Featured Research

from universities, journals, and other organizations

Rates Of Rare Mutations Soar Three To Four Times Higher In Schizophrenia

Date:
March 28, 2008
Source:
University of Washington
Summary:
Researchers have uncovered genetic errors that may shed light on the causes of schizophrenia. The scientists found that deletions and duplications of DNA are more common in people with the mental disorder, and that many of those errors occur in genes related to brain development and neurological function.

In a major step toward solving the puzzle of schizophrenia, researchers have found that deletions and duplications of DNA are more common in people with the mental disorder, and that many of those errors occur in genes related to brain development and neurological function.
Credit: iStockphoto/Kiyoshi Takahase Segundo

A team of researchers at the University of Washington and Cold Spring Harbor Laboratories has uncovered genetic errors that may shed light on the causes of schizophrenia. The scientists found that deletions and duplications of DNA are more common in people with the mental disorder, and that many of those errors occur in genes related to brain development and neurological function.

Related Articles


Schizophrenia, a debilitating psychiatric disorder, affects approximately 1 percent of the population. People with schizophrenia suffer from hallucinations, delusions, and disorganized thinking, and are at risk for unusual or bizarre behaviors. The illness greatly impacts social and occupational functioning and has enormous public health costs.

The team of investigators, led by Tom Walsh, Jon McClellan, and Mary-Claire King at the UW, and Shane McCarthy and Jonathan Sebat at Cold Spring Harbor, examined whether the genetic errors, which are individually rare DNA deletions and duplications, contribute to the development of schizophrenia. The findings, which were replicated by a team at the National Institute of Mental Health, appear in the March 27 online edition of the journal Science.

Some deletions and duplications are common and found in all humans. The researchers studied such mutations that were found only in individuals with the illness, and compared them to mutations found only in healthy persons. They theorized that rare mutations found only in schizophrenic patients would be more likely to disrupt genes related to brain functioning and thus may cause schizophrenia.

The study was conducted using DNA from 150 people with schizophrenia and 268 healthy individuals. The investigators found rare deletions and duplications of genes present in 15 percent of those with schizophrenia, versus only 5 percent in the healthy controls. The rate was even higher in patients whose schizophrenia first presented at a younger age, with 20 percent of those patients having a rare mutation.

The results were replicated by a second research team, led by Anjene Addington and Judith Rapoport at the National Institutes of Mental Health. They found a higher rate of rare duplications or deletions in patients whose schizophrenia began before age 12 years, a very rare and severe form of the disorder.

In individuals with schizophrenia, mutations were more likely to disrupt signaling genes that help organize brain development. Each mutation was different, and impacted different genes. However, several of the disrupted genes function in related neurobiological pathways.

The findings suggest that schizophrenia is caused by many different mutations in many different genes, with each mutation leading to a disruption in key pathways important to a developing brain. Once a disease-causing mutation is identified, other different disease-causing mutations may be found in the same gene in different people with the illness.

Thus, for most cases of schizophrenia, the genetic causes may be different. This observation has important implications for schizophrenia research. Currently, most genetic studies examine for mutations that are shared among different individuals with the illness. These approaches will not work if most patients have different mutations causing their condition.

Fortunately, there are now genomic technologies available that allow researchers to discover rare mutations within each individual with a disorder. As these technologies improve, it will be possible to detect other types of disease-causing mutations. Eventually, the identification of genes disrupted in individuals with schizophrenia will allow the development of new treatments more specifically targeted to disrupted pathways.

The research team included many other scientists at a variety of institutions, including Evan Eichler and his colleagues at the University of Washington, and investigators at the State University of New York at Stony Brook, Case Medical Center in Cleveland, the University of North Carolina, the University of California Los Angeles, the National Cancer Institute, and the National Institute on Aging.

This work was supported by many different grants from several foundations and agencies, including the Forrest C. and Frances H. Lattner Foundation, NARSAD, the Simons Foundation, the Stanley Medical Research Foundation, the Howard Hughes Medical Institute, the National Institute on Aging, the National Institute of Mental Health, and the Mental Health Division of the Washington State Department of Social and Health Services.


Story Source:

The above story is based on materials provided by University of Washington. Note: Materials may be edited for content and length.


Cite This Page:

University of Washington. "Rates Of Rare Mutations Soar Three To Four Times Higher In Schizophrenia." ScienceDaily. ScienceDaily, 28 March 2008. <www.sciencedaily.com/releases/2008/03/080327172352.htm>.
University of Washington. (2008, March 28). Rates Of Rare Mutations Soar Three To Four Times Higher In Schizophrenia. ScienceDaily. Retrieved October 31, 2014 from www.sciencedaily.com/releases/2008/03/080327172352.htm
University of Washington. "Rates Of Rare Mutations Soar Three To Four Times Higher In Schizophrenia." ScienceDaily. www.sciencedaily.com/releases/2008/03/080327172352.htm (accessed October 31, 2014).

Share This



More Mind & Brain News

Friday, October 31, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Studying Effects of Music on Dementia Patients

Studying Effects of Music on Dementia Patients

AP (Oct. 30, 2014) The University of Wisconsin-Milwaukee is studying the popular Music and Memory program to see if music, which helps improve the mood of Alzheimer's patients, can also reduce the use of prescription drugs for those suffering from dementia. (Oct. 30) Video provided by AP
Powered by NewsLook.com
Techy Tots Are Forefront of London's Baby Show

Techy Tots Are Forefront of London's Baby Show

AP (Oct. 28, 2014) Moms and Dads get a more hands-on approach to parenting with tech-centric products for raising their little ones. (Oct. 28) Video provided by AP
Powered by NewsLook.com
Cocoa Could Be As Good For Memory As It Is For A Sweet Tooth

Cocoa Could Be As Good For Memory As It Is For A Sweet Tooth

Newsy (Oct. 27, 2014) Researchers have come up with another reason why dark chocolate is good for your health. A substance in the treat can reportedly help with memory. Video provided by Newsy
Powered by NewsLook.com
Five-Year-Olds Learn Coding as Britain Eyes Digital Future

Five-Year-Olds Learn Coding as Britain Eyes Digital Future

AFP (Oct. 27, 2014) Coding has become compulsory for children as young as five in schools across the UK. Making it the first major world economy to overhaul its IT teaching and put programming at its core. Duration: 02:19 Video provided by AFP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins