Category: Schizophrenia

Traumatic sexual incidents may cause serious mental health problems in the years after the events, research at the University of Ulster has shown.

Using a unique investigative method, researchers at the University's Psychology Research Institute examined the mental health of women who had visited rape crisis centres — and it showed that sexual trauma plays a role in the development of psychotic disorders such as schizophrenia.

The propensity for trauma victims to move away from the area in which the traumatic incident took place — thus disrupting their social support networks — may also expose them to further mental health risks.

Results of the analysis have recently been published in the journal Schizophrenia Bulletin.

The collaborative study saw the University of Ulster link up with the University of Southern Denmark to examine the data gathered from the Danish Civil Registration System (CRS), which is a database of official information held on Danish citizens since 1968.

Professor Mark Shevlin, from Ulster's School of Psychology, said that using the CRS was a unique type of research never undertaken in this area before.

Professor Shevlin said: "Trauma research is fraught with methodological difficulties. The use of the CRS has allowed us to conduct case-control prospective studies in a very efficient way. Our most recent study identified an association between rape and subsequent diagnosis of a psychotic disorder over a 10-year period. This study would have been virtually impossible without the use of CRS data."

Professor Shevlin has been working alongside Professor Ask Elklit at the University of Southern Denmark, and he said that the research has important implications on treatment and developing therapies for those with schizophrenia.

Professor Elklit said: "The CRS provides researchers with information on a large number of variables related to physical and psychological health, education, employment, income, and housing. Collaborating with Ulster has provided us with the skills and expertise to link separate databases and conduct statistical analyses to help answer important psychological questions.

"For example, this has allowed us to identify social factors that increase the risk of rape or sexual victimization, and estimate the costs in terms of physical and psychological problems."

Professors Elklit and Shevlin are planning to continue and extend their CRS research. They have commenced a project that aims to model multiple traumatic childhood experiences and subsequent psychological and behavioural problems.

Journal Reference:

1. A. Elklit, M. Shevlin. Female Sexual Victimization Predicts Psychosis: A Case-Control Study Based on the Danish Registry System. Schizophrenia Bulletin, 2010; DOI: 10.1093/schbul/sbq048

Defects in insulin function — which occur in diabetes and obesity — could directly contribute to psychiatric disorders like schizophrenia.

Vanderbilt University Medical Center investigators have discovered a molecular link between impaired insulin signaling in the brain and schizophrenia-like behaviors in mice. The findings, reported June 8 in PLoS Biology, offer a new perspective on the psychiatric and cognitive disorders that affect patients with diabetes and suggest new strategies for treating these conditions.

"We know that people with diabetes have an increased incidence of mood and other psychiatric disorders," said endocrinologist Kevin Niswender, M.D., Ph.D. "And we think that those co-morbidities might explain why some patients have trouble taking care of their diabetes."

"Something goes wrong in the brain because insulin isn't signaling the way that it normally does," said neurobiologist Aurelio Galli, Ph.D.

Galli's group was among the first to show that insulin — the hormone that governs glucose metabolism in the body — also regulates the brain's supply of dopamine — a neurotransmitter with roles in motor activity, attention and reward. Disrupted dopamine signaling has been implicated in brain disorders including depression, Parkinson's disease, schizophrenia and attention-deficit hyperactivity disorder.

Now, Galli, Niswender, and colleagues have pieced together the molecular pathway between perturbed insulin signaling in the brain and dopamine dysfunction leading to schizophrenia-like behaviors.

The researchers developed mice with an insulin-signaling defect only in neurons (they impaired the function of the protein Akt, which transmits insulin's signal inside cells). They found that the mice have behavioral abnormalities similar to those frequently seen in patients with schizophrenia.

They also showed how defects in insulin signaling disrupt neurotransmitter levels in the brain — the mice have reduced dopamine and elevated norepinephrine in the prefrontal cortex, an important area for cognitive processes. These changes resulted from elevated levels of the transporter protein (NET) that removes norepinephrine and dopamine from the synaptic space between neurons.

"We believe the excess NET is sucking away all of the dopamine and converting it to norepinephrine, creating this situation of hypodopaminergia (low levels of dopamine) in the cortex," Galli explained. Low dopamine function in the cortex is thought to contribute to the cognitive deficits and negative symptoms — depression, social withdrawal — associated with schizophrenia.

By treating the mice with NET inhibitors (drugs that block NET activity), the investigators were able to restore normal cortical dopamine levels and behaviors. Clinical trials of NET inhibitors in patients with schizophrenia are already under way, Galli said, and these new data provide mechanistic support for this approach.

The findings also provide a molecular basis for interpreting previous reports of Akt deficiencies in patients with schizophrenia, as revealed by post-mortem, imaging and genetic association studies.

Galli and Niswender suggest that the insulin to Akt signaling pathway is critical for "fine-tuning" the function of monoamine neurotransmitters — dopamine, norepinephrine and serotonin — and that it can be impaired in many different ways.

"Dysregulation of this pathway — because of type 1 diabetes, because of a high-fat diet, because of drugs of abuse, because of genetic variations — may put a person on the road to neuropsychiatric disorders," Galli said.

Understanding the molecular link between insulin action and dopamine balance — the connection between food and mood — offers the potential for novel therapeutic approaches, the researchers said. The mouse model described in the current studies may be useful for testing schizophrenia and cognition-enhancing treatments.

Michael Siuta and Sabrina Robertson are the lead authors of the study. Niswender is an assistant professor of Medicine and Molecular Physiology & Biophysics; Galli is a professor of Molecular Physiology & Biophysics.

The National Institutes of Health and the Vanderbilt University Silvio O. Conte Center for Neuroscience Research supported the research.

Journal Reference:

1. Siuta MA, Robertson SD, Kocalis H, Saunders C, Gresch PJ, et al. Dysregulation of the Norepinephrine Transporter Sustains Cortical Hypodopaminergia and Schizophrenia-Like Behaviors in Neuronal Rictor Null Mice. PLoS Biology, 2010; 8 (6): e1000393 DOI: 10.1371/journal.pbio.1000393

NewsPsychology (May 29, 2010) — Exposure to the common virus that causes cold sores may be partially responsible for shrinking regions of the brain and the loss of concentration skills, memory, coordinated movement and dexterity widely seen in patients with schizophrenia, according to research led by Johns Hopkins scientists.

“We’re finding that some portion of cognitive impairment usually blamed solely on the disease of schizophrenia might actually be a combination of schizophrenia and prior exposure to herpes simplex virus 1 infection, which reproduces in the brain,” says study leader David J. Schretlen, Ph.D., an associate professor in the Department of Psychiatry at Johns Hopkins University School of Medicine.

The research, described in the May Schizophrenia Research, could lead to new ways to treat or prevent the cognitive impairment that typically accompanies this mental illness, including with antiviral drugs, the scientists say.

Doctors have long known that cognitive impairment, including problems with psychomotor speed, concentration, learning, and memory, are prevalent features of schizophrenia, which affects an estimated one percent of the U.S. population. Cognitive deficits often surface months to years before symptoms that are traditionally used to diagnose this disease, such as delusions or hallucinations.

Some previous studies have shown that schizophrenic patients with antibodies to herpes simplex virus 1 (HSV-1), the virus that causes cold sores, often have more severe cognitive deficits than patients without these antibodies. Other studies have shown that patients with HSV-1 antibodies have decreased brain volumes compared to patients without the antibodies. However, it has been unclear whether the cognitive deficits are directly related to the decreased brain volume.

To investigate, Schretlen and his colleagues recruited 40 schizophrenic patients from outpatient clinics at the Johns Hopkins and Sheppard Enoch Pratt hospitals in Baltimore, Md. Blood tests showed that 25 of the patients had antibodies for HSV-1 and 15 didn’t. The researchers gave all of the patients tests to measure speed of coordination, organizational skills and verbal memory. The patients then underwent MRI brain scans to measure the volume of particular regions of their brains.

As in previous studies, results showed that patients with antibodies to HSV-1 performed significantly worse on the cognitive tests than patients without the antibodies. But expanding on those earlier studies, analysis of the brain scans showed that the same patients who performed poorly on the tests also had reduced brain volume in the anterior cingulate, which controls processing speed and the ability to switch tasks. There was also shrinkage in the cerebellum, which controls motor function.

These results suggest that HSV-1 might be directly causing the cognitive deficits by attacking these brain regions, Schretlen says.

Though the researchers aren’t sure why schizophrenia might make brains more vulnerable to a viral assault, Schretlen says the results already suggest new ways of treating the disorder. Data from other studies has shown that antiviral medications can reduce psychiatric symptoms in some patients with schizophrenia. “If we can identify schizophrenic patients with HSV-1 antibodies early on, it might be possible to reduce the risk or the extent of cognitive deficits,” he adds.

Other Johns Hopkins researchers who participated in this study include Tracy D. Vannorsdall, Ph.D., Jessica M. Winicki, B.A., Takatoshi Hikida, M.D., Akira Sawa, M.D., Ph.D., Robert H. Yolken, M.D., and Nicola G. Cascella, M.D.

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Story Source:

The above story is reprinted (with editorial adaptations by newsPsychology staff) from materials provided by Johns Hopkins Medical Institutions, via EurekAlert!, a service of AAAS.

Journal Reference:

1. David J. Schretlen, Tracy D. Vannorsdall, Jessica M. Winicki, Yaser Mushtaq, Takatoshi Hikida, Akira Sawa, Robert H. Yolken, Faith B. Dickerson, Nicola G. Cascella. Neuroanatomic and cognitive abnormalities related to herpes simplex virus type 1 in schizophrenia. Schizophrenia Research, 2010; 118 (1-3): 224 DOI: 10.1016/j.schres.2010.01.008

Disclaimer: This article is not intended to provide medical advice, diagnosis or treatment. Views expressed here do not necessarily reflect those of NewsPsychology or its staff.

Researchers in Germany have used a magnetic resonance imaging (MRI) technique called continuous arterial spin labeling (CASL) to map cerebral blood flow patterns in schizophrenic patients quickly and without using radiation or contrast agents.

Their findings appear in the online edition and July printed issue of the journal Radiology.

"Arterial spin labeling is a powerful technique that can help reduce the cost and complexity of examinations," said the study's lead author, Lukas Scheef, M.D., from the Department of Radiology at University of Bonn, Germany. "It can also be more readily repeated than methods that involve the use of contrast agents and radiotracers."

Schizophrenia is a chronic and severe brain disorder that affects approximately 2.4 million American adults, according to the National Institute of Mental Health. Symptoms can include hallucinations, delusions, disordered thinking, movement disorders, social withdrawal and cognitive deficits.

In the study, conducted at the University Hospital of Bonn in Germany, researchers used CASL MRI to compare cerebral blood flow in 11 non-medicated patients with schizophrenia and 25 healthy controls. The patient group included three women with a mean age of 36 years and eight men with a mean age of 32 years. The control group included 13 women (mean age, 29 years) and 12 men (mean age, 30 years).

The results revealed that compared to the healthy controls, the schizophrenic patients had extensive areas of hypoperfusion, or lower blood flow than normal in the frontal lobes and frontal cortex, anterior and medial cingulate gyri, and parietal lobes. These regions are associated with a number of higher cognitive functions including planning, decision making, judgment and impulse control.

Hyperperfusion, or increased blood flow, was observed in the cerebellum, brainstem and thalamus of the schizophrenic patients.

"Our CASL study revealed patterns of hypo- and hyperperfusion similar to the perfusion patterns observed in positron emission tomography (PET) and single photon emission computed tomography (SPECT) studies of schizophrenic patients," Dr. Scheef said.

Unlike PET and SPECT studies, CASL MR images can be quickly acquired without the use of ionizing radiation or contrast agents. In CASL MRI, arterial blood water is magnetically labeled in order to non-invasively measure cerebral blood flow.

"CASL MRI may allow researchers to gain a better understanding of schizophrenia," Dr. Scheef said. "In the long run, it may help to individualize and optimize treatment."

Journal Reference:

1. L. Scheef, C. Manka, M. Daamen, K. U. Kuhn, W. Maier, H. H. Schild, F. Jessen. Resting-State Perfusion in Nonmedicated Schizophrenic Patients: A Continuous Arterial Spin-labeling 3.0-T MR Study. Radiology, 2010; DOI: 10.1148/radiol.10091224

— New research shows a possible explanation for the link between mental health and creativity. By studying receptors in the brain, researchers at Karolinska Institutet have managed to show that the dopamine system in healthy, highly creative people is similar in some respects to that seen in people with schizophrenia.

High creative skills have been shown to be somewhat more common in people who have mental illness in the family. Creativity is also linked to a slightly higher risk of schizophrenia and bipolar disorder. Certain psychological traits, such as the ability to make unusual pr bizarre associations are also shared by schizophrenics and healthy, highly creative people. And now the correlation between creativity and mental health has scientific backing.

"We have studied the brain and the dopamine D2 receptors, and have shown that the dopamine system of healthy, highly creative people is similar to that found in people with schizophrenia," says associate professor Fredrik Ullén from Karolinska Institutet's Department of Women's and Children's Health, co-author of the study that appears in the journal PLoS ONE.

Just which brain mechanisms are responsible for this correlation is still something of a mystery, but Dr Ullén conjectures that the function of systems in the brain that use dopamine is significant; for example, studies have shown that dopamine receptor genes are linked to ability for divergent thought. Dr Ullén's study measured the creativity of healthy individuals using divergent psychological tests, in which the task was to find many different solutions to a problem.

"The study shows that highly creative people who did well on the divergent tests had a lower density of D2 receptors in the thalamus than less creative people," says Dr Ullén. "Schizophrenics are also known to have low D2 density in this part of the brain, suggesting a cause of the link between mental illness and creativity."

The thalamus serves as a kind of relay centre, filtering information before it reaches areas of the cortex, which is responsible, amongst other things, for cognition and reasoning.

"Fewer D2 receptors in the thalamus probably means a lower degree of signal filtering, and thus a higher flow of information from the thalamus," says Dr Ullén, and explains that this could a possible mechanism behind the ability of healthy highly creative people to see numerous uncommon connections in a problem-solving situation and the bizarre associations found in the mentally ill.

"Thinking outside the box might be facilitated by having a somewhat less intact box," says Dr Ullén about his new findings.

Journal Reference:

1. Örjan de Manzano, Simon Cervenka, Anke Karabanov, Lars Farde, Fredrik Ullén, Aldo Rustichini. Thinking Outside a Less Intact Box: Thalamic Dopamine D2 Receptor Densities Are Negatively Related to Psychometric Creativity in Healthy Individuals. PLoS ONE, 2010; 5 (5): e10670 DOI: 10.1371/journal.pone.0010670

All the major groups of medications for schizophrenia turn up the volume of a brain signal known to be muted in individuals with this psychiatric disorder — a signal that also can be influenced by diet. "This is the first example of a common but specific molecular effect produced by all antipsychotic drugs in any biological system," scientists note in the current edition of ACS Chemical Neuroscience.

In the report, Eric J. Aamodt and colleagues explained that scientists know little about how antipsychotic drugs work, aside from the drugs' effects on one signaling chemical called dopamine. New studies, for instance, suggested that medications like olanzapine, quetiapine, and clozapine also affect other signaling systems in the brain. These systems, including one termed the Akt signaling pathway, influence behavior by regulating communication between brain cells. To fill those gaps in knowledge, the scientists turned to genetically modified forms of a worm, C. elegans, often used as a stand-in for people in such research. The tiny creatures were wired to glow green to show activity of Akt, a signal that is too quiet in schizophrenic brains.

They found that all of the 13 antipsychotic drugs tested, representative of all major categories of antipsychotic medications, helped the worms maintain their characteristic green glow. The results highlight the importance of Akt signaling in schizophrenia, suggesting that medications or other approaches that increase Akt signaling might help to alleviate the symptoms of schizophrenia. Other labs have identified certain dietary measures that may also increase Akt signaling.

Journal Reference:

1. Weeks et al. Antipsychotic Drugs Activate the C. elegans Akt Pathway via the DAF-2 Insulin/IGF-1 Receptor. ACS Chemical Neuroscience, 2010; 100325110757056 DOI: 10.1021/cn100010p

Regular exercise can play an important a role in improving the physical and mental wellbeing of individuals with schizophrenia, according to a review published in The Cochrane Library. Following a systematic review of the most up-to-date research on exercise in schizophrenia, researchers concluded that the current guidelines for exercise should be followed by people with schizophrenia just as they should by the general population.

"Current guidelines for exercise appear to be just as acceptable to individuals with schizophrenia in terms of potential physical and mental health benefit," says lead researcher Guy Faulkner of the Faculty of Physical Education and Health at the University of Toronto, Canada. "So thirty minutes of moderate physical activity on most or all days of the week is a good goal to aim for. Start slowly and build up."

Schizophrenia is a serious mental illness affecting four in every 1,000 people. It is already known that exercise can improve mental health, but so far there has been only limited evidence of effects in schizophrenia. The new review focused on three recent small studies that compared the effects of 12-16 week exercise programmes, including components such as jogging, walking and strength training, to standard care or yoga.

The researchers found that exercise programmes improved mental state for measures including anxiety and depression, particularly when compared to standard care. Changes in physical health outcomes were seen but they were not significant overall. However, the researchers suggest this may be due to the short timescale of the trials.

Two previous reviews have found exercise therapy to be beneficial in schizophrenia, but called for more rigorous research. "This new review suggests that such calls are starting to be addressed," says Faulkner. "But we still need more research that will help us learn how we can get individuals with schizophrenia engaged in exercise programmes in the first place, and how such programmes can be developed and implemented within mental health services. That's one of the biggest challenges for this type of intervention."

Journal Reference:

1. Gorczynski P, Faulkner G. Exercise therapy for schizophrenia. Cochrane Database of Systematic Reviews, 2010, Issue 5. Art. No.: CD004412 DOI: 10.1002/14651858.CD004412.pub2

By analyzing the genomes of patients with schizophrenia, genetics researchers have discovered numerous copy number variations — deletions or duplications of DNA sequences — that increase the risk of developing schizophrenia. Significantly, many of these variations occur in genes that affect signaling among brain cells.

"When we compared the genomes of patients with schizophrenia to those of healthy subjects, we found variations in genes that regulate brain functions, several of which are already known to be perturbed in patients with this disorder," said study leader Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia. "Although much research remains to be done, detecting genes on specific pathways is a first step to identifying more specific targets for improved drug treatments."

The research appears in the Proceedings of the National Academy of Sciences.

A devastating psychiatric disorder that affects an estimated 1.5 percent of the population, or millions of Americans, schizophrenia may include hallucinations, disorganized speech, abnormal thought processes and other symptoms. It typically becomes apparent in late adolescence or early adulthood. Patients often have a family history of schizophrenia, and scientists believe the disorder results from an interaction of genetic predisposition and environmental effects.

Hakonarson and colleagues compared DNA samples from a total of 1,735 adult patients with schizophrenia to DNA from 3,485 healthy adult subjects, using highly automated genotyping tools. They used a whole-genome approach, covering the full set of genetic material from each individual, following their first analysis with a replication study.

The study team found copy number variations (CNVs) in or near genes that play important roles in the brain. Among those genes were CACNA1B and DOC2A, both of which carry the codes for proteins that use calcium signals to help control how neurotransmitters are released in the brain. Two other genes, RET and RIT2, are members of another signaling gene family known to be involved in brain development.

The researchers found that the genes and signaling systems linked to schizophrenia had some overlap with those for autism and for attention-deficit hyperactivity disorder. In fact, the current study found deletions in the same region of chromosome 16 as that found in a CNV study of autism spectrum disorders that Hakonarson led in 2009. "Although different brain regions may be affected in these different neuropsychiatric disorders, these overlaps suggest that there may be common features in their underlying pathogenesis," said Hakonarson. "These genes affect synaptic function, so deletions or duplications in those genes may alter how brain circuits are formed."

Hakonarson said future studies will investigate how these CNVs and other CNVs yet to be discovered may alter brain function. Ultimately, he added, better understanding of signaling pathways in the brain may enable researchers to devise better drugs for schizophrenia, drugs that can selectively act on those biological pathways, with better efficacy and fewer side effects for patients.

The National Institutes of Health provided funding support for this study, along with the Cotswold Foundation, and an Institutional Development Award to the Center for Applied Genomics from The Children's Hospital of Philadelphia. Hakonarson's co-authors were from The Children's Hospital of Philadelphia, the University of Pennsylvania School of Medicine; Mount Sinai School of Medicine; Sheba Medical Center, Tel Hashomer, Israel; and King's College, London, UK.

Journal Reference:

1. Hakonarson et al. Strong synaptic transmission impact by copy number variations in schizophrenia. Proceedings of the National Academy of Sciences, 2010; DOI: 10.1073/pnas.1000274107

Children normally experience flights of fancy, including imaginary friends and conversations with stuffed animals, but some of them are also having hallucinations and delusions which might be the early signs of psychosis.

A study of British 12-year-olds that asked whether they had ever seen things or heard voices that weren't really there, and then asked careful follow-up questions, has found that nearly 6 percent may be showing at least one definite symptom of psychosis.

The children who exhibited these symptoms had many of the same risk factors that are known to correlate with adult schizophrenia, including genetic, social, neurodevelopmental, home-rearing and behavioral risks.

"We don't want to be unduly alarmist, but this is also not something to dismiss," said co-author Terrie Moffitt, the Knut Schmidt Nielsen professor of psychology and neuroscience and psychiatry & behavioral sciences at Duke University. The study appears in the April issue of Archives of General Psychiatry.

The children were participants in the long-term Environmental Risk Longitudinal Twin Study in Britain, which includes 2,232 children who have been tracked since age 5 and reassessed at 7, 10 and 12.

The British study is an outgrowth of research that the same group did earlier with a long-term cohort in Dunedin, New Zealand. At age 11, those children were asked about psychotic symptoms, but the researchers waited 15 years to see how, as adults, their symptoms matched what they reported at 11. By age 26, half of the people who self-reported symptoms at age 11 were found to be psychotic as adults.

"It looks like a non-trivial minority of children report these symptoms," said co-author Avshalom Caspi, the Edward M. Arnett professor of psychology and neuroscience and psychiatry & behavioral sciences at Duke.

The findings provide more clues to the development of schizophrenia, but don't solve any questions by themselves, said co-author Richard Keefe, director of the schizophrenia research group in the department of psychiatry and behavioral sciences at Duke.

Schizophrenia often goes undetected until adolescence, when the first overt symptoms — antisocial behavior, self-harm, delusions — begin to manifest in an obvious way. But nobody knows whether the disease is triggered by the process of adolescence itself, or brain development or hormone changes. "It's my impression that all of those things interact," Keefe said.

Psychotic symptoms in childhood also can be a marker of impaired developmental processes, and are something caregivers should look for, Moffitt said. "There is not much you can do except monitoring and surveillance," Moffitt said. "But we feel we should be alerting clinicians that there's a minority to pay attention to."

While the incidence of psychotic symptoms in this study was around 5 or 6 percent, the adult incidence of schizophrenia is believed to be about 1 percent, Keefe added. There are some recent findings however, that many more people experience hallucinations and delusions without being diagnosed as psychotic, he said.

The research was supported by the U.S. National Institutes of Health, UK Medical Research Council, The National Alliance of Research on Schizophrenia and Depression, the Health Research Board of Ireland and the William T. Grant Foundation.

Journal Reference:

1. Polanczyk et al. Etiological and Clinical Features of Childhood Psychotic Symptoms: Results From a Birth Cohort. Archives of General Psychiatry, 2010; 67 (4): 328 DOI: 10.1001/archgenpsychiatry.2010.14

An international study led by Université de Montréal scientists suggests that gene mutations may predispose some individuals to schizophrenia and provides new clues about the causes of this ambiguous disorder. Published in the Proceedings of the National Academy of Sciences, the findings demonstrate that new mutations in the SHANK3 gene are found in schizophrenic patients.

"That these de novo or new mutations occur in schizophrenia is rather unexpected and may explain why the identification of the genes linked to this disease has been so difficult," says senior author Guy Rouleau, a Université de Montréal professor, director of the Sainte-Justine University Hospital Research Center and a scientist at the Research Centre of the Centre Hospitalier de l'Université de Montréal.

"Our findings show that a significant number of schizophrenia cases are the result of new genetic mutations in the SHANK3 gene. Where previous approaches have failed, our detailed analyses and rich patient database led us to this discovery. We are convinced that future studies will validate the SHANK3 gene as a marker for schizophrenia," continues Dr. Rouleau, who is Canada Research Chair in Genetics of the Nervous System.

Autism and schizophrenia link

"The SHANK3 gene has previously been linked to autism," adds lead author Julie Gauthier, a Université de Montréal researcher. "Not only does this suggest a molecular genetic link between these two neurodevelopmental disorders, it suggests that SHANK3 may have a role in other brain disorders."

SHANK3 is protein involved in maintaining the physical structure of nerve cells. Mutations in this gene result in specific abnormalities in cell shapes. These deformations have been observed in some schizophrenia patients, providing further evidence of the importance of the SHANK3 gene in this disorder.

These findings were made possible through the collaboration of several institutions such as the Harvard Medical School, McGill University and the Université Paris Descartes; please read on for complete list of funders and partners.

About schizophrenia:

Affecting approximately one percent of the population, schizophrenia is a chronic psychiatric disorder characterized by disturbances in thinking, behaviour and emotion. Symptoms include delusions, hallucinations and withdrawal from social activity.

Partners in research:

This study was funded by Genome Canada, Génome Québec, the Université de Montréal and the Canada Foundation for Innovation.

About the study:

The article was coauthored by Julie Gauthier, Nathalie Champagne, Edna Brustein, Mathieu Lapointe, Huashan Peng, Marie-Pierre Dubé, Pierre Drapeau, Philip Awadalla and Guy Rouleau of the Université de Montréal, Fadi F. Hamdan and Mark E. Samuels of the Sainte-Justine University Hospital Research Center; Eric A. Stone of North Carolina State University; Philip A. Barker of the Montreal Neurological Institute; Anjené M. Addington and Judith L. Rapoport of the National Institute of Mental Health; Lynn E. DeLisi of the Harvard Medical School; Marie-Odile Krebs and Fayçal Mouaffak of the Université Paris Descartes; Ferid Fathalli, Ali P. Haghighi and Salvatore Carbonetto of McGill University / McGill University Health Centre; Ridha Joober of the Douglas Mental Health University Institute; Christian Néri of the Centre Paul Broca / INSERM.

Journal Reference:

1. Julie Gauthier, Nathalie Champagne, Ronald G. Lafrenière, Lan Xiong, Dan Spiegelman, Edna Brustein, Mathieu Lapointe, Huashan Peng, Mélanie Côté, Anne Noreau, Fadi F. Hamdan, Anjené M. Addington, Judith L. Rapoport, Lynn E. Delisi, Marie-Odile Krebs, Ridha Joober, Ferid Fathalli, Fayçal Mouaffak, Ali P. Haghighi, Christian Néri, Marie-Pierre Dubé, Mark E. Samuels, Claude Marineau, Eric A. Stone, Philip Awadalla, Philip A. Barker, Salvatore Carbonetto, Pierre Drapeau, Guy A. Rouleau, and the S2D Team. De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. Proceedings of the National Academy of Sciences, 2010; DOI: 10.1073/pnas.0906232107