Our efforts to develop better medications for schizophrenia have been stymied by our inability to uncover the condition’s source. Researchers already knew that genes and the immune system are involved in the disorder but could not say how. Now a groundbreaking study seems to have solved the mystery.
Researchers at Boston’s Broad Institute analyzed one of the largest repositories of schizophrenia DNA samples and found that a mutation in the C4 gene is strongly correlated with the disease. This mutation causes the production of too much C4A protein, which regulates the pruning of synapses by a process that is also shared by the immune system in fighting pathogens and eliminating waste. This finding links a gene with a long-observed disease-causing process.
“That was like bingo—you found the genetic key that explains all these historic observations in people with schizophrenia,” says Jeffrey Lieberman, MD, professor and chair of the department of psychiatry at Columbia University.
The likely next frontier: development of new treatment strategies that seek to modulate the C4 gene.
Read about what it’s actually like to have schizophrenia.