Schizophrenia may begin developing in the womb, a new study is now suggesting after discovering an abnormal genetic process linked to the disease.
Michal K. Stachowiak, Ph.D., of the Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo in New York, and colleagues sought to learn more about the genomic processes that occur in utero that might influence the risk of schizophrenia development. By transforming skin cells taken from patients with schizophrenia into neuronal progenitor cells (cells that form neurons in early development), researchers have identified an abnormal gene pathway called nuclear FGFR1 (nFGFR1) that impairs early brain development.
Schizophrenia’s exact causes are still unclear, but researchers have known that the genetic disorder runs in families and can be passed down. According to the National Institute of Mental Health, around 1.1 percent of adults in the US have the disease, which is characterized by hallucinations, delusions and abnormal thoughts.
To reach their findings, the researchers collected skin cells from four adults with schizophrenia and four adults without the disorder. Reprogramming these skin cells into induced pluripotent stem cells, they were then differentiated into neuronal progenitor cells. This allowed the team to assess the processes that occur during early brain development in people with schizophrenia.
The researchers found a dysregulated nFGFR1 pathway that targets and mutates numerous genes associated with schizophrenia. The team explained that just one of these gene mutations can affect brain development. According to Stachowiak, “In the last 10 years, genetic investigations into schizophrenia have been plagued by an ever-increasing number of mutations found in patients with the disease. We show for the first time that there is, indeed, a common, dysregulated gene pathway at work here.”
The team further discussed that these findings offer new potential schizophrenia treatments, for example, administering a drug to expecting mothers at higher risk of the condition.
In other studies, researchers are planning to grow “mini-brains” utilizing the same processes used in the current study. Their goal is to gain deeper understanding of how dysregulation of the nFGFR1 pathway influences early brain development, as well as provide a model to test possible treatments.
The neuroscience of humor: why some people are funny and others aren’t