Scientists believe they have located the molecular process in the brain that triggers schizophrenia – a significant finding that may lead to new treatments and earlier detection, The Washington Post reported.
The study, which was published in Nature, “found that a person’s risk of schizophrenia is dramatically increased if they inherit variants of a gene important to ‘synaptic pruning’ – the healthy reduction during adolescence of brain cell connections that are no longer needed,” the Post said.
Patients with schizophrenia have a single variation in their DNA sequence. That variation causes excessive pruning that results in too many synapses marked for removal – and too much brain loss.
Prior studies led researchers to a region of DNA found on chromosome 6, according to Scientific American. Then they focused on a gene called complement component 4, or C4. This gene is involved in the immune system.
The researchers examined postmortem human brain samples and found variations in the number of C4 gene copies and gene length that could predict the gene’s activity in the brain.
Using a genome database, they compared C4 data from 22 countries in 28,800 people with schizophrenia and 36,000 people without schizophrenia, as well as 700 post-mortem brains.
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The higher the C4 activity, the greater the chances for developing schizophrenia, researchers concluded.
“For the first time, the origin of schizophrenia is no longer a complete black box,” said Eric Lander, director of the Broad Institute, which participated in the research. “While it’s still early days, we’ve seen the power of understanding the biological mechanism of disease in other settings. Early discoveries about the biological mechanisms of cancer have led to many new treatments and hundreds of additional drug candidates in development. Understanding schizophrenia will similarly accelerate progress against this devastating disease that strikes young people.”
Jonathan Sebat, chief of the Beyster Center for Molecular Genomics of Neuropsychiatric Diseases at the University of California, San Diego, told Scientific American that antipsychotic drugs might be able to be used to treat synaptic pruning. He said drugs are being developed to activate the immune system portion that involves C4.
Current drugs used to treat schizophrenia work to disrupt psychotic thinking, the Post said. But experts say psychosis is only one symptom that occurs fairly late in the disorder’s development.
The World Health Organization (WHO) estimated that more than 25 million people worldwide have schizophrenia. The disease’s annual economic impact runs into billions of dollars.
The disease, which is often hereditable, is “chronic, severe and disabling,” according to schizophrenia.com. It typically impacts men in their late teens or early 20s and women in their 20s to early 30s. Those afflicted with schizophrenia often display abnormal social behavior and have a distorted sense of reality.
In a video the Broad Institute posted on YouTube, researcher Beth Stevens, an assistant professor of neurology at Boston’s Children’s Hospital, said the findings may have implications for other neurological disorders, such as Autism and Alzheimer’s disease.
