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Intensive DNA search yields 10 genes tied directly to schizophrenia

JacksinPA

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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.
 
interesting. i hope that they are able to use this discovery to make progress in treating this awful disease.
 
interesting. i hope that they are able to use this discovery to make progress in treating this awful disease.

A very close relative has this disease. It is insidious and like many diseases of the brain has ramifications with families and friends that sadly many do not see.
 
A very close relative has this disease. It is insidious and like many diseases of the brain has ramifications with families and friends that sadly many do not see.

i'm sorry to hear that. mental illness is life altering, and schizophrenia is one of most terrifying forms of it, IMO.
 
interesting. i hope that they are able to use this discovery to make progress in treating this awful disease.

I can only imagine a few fates worth than being robbed of the ability to determine reality. If I had a grasp for enough years, maybe I could hold on a while. But if you cannot trust anything, ever?
 
Depression, especially the bipolar mania type, can also have life altering effects in a likewise negative sense. And none of the drugs that have been developed, such as Prozac, Zoloft, Paxil,etc. do anything other than spike sales & kill a lot of people via suicide.
 
i'm sorry to hear that. mental illness is life altering, and schizophrenia is one of most terrifying forms of it, IMO.

I think they all have terrifying affects.

I was posted to an Infantry unit. One formed in Aug 1914 before the war. A bloody and rich tradition in War.
The fellow that ran the unit canteen had served his entire career in the Regiment. He and I had many the discussions, and yes I did seek advice from him

One day I was in an alley in the building, he had followed me and told me he had Lou Gerhigs disease, 1st person in the unit he told. I wondered why me for a few seconds and then we then had a long talk

Needless to say I was devastated as I had learned early in life and later what the disease did to a person, courtesy of the Hollywood movie Pride of the Yankees

Thank you for cuing the discussion, made me think of that day and say a prayer for him and shed a few tears
 
After starting this thread, I became interested in molecules used as drugs that affect the glutamate system in the brain. I found a doozy:

Quisqualic acid - Wikipedia

Quisqualic acid

Quisqualic acid is an agonist of the AMPA, kainate, and group I metabotropic glutamate receptors. It is one of the most potent AMPA receptor agonists known.[1][2][3][4] It causes excitotoxicity and is used in neuroscience to selectively destroy neurons in the brain or spinal cord.[5][6][7] Quisqualic acid occurs naturally in the seeds of Quisqualis species. Research conducted by the USDA Agricultural Research Service, has demonstrated quisqualic acid is also present within the flower petals of zonal geranium (Pelargonium x hortorum) and is responsible for causing rigid paralysis of the Japanese beetle.[8][9] Quisqualic acid is thought to mimic L-glutamic acid, which is a neurotransmitter in the insect neuromuscular junction and mammalian central nervous system.[10]

I haven't looked for any home lab recipes for making this stuff, but it sounds like it would be more effective as a potent poison than as a party drug. I'd never heard of it before.
 
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