New genetic link to schizophrenia identified
The discovery could one day lead to advances in the diagnosis and treatment of the disease, according to the study’s lead author, Tarjinder Singh, of the Broad Institute at MIT and Harvard, who led an effort that involved years of work by dozens of research institutes around the world.
“It’s the biological clue that leads to better therapies,” Singh said in an interview. “But the bottom line is that we haven’t had any significant clues for a very long time.”
Ken Duckworth, chief medical officer of the National Alliance on Mental Illness, a national advocacy group, said the study is an important development in the neuroscience that underlies schizophrenia. But he said it was difficult to predict how long such basic research would pay off for people living with the disease.
“This is a huge step forward for science that can yield long-term returns for people with schizophrenia and the people who live with them,” Duckworth said. But, he said, “if it’s a 17 inning game and they took us from the first inning to the second inning, how does that help anybody today?”
It is thought that less than 1% of the American population suffers from schizophrenia, which is usually treated with a range of powerful antipsychotic drugs. The disease reduces life expectancy by about 15 years, according to new research.
Scientists have long recognized a hereditary component to the disease, along with other factors such as the environment.
The work of isolating these genes could not have been accomplished even 10 or 15 years ago, Singh said, before the sequencing of the human genome and the dissemination of technology that allows such genetic detection work to be carried out. in laboratories around the world.
The current effort involved sequencing the exomes – the functional part of the larger human genome – of 24,248 people with schizophrenia and 97,322 without the disease.
The findings implicated very rare variations in 10 genes and hinted at the involvement of 22 others, according to the research. Some of the genes also appear to be implicated in autism spectrum disorders and other intellectual developmental disorders, Singh said.
Mutations in genes thought to be most likely to lead to schizophrenia appear to disrupt a way neurons in the brain communicate across synapses, the tiny spaces between them. Problems with this “glutamatergic system” have been suspected in schizophrenia.
“Despite this progress, it is clear that we are still in the early stages of gene discovery,” the authors wrote. “…These emerging genetic findings will serve in part to guide and motivate mechanistic studies that are beginning to unravel disease biology.”