Washington: Since April 2 is the first-ever World Autism Awareness Day, a new study has shown that people with schizophrenia have rare variations in genes that control brain development and that each person has a unique pattern of mutations; the result is stunningly similar to new research on autism. The new study has found that rare and previously undetectable genetic variations may significantly increase the risk that a person will develop schizophrenia.
The study, published recently in the journal Science, has found extremely rare and unknown mutations that turned up three to four times as often in people with schizophrenia as in those without it. The researchers involved in the study analyzed blood samples from 150 people with a diagnosis of schizophrenia and 268 without a psychiatric disorder. They looked for rare variations that disrupted the function of genes using new high-resolution techniques that quickly scan the entire human DNA map.
The researchers found that some of these mutations were inherited; others occur spontaneously during or near conception. They found 53 such mutations over all and reported that the mutations that disrupted genes were three times as likely to turn up in people with schizophrenia as in those without it.
Judith Rapoport, chief of the child psychology branch at the National Institute of Mental Health and one of the researchers, who has spent the past three decades studying how children's brain development is affected by disorders like schizophrenia, is convinced that there are more genetic links between schizophrenia and autism.
She and her colleagues have found that two places where variations in genes tended to cluster in people with schizophrenia were also more common in people with autism. Rapoport said, "We're very excited about the link to autism. You have to see these as risk factors, very intriguing ones."
The researchers have tried for generations to understand the biological underpinnings of schizophrenia, which affects 1 percent of the population, causing scrambled thinking and delusions. The new study, which was jointly conducted by the National Institute of Mental Health, the University of Washington-Seattle, and Cold Spring Harbor Laboratory, suggests that, if anything, the genetics of the disorder are even more complex than many had presumed. But if replicated, the study's results will significantly alter the course of psychiatric research, say the researchers involved in the study.
The researchers are now going through their data with a finer comb, looking for more correlations—and, perhaps, stronger clues as to where the brain's path goes so grievously astray. There's no insta-cure here, yet. But having a clearer view of what the genes are up to makes it more likely that genetic diagnoses and treatments could someday be created. It also could help move the debate from arguing over whether there are environmental triggers for autism to finding them and coming up with ways to protect people who are genetically susceptible.