symptomatology of the patients into groups.In their study, they found that particular clusters of genetic variations act together to cause specific types of symptoms.
The researchers separated the patients according to the type and intensity of their symptoms, such as problems organizing ideas and thoughts, lack of initiative, or disconnection between emotion and thought.
The results indicated that the symptomatological profiles are the product of eight qualitatively distinct disorders, which in turn are the result of particular genetic conditions. The researchers said that these new findings could change the approach to understanding the genetic or acquired causes of other complex non-psychiatric disorders.
Experts are hopeful that these results may lead the way to improved diagnosis and treatment of schizophrenia.
(Updated at Apr 13 / 2024)