File: PIIS0896627321001525.pdf (1.91 MB, PDF)

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Study of Ashkenazi Jewish Population Reveals New Schizophrenia Mutation
https://www.cell.com/neuron/fulltext/S0896-6273(21)00152-5

Researchers at The Feinstein Institutes for Medical Research, in collaboration with Columbia University, have identified a gene mutation that could result in schizophrenia, a chronic brain disorder that affects less than one percent of the world’s population, but 40% of the ashkenazi jewish population. The findings, published in the journal Neuron, could lead to novel treatment strategies.

The research team, led by Todd Lencz, PhD, with Itsik Pe’er, PhD, Tom Maniatis, PhD, and Erin Flaherty, PhD, of Columbia University, carried out an innovative genetic study identifying a single letter change in the DNA code in a gene called PCDHA3 that is associated with schizophrenia. The affected gene makes a type of protein called a protocadherin, which generates a cell surface “barcode” required for neurons to recognize, and communicate with, other neurons. They found that the PCDHA3 variant blocks this normal protocadherin function.

Past research has shown that genes play an important role in the disorder, but it has proven difficult to isolate individual genes that contribute substantial effects. These results indicate that further investigation into restoring communication between neurons could be a critical step in developing novel treatment options for schizophrenia.