Researchers Link the SHANK3 Gene to Schizophrenia

An international study, led by University of Montreal researchers Julie Gauthier and Guy Rouleau, reveals that gene mutations in the SHANK3 gene may predispose individuals to schizophrenia.

Julie Gauthier and Guy Rouleau, reveals that gene mutations in the SHANK3 gene may predispose individuals to schizophrenia.

SHANK3 is also a protein that is involved in maintaining the physical structure of nerve cells; mutations in this gene result in misshapen cells. Such deformations have been seen in patients with schizophrenia, which according to Gauthier and Rouleau, “provides further evidence of the importance of the SHANK3 gene in this disorder.”

Two de novo mutations (R1117X and R536W) were identified in two families, one being found in three affected brothers, suggesting germline mosaicism. Zebrafish and rat hippocampal neuron assays revealed behavior and differentiation defects resulting from the R1117X mutant.”

In the article published in the Proceedings of the National Academy of the Sciences (PNAS), the researchers note, “

PNAS

paper, explained that the SHANK3 gene has also been linked to autism. This information, along with the results of the new study that tie the gene to schizophrenia, suggests “a link between these two neurodevelopmental disorders” and that “SHANK3 may have a role in other brain diseases.”

Gauthier, a researcher at the university and lead author of the

According to Rouleau, the results of the new study are the first to successfully investigate the role of the SHANK3 gene in schizophrenia.

“That these de novo, or new, mutations occur in schizophrenia is rather unexpected and may explain why the identification of the genes linked to this disease has been so difficult,” he said. “Our findings show that a significant number of schizophrenia cases are the result of new genetic mutations in the SHANK3 gene. Where previous approaches have failed, our detailed analyses and rich patient database led us to this discovery. We are convinced that future studies will validate the SHANK3 gene as a marker for schizophrenia.”

An international study, led by University of Montreal researchers