The PCDHA3 Gene Mutation and Schizophrenia

A recent study led by researchers at Columbia University in conjunction with scientists at The Feinstein Institutes for Medical Research in New York concludes that a mutation in the PCDHA3 gene is the catalyst for schizophrenia. The groundbreaking study, led by PhDs Todd Lencz, Itsik Pe’er, Tom Mantiatis, and Erin Flaherty was conducted with both healthy volunteers and patients with schizophrenia among the Ashkenazi Jewish population. This community was the best source to draw data from, as a tradition of interethnic marriage over time creates a more similar genetic background, which makes it easier to identify disease-related variants.

As defined by the American Psychiatric Association, schizophrenia is “... a chronic brain disorder that affects less than one percent of the U.S. population. When schizophrenia is active, symptoms can include delusions, hallucinations, disorganized speech, trouble with thinking and lack of motivation.” A mutation regarding the PCHA3 gene affects the protein protocadherin, which generates a coding for neurons to communicate with other neurons. This makes sense as if neurons are not able to relay and perceive information, schizophrenic symptoms will occur.

The research conducted offers an advance in the ongoing effort for more effective schizophrenia treatments. Current treatment can improve symptoms greatly, but now understanding the genetics behind the disorder will augment the development of gene therapy and remedies for schizophrenics.

Works Cited

Sterling, John. “New Genetic Mutation Discovered in People with Schizophrenia.” GEN, 23 Mar. 2021, www.genengnews.com/news/new-genetic-mutation-discovered-in-people-with-

schizophrenia/.

What Is Schizophrenia?, www.psychiatry.org/patients-families/schizophrenia/what-is-

schizophrenia.