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Intensive DNA search yields 10 genes tied directly to schizophrenia | Science | AAAS
Schizophrenia tends to run in families, which suggests it’s largely inherited. But a long-running search for genes underlying this severe psychiatric condition has yielded only indirect clues. Now, by scouring the DNA of tens of thousands of people, gene hunters have for the first time nabbed a handful of rare genes that, when mutated, appear to be direct contributors to the disease—and may shed light on what goes awry in a schizophrenia patient’s brain.
“These are concrete genes with mutations with a clear molecular mechanism,” says Mark Daly of the Broad Institute in Cambridge, Massachusetts, and the University of Helsinki, who is principal investigator for a consortium that presented the work last week at the annual meeting of the American Society of Human Genetics (ASHG) here.
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Identification of these genes gives science ways to treat schizophrenia on a molecular level with drugs designed to treat the disorder's mechanism.
'People with schizophrenia, which afflicts about 0.7% of the U.S. population, have a distorted sense of reality and confused thinking; they may have hallucinations and delusions. Some patients share similar genetic abnormalities, such as missing specific chunks of DNA, but how those gaps may contribute to disease isn’t known.'
They have now found 10 genes with ultrarare disabling variants that promote schizophrenia. If one of a person’s two copies of any of these genes are the disabled type, their risk of developing schizophrenia increases four to 50 times. (One copy comes from the mother & one from the father). I imagine that having both copies of the gene disabled would increase that risk to near certainty.
Four of these 10 genes encode for brain receptor proteins for the neurotransmitter glutamate. Some researchers have long suspected that the glutamate pathway is involved in schizophrenia, in part because two drugs that block these receptors, PCP and ketamine, can trigger schizophrenialike symptoms. Now, they have genetic confirmation and a new impetus to develop drugs that target the glutamate pathway.
Schizophrenia tends to run in families, which suggests it’s largely inherited. But a long-running search for genes underlying this severe psychiatric condition has yielded only indirect clues. Now, by scouring the DNA of tens of thousands of people, gene hunters have for the first time nabbed a handful of rare genes that, when mutated, appear to be direct contributors to the disease—and may shed light on what goes awry in a schizophrenia patient’s brain.
“These are concrete genes with mutations with a clear molecular mechanism,” says Mark Daly of the Broad Institute in Cambridge, Massachusetts, and the University of Helsinki, who is principal investigator for a consortium that presented the work last week at the annual meeting of the American Society of Human Genetics (ASHG) here.
=====================================================
Identification of these genes gives science ways to treat schizophrenia on a molecular level with drugs designed to treat the disorder's mechanism.
'People with schizophrenia, which afflicts about 0.7% of the U.S. population, have a distorted sense of reality and confused thinking; they may have hallucinations and delusions. Some patients share similar genetic abnormalities, such as missing specific chunks of DNA, but how those gaps may contribute to disease isn’t known.'
They have now found 10 genes with ultrarare disabling variants that promote schizophrenia. If one of a person’s two copies of any of these genes are the disabled type, their risk of developing schizophrenia increases four to 50 times. (One copy comes from the mother & one from the father). I imagine that having both copies of the gene disabled would increase that risk to near certainty.
Four of these 10 genes encode for brain receptor proteins for the neurotransmitter glutamate. Some researchers have long suspected that the glutamate pathway is involved in schizophrenia, in part because two drugs that block these receptors, PCP and ketamine, can trigger schizophrenialike symptoms. Now, they have genetic confirmation and a new impetus to develop drugs that target the glutamate pathway.