Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Discovery of new gene mutation in schizophrenia offers a new target for drug therapies

24.02.2011
Newly identified gene mutation has potential for the development of more effective treatment of Schizophrenia

In a major advance for schizophrenia research, an international team of scientists led by the University of California, San Diego School of Medicine and involving Trinity College Dublin researchers has identified a gene mutation strongly linked to schizophrenia that may be an important new target for the development of drug therapies. The findings are just published in the online issue of the journal Nature.

Schizophrenia is a chronic, severe and disabling brain disorder, with symptoms that include hallucinations, delusions and thought disorder. Schizophrenia is believed to be caused by environmental and genetic factors, most notably the latter: the illness occurs in 1% of the general population, or 10 % of people who have a first-degree relative with the disorder, such as a parent or sibling. Current therapies are only partially effective with little progress being made in identifying effective new treatments over several decades.

In the last three years researchers have discovered that rare mutations at many locations in the human genome resulted in significantly higher risk of schizophrenia. These mutations consisted of copy number variants or CNVs −a type of genetic variation in which the number of copies of a gene differs between individuals. The findings were the first conclusive evidence that rare mutations can cause schizophrenia, but this did not identify the specific genes involved.

Professor Aiden Corvin of the Psychosis Research Group at Trinity College Dublin, funded by Science Foundation Ireland and the Wellcome Trust, and an author on this paper, describes that the latest study goes substantially further.

Researchers scanned for CNVs in the genomes of 8,290 individuals with diagnosed cases of schizophrenia and 7,431 healthy controls. The study confirmed CNVs identified in earlier studies, but uncovered an important new finding: duplications at the tip of chromosome 7q were detected in individuals with schizophrenia at a rate 14 times higher than in healthy individuals. These duplications impact a gene coding for the brain receptor VIPR2.

Formally known as the Vasoactive Intestinal Peptide Receptor 2, VIPR2 is expressed in the nervous system, including in the brain, blood vessels and gastrointestinal tract. Previous studies have shown that VIPR2 helps to regulate the formation and activity of neurons in the brain. In mice, VIPR2 also has been found to play important roles in behavioral processes, including learning and timing of daily activity. The study next measured expression of the VIPR2 gene in blood cells from patients, they found that individuals with mutations had greater expression of VIPR2 and greater activity of the receptor.

"This suggests that the mutations increase signaling in the Vasoactive Intestinal Peptide pathway," says Professor Corvin. "We know that this activity can be modulated by synthetic peptides (compounds where amino acids are linked together) and the next step is to see if these compounds have a therapeutic effect in mice or in cultured human cells that carry the VIPR2 gene mutation."

The Psychosis Research Group at Trinity College Dublin were involved in the study design, analysis and data interpretation. Irish patients and their families from Trinity teaching hospitals contributed to the original test sample of 802 cases and 742 controls (along with participants from Columbia University, Harvard, NYU, McLean and University of Washington medical teaching hospitals). The larger replication set of approximately 8,290 cases and controls also included Irish participants.

The global collaborative research was led by assistant professor of psychiatry and cellular and molecular medicine, Jonathan Sebat, at the University of California, San Diego School of Medicine.

Caoimhe Ní Lochlainn | EurekAlert!
Further information:
http://www.tcd.ie

More articles from Life Sciences:

nachricht Flow of cerebrospinal fluid regulates neural stem cell division
21.05.2018 | Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt

nachricht Chemists at FAU successfully demonstrate imine hydrogenation with inexpensive main group metal
21.05.2018 | Friedrich-Alexander-Universität Erlangen-Nürnberg

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Explanation for puzzling quantum oscillations has been found

So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics

Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...

Im Focus: Dozens of binaries from Milky Way's globular clusters could be detectable by LISA

Next-generation gravitational wave detector in space will complement LIGO on Earth

The historic first detection of gravitational waves from colliding black holes far outside our galaxy opened a new window to understanding the universe. A...

Im Focus: Entangled atoms shine in unison

A team led by Austrian experimental physicist Rainer Blatt has succeeded in characterizing the quantum entanglement of two spatially separated atoms by observing their light emission. This fundamental demonstration could lead to the development of highly sensitive optical gradiometers for the precise measurement of the gravitational field or the earth's magnetic field.

The age of quantum technology has long been heralded. Decades of research into the quantum world have led to the development of methods that make it possible...

Im Focus: Computer-Designed Customized Regenerative Heart Valves

Cardiovascular tissue engineering aims to treat heart disease with prostheses that grow and regenerate. Now, researchers from the University of Zurich, the Technical University Eindhoven and the Charité Berlin have successfully implanted regenerative heart valves, designed with the aid of computer simulations, into sheep for the first time.

Producing living tissue or organs based on human cells is one of the main research fields in regenerative medicine. Tissue engineering, which involves growing...

Im Focus: Light-induced superconductivity under high pressure

A team of scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg investigated optically-induced superconductivity in the alkali-doped fulleride K3C60under high external pressures. This study allowed, on one hand, to uniquely assess the nature of the transient state as a superconducting phase. In addition, it unveiled the possibility to induce superconductivity in K3C60 at temperatures far above the -170 degrees Celsius hypothesized previously, and rather all the way to room temperature. The paper by Cantaluppi et al has been published in Nature Physics.

Unlike ordinary metals, superconductors have the unique capability of transporting electrical currents without any loss. Nowadays, their technological...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Save the date: Forum European Neuroscience – 07-11 July 2018 in Berlin, Germany

02.05.2018 | Event News

Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"

13.04.2018 | Event News

Unique scope of UV LED technologies and applications presented in Berlin: ICULTA-2018

12.04.2018 | Event News

 
Latest News

Supersonic waves may help electronics beat the heat

18.05.2018 | Power and Electrical Engineering

Keeping a Close Eye on Ice Loss

18.05.2018 | Information Technology

CrowdWater: An App for Flood Research

18.05.2018 | Information Technology

VideoLinks
Science & Research
Overview of more VideoLinks >>>