Schizophrenia is a devastating brain disease that leads to delusions, acting out, and hallucinations.
The disease tends to start in late adolescence or early adulthood. It can stay with an individual for a lifetime, despite treatment. Schizophrenia may affect one in every 100 people at some point in their life.
Now researchers believe that a specific gene variation may contribute to the condition.
The research, published in two online journals, represents some of the strongest genetic links ever found to the cause of schizophrenia. The fact that the disease runs in families was one clue to the genetic component.
Harvard Medical School researchers say actually three rare deletions in human genes appear to contribute to an increase risk of developing schizophrenia. The findings are published by the International Schizophrenia Consortium in today’s editions of Nature and Nature Genetics online.
Of the two papers in Nature, the genomes of 3,300 patients with schizophrenia were compared to roughly the same number of individuals without it.
“We looked at a relatively rare type of DNA change where people have a substantial portion of a chromosome either missing or extra. These are called copy number changes," Dr. Pamela Sklar, author of one of the papers and director of genetics at Harvard Medical School told U.S. News. Researchers found three deletions on genes on many people with the disease.
For researchers, discovering two of the deletions was new and now triples the number of DNA areas that could underlie schizophrenia.
"All of these together were found in about 1 percent of patients. “But they conferred a very large risk, multiplying the odds of getting schizophrenia by a factor of more than 10.” said Dr. Kari Stefansson, senior author of one of the Nature papers and CEO of deCODE in Reykjavik, Iceland.
For those who suffer from schizophrenia, there have been few breakthroughs, so this news offers hope.
"There has been precious little on diseases of the brain, and what seems to be emerging is that a lot of risk of brain diseases, including schizophrenia and autism, seems to be conferred by rare [gene] variants like rare deletions," said Dr. Kari Stefansson, senior author of one of the Nature papers and CEO of deCODE in Reykjavik, Iceland tells U.S. News & World Report.
A paper in Nature Genetics found a gene variant near the gene ZNF804A which may regulate other genes. These were a much more common genetic variant.
Nature Genetics lead author, Michael O'Donovan, professor of psychiatric genetics at Cardiff University in the United Kingdom, said to U.S. News, “We don’t know how much of a role they (common variants) play compared with rare variants,” he says. “But it means that virtually all of us have genes for schizophrenia, but probably those of us who don’t have schizophrenia don’t have enough of the genes or possibly have not been exposed to [an environmental stimulus].”
Researchers believe the gene variant occurs in as many as one in every 10,000 people rather than one in 10 million as previously thought.
Researchers believe these findings open up a new era in the field and will likely lead to the development of new drugs, improved diagnosis, and preventative therapies.
Typically anti-psychotic drugs, such as AstraZeneca’s Seroquel and Eli Lilly’s Zyprexa have side effects that include muscle rigidity and weight gain. #