The exact causes of schizophrenia are still unknown, but now, a team of researchers from the Johns Hopkins School of Medicine in Baltimore (USA), claim to have discovered how a genetic variation related to schizophrenia influences the development of brain cells . The study has been published in the journal Cell Stem Cell .
This disorder, which can cause hallucinations, delusions, dysfunctional thoughts, or repetitive and restless body movements, affects an estimated 24 million people worldwide .
The researchers wanted to find out if there was some type of genetic cause that increased the risk of schizophrenia, despite being aware that there is no genetic mutation that predisposes people to suffer from it. To do this, they conducted an experiment with mice to study one of the variations in the genome called 15q11.2 using skin cells from people with schizophrenia who were missing a part of 15q11.2 on one of their chromosomes.
“Using pluripotent stem cells induced from people with schizophrenia allowed us to see how these genes affected brain development,” says Hongjun Song, a co-author of the study.
After altering the genomes of neuronal progenitors in mouse embryos, they produced less of the CYFIP1 protein, discovering then that rodent brain cells showed defects similar to those of human cells . The researchers concluded that the reason this happens is that this protein plays a crucial role in the construction of this skeleton that shapes each cell and its loss affects the junction nodes where the skeletons of two neighboring cells connect.
“This is an important step in understanding what happens physically in brain development that puts people at risk for schizophrenia,” explains Guo-li Ming, leader of the study.
