Main Category: Schizophrenia
Also Included In: Genetics;Â Â Medical Devices / Diagnostics
Article Date: 16 May 2012 - 1:00 PDT
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Article opinions:Â 2 posts An Indiana University-led research team, along with a group of national and international collaborators, has identified and prioritized a comprehensive group of genes most associated with schizophrenia that together can generate a score indicating whether an individual is at higher or lower risk of developing the disease.
Using a convergent functional genomics approach that incorporates a variety of experimental techniques, the scientists also were able to apply a panel of their top genes to data from other studies of schizophrenia and successfully identify which patients had been diagnosed with schizophrenia and which had not, according to a report published online by the journal Molecular Psychiatry.
Evaluating the biological pathways in which the genes are active, the researchers also proposed a model of schizophrenia as a disease emerging from a mix of genetic variations affecting brain development and neuronal connections along with environmental factors, particularly stress.
"At its core, schizophrenia is a disease of decreased cellular connectivity in the brain, precipitated by environmental stress during brain development, among those with genetic vulnerability," said principal investigator Alexander B. Niculescu III, M.D., Ph.D., associate professor of psychiatry and medical neuroscience at the IU School of Medicine and director of the Laboratory of Neurophenomics at the IU Institute of Psychiatric Research.
"For first time we have a comprehensive list of the genes that have the best evidence for involvement in schizophrenia," said Niculescu, who is also staff psychiatrist and investigator at the Richard L. Roudebush Veterans Affairs Medical Center.
Schizophrenia is a relatively widespread psychiatric disease, affecting about 1 percent of the population, often with devastating impact. People with schizophrenia can have difficulty thinking logically and telling the difference between real and unreal experiences, and may engage in bizarre behavior.
When the test estimating the risk for schizophrenia is refined, it could provide guidance to caregivers and health care professionals about young people in families with a history of the disease, prompting early intervention and treatment when behavioral symptoms of schizophrenia occurred among those at higher risk, Dr. Niculescu said.
He stressed that a score indicating a higher risk of schizophrenia "doesn't determine your destiny. It just means that your neuronal connectivity is different, which could make you more creative, or more prone to illness."
"It's all on a continuum; these genetic variants are present throughout the population. If you have too many of them, in the wrong combination, in an environment where you are exposed to stress, alcohol and drugs, and so on, that can lead to the development of the clinical illness," he said.
The prototype test was able to predict whether a person was at a higher or lower risk of schizophrenia in about two-thirds of cases.
To identify and prioritize the genes, the researchers combined data from several different types of studies. These included genome-wide association studies, gene expression data derived from human tissue samples, genetic linkage studies, genetic evidence from animal models, and other work. This approach, called convergent functional genomics, has been pioneered by Niculescu and colleagues, and relies on multiple independent lines of evidence to implicate genes in clinical disorders.
The authors noted that the results were stronger when analyses were performed using gene-level data, rather than analyses based on individual mutations - called single nucleotide polymorphisms, or SNPs - in those genes. Multiple different SNPs can spark a particular gene's role in the development of schizophrenia, so evidence for the genes, and the biological mechanisms in which they play a role, was much stronger from study to study than was the evidence for individual SNPs.
Past research looking at individual mutations was difficult to replicate from study to study, Dr. Niculescu said. Tuesday's paper, however, indicates that much of the research done in recent years has in fact produced consistent results at a gene and biological pathway level.
"There is a lot more reproducibility and concordance in the field than people realized," he said.
"Finally now, by better understanding the genetic and biological basis of the illness, we can develop better tests for it, as well as better treatments. The future of medicine is not just treatment but prevention, so we hope this work will move things in the right direction."
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Support for the research was provided by a National Institutes of Health Director's New Innovator Award (1DP2OD007363) and a Veterans Administration Merit Award (1I01CX000139-01).
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Visitor Opinions (latest shown first)
isn't this like "bumps on the head" research?
posted by Hugh on 16 May 2012 at 5:22 amAnd I can do a study that shows that certain genes, and bumps on the head, are related to criminality. People with those genes go to prison with more regularity than people with other variations.
But the genes don't cause crimes, they indicated social conditions and familial social learning that lead some people onto a path.
I was diagnosed with schizophrenia, and forcibly locked in a state institution and forcibly drugged with crap that shrunk my brain (look it up). I have a dog in this insane fight that psychiatrists are waging with their pseudoscience to drug a fifth or our population.
Look to trauma to the cause of dysfunction.
Hugh
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Genetic and environmental causes of schizophrenia
posted by WillDav on 16 May 2012 at 4:05 amSchizophrenia affects my family, and I've spent almost 30 years researching the causes. Immune system dysregulation, driven by persistent activation of the transcription factor, NF-kB, appears to be responsible.
The research broadened into other areas as it became evident that chronic, aberrant NF-kB activation was also causing many other non-communicable diseases.
Many genetic, environmental and lifestyle factors contribute to aberrant NF-kB activation. In the case of schizophrenia, predisposing genetic polmorphisms include the serotonin transporter, dopamine D2 and serotonin 5-HT2A receptors, CYP2D6, COMT and TPH enzymes.
Environmental factors include latitude, spring birth, urban environment (probably due to pollution) and infections such as human endogenous retroviruses, Borrelia, mycobacteria, T. gondii, borna virus, cytomegalovirus and toxocara (roundworms).
I've written a (rather lengthy) blog on the subject, which has more than 900 links to PubMed papers.
imdtheory.blogspot.com
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