Featured Research

from universities, journals, and other organizations

Mutations not inherited from parents cause more than half the cases of schizophrenia

Date:
August 8, 2011
Source:
Columbia University Medical Center
Summary:
Researchers have shown that new, or "de novo," protein-altering mutations -- genetic errors that are present in patients but not in their parents -- play a role in more than 50 percent of "sporadic" -- i.e., not hereditary -- cases of schizophrenia.

Columbia University Medical Center researchers have shown that new, or "de novo," protein-altering mutations -- genetic errors that are present in patients but not in their parents -- play a role in more than 50 percent of "sporadic" -- i.e., not hereditary -- cases of schizophrenia.

Related Articles


The findings will be published online on August 7, 2011, in Nature Genetics.

A group led by Maria Karayiorgou, MD, and Joseph A. Gogos, MD, PhD, examined the genomes of patients with schizophrenia and their families, as well as healthy control groups. All were from the genetically isolated, European-descent Afrikaner population of South Africa.

These findings build on earlier studies by Karayiorgou, professor of psychiatry at Columbia University Medical Center. More than 15 years ago, Karayiorgou and her colleagues described a rare de novo mutation that accounts for 1-2 percent of sporadic cases of schizophrenia. With advances in technology, three years ago the Columbia team was able to search the entire genome for similar lesions that insert or remove small chunks of DNA. The mutations found accounted for about 10 percent of sporadic cases.

Encouraged by their progress, they wondered whether other, previously undetectable, de novo mutations accounted for an even greater percentage of sporadic cases. Using state-of-the-art "deep sequencing," they examined the nucleotide bases of almost all the genes in the human genome. This time they found 40 mutations, all from different genes and most of them protein-altering. The results point the way to finding more, perhaps even hundreds, of mutations that contribute to the genetics of schizophrenia -- a necessary step toward understanding how the disease develops.

"Identification of these damaging de novo mutations has fundamentally transformed our understanding of the genetic basis of schizophrenia," says Bin Xu, PhD, assistant professor of clinical neurobiology at Columbia University Medical Center and first author of the study.

"The fact that the mutations are all from different genes," says Karayiorgou, "is particularly fascinating. It suggests that many more mutations than we suspected may contribute to schizophrenia. This is probably because of the complexity of the neural circuits that are affected by the disease; many genes are needed for their development and function." Karayiorgou and her team will now search for recurring mutations, which may provide definitive evidence that any specific mutation contributes to schizophrenia.

The potentially large number of mutations makes a gene-therapy approach to treating schizophrenia unlikely. Researchers suspect, however, that all of the mutations affect the same neural circuitry mechanisms. "Using innovative neuroscience methods," says co-author Dr. Joseph Gogos, MD, PhD, and associate professor of physiology and neuroscience at Columbia University Medical Center, "we hope to identify those neural circuit dysfunctions, so we can target them for drug development."

The study's results also help to explain two puzzles: the persistence of schizophrenia, despite the fact that those with the disease do not tend to pass down their mutations through children; and the high global incidence of the disease, despite large environmental variations.

The study was supported by NIMH, the Lieber Center for Schizophrenia Research at Columbia University, and NARSAD.


Story Source:

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


Journal Reference:

  1. Bin Xu, J Louw Roos, Phillip Dexheimer, Braden Boone, Brooks Plummer, Shawn Levy, Joseph A Gogos, Maria Karayiorgou. Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nature Genetics, 2011; DOI: 10.1038/ng.902

Cite This Page:

Columbia University Medical Center. "Mutations not inherited from parents cause more than half the cases of schizophrenia." ScienceDaily. ScienceDaily, 8 August 2011. <www.sciencedaily.com/releases/2011/08/110807143823.htm>.
Columbia University Medical Center. (2011, August 8). Mutations not inherited from parents cause more than half the cases of schizophrenia. ScienceDaily. Retrieved November 23, 2014 from www.sciencedaily.com/releases/2011/08/110807143823.htm
Columbia University Medical Center. "Mutations not inherited from parents cause more than half the cases of schizophrenia." ScienceDaily. www.sciencedaily.com/releases/2011/08/110807143823.htm (accessed November 23, 2014).

Share This


More From ScienceDaily



More Mind & Brain News

Sunday, November 23, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Could Your Genes Be The Reason You're Single?

Could Your Genes Be The Reason You're Single?

Newsy (Nov. 21, 2014) Researchers in Beijing discovered a gene called 5-HTA1, and carriers are reportedly 20 percent more likely to be single. Video provided by Newsy
Powered by NewsLook.com
Milestone Birthdays Can Bring Existential Crisis, Study Says

Milestone Birthdays Can Bring Existential Crisis, Study Says

Newsy (Nov. 21, 2014) Researchers find that as people approach new decades in their lives they make bigger life decisions. Video provided by Newsy
Powered by NewsLook.com
You Don't Have To Be Alcohol Dependent To Need Treatment

You Don't Have To Be Alcohol Dependent To Need Treatment

Newsy (Nov. 21, 2014) A study by the Centers for Disease Control and Prevention found 9 out of 10 excessive drinkers in the country are not alcohol dependent. Video provided by Newsy
Powered by NewsLook.com
Your Complicated Job Might Keep Your Brain Young

Your Complicated Job Might Keep Your Brain Young

Newsy (Nov. 20, 2014) Researchers at the University of Edinburgh found the more complex your job is, the sharper your cognitive skills will likely be as you age. Video provided by Newsy
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