An international team of researchers, including NARSAD Grantee, Nelson Freimer, M.D., from the University of California at Los Angeles (UCLA) has made two discoveries related to schizophrenia. First, they found a rare gene mutation that increases a person’s susceptibility to developing schizophrenia. Second, they uncovered a previously unknown link between schizophrenia and Fragile X syndrome. The results of this work were published August 4th in the online edition of Nature Neuroscience.
Focusing their research on a unique population in northeastern Finland, a community that has lived in relative isolation for hundreds of years, the scientists were able to sift through genomic data for mutations or inconsistencies. This population has three times the frequency of schizophrenia compared to the rest of Finland and a higher rate of intellectual impairment. They found a rare genetic deletion affecting a gene known as TOP3B that increases a person’s likelihood of developing schizophrenia. The next step was trying to understand why this genetic deletion had this profound effect. They discovered that the protein encoded by TOP3B interacts with another protein called FMRP. Past research has shown that the disruption of FMRP is responsible for Fragile X syndrome, which is the most commonly known genetic cause of autism.
"What is interesting about this study is that through investigations in an isolated corner of Finland, we are contributing to concerted international efforts that are beginning to unravel the genetic root of schizophrenia, a debilitating disorder that affects so many people throughout the world,” explains Dr. Freimer. “Potentially, this may someday lead to new drug targets against these disorders."