Navigation Links
CSHL-led team discovers rare mutation dramatically increasing schizophrenia risk
Date:10/25/2009

An international team of researchers led by geneticist Jonathan Sebat, Ph.D., of Cold Spring Harbor Laboratory (CSHL), has identified a mutation on human chromosome 16 that substantially increases risk for schizophrenia.

The mutation in question is what scientists call a copy number variant (CNV). CNVs are areas of the genome where the number of copies of genes differs between individuals. The CNV is located in a region referred to by scientists as 16p11.2. By studying the genomes of 4,551 patients and 6,391 healthy individuals, Sebat's team has shown that having one extra copy of this region is associated with schizophrenia. The study appears online today ahead of print in the journal Nature Genetics.

The mutation identified in this study is a potent risk factor. "In the general population this duplication is quite rare, occurring in roughly one in 5,000 persons", says Sebat, "but for people that carry the extra copy, the risk of developing schizophrenia is increased by more than eight-fold". This finding is the latest in a series of studies that have pinpointed rare CNVs that confer substantial risk of schizophrenia. Others include deletions on chromosomes 1, 15 and 22.

Schizophrenia and autism: two sides of the same coin?

"This is not the first time that the 16p11.2 region has caught our eye," says Sebat. It was previously spotted in a 2007 study with Professor Michael Wigler at CSHL -- a deletion of the identical region was identified in a girl with autism. Studies by several other groups have shown that losing one copy of 16p11.2 confers high risk of autism and other developmental disorders in children.

Taken together these studies suggest that some genes are shared between schizophrenia and autism, according to Sebat and colleagues. "In some ways, we might consider the two disorders to be at opposite ends of the same neurobiological process" says Shane McCarthy, Ph.D., the lead author of the study, "and this process is influenced by the copy number of genes on chromosome 16." One hypothesis is that the loss of 16p11.2 leads to the deprivation of key genes involved in brain development, while an extra copy of this region might have the opposite effect.

A correlation between 16p11.2 mutations and head size

It is not known what biological processes are affected by the copy number of 16p11.2, Sebat notes. He believes, however, that the team may have stumbled on to an important clue. By studying the clinical records of patients, they discovered that patients with deletions of the region differ significantly in head size from those with duplications of the same region. Sebat reports, "Head circumference of patients with the deletion were larger than average by more than one standard deviation. Head circumference was slightly below average in patients with the duplication." These findings, he notes, are consistent with some previous studies that have observed a trend towards larger brain size in autism and an opposite trend toward smaller brain size in schizophrenia.


'/>"/>

Contact: Peter Tarr
tarr@cshl.edu
516-367-8455
Cold Spring Harbor Laboratory
Source:Eurekalert

Related biology news :

1. CSHL-led team identifies key decision-point at which cells with broken DNA repair themselves or die
2. Case Western Reserve University discovers Merkel cell originates from skin, not the neural crest
3. IU discovers stone tools, rare animal bones -- clues to Caribbeans earliest inhabitants
4. La Jolla Institute discovers novel tumor suppressor
5. NTU professor discovers method to efficiently produce less toxic drugs using organic molecules
6. Biologist discovers pink-winged moth in Chiracahua Mountains
7. UCSF discovers new glucose-regulating protein linked with diabetes
8. Stowers Institutes Workman Lab discovers novel histone demethylase protein complex
9. Texas A&M anthropologist discovers long-lost primate in Indonesia
10. International team discovers gene associated with epilepsy
11. UCR graduate student discovers, names bacterium linked to psyllid yellows
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/20/2016)... 2016   Valencell , the leading innovator ... STMicroelectronics (NYSE: STM), a global semiconductor leader serving ... today the launch of a new, highly accurate ... includes ST,s compact SensorTile turnkey multi-sensor ... sensor system. Together, SensorTile and Benchmark deliver the ...
(Date:12/16/2016)... 2016 Research and Markets has announced the ... Forecast to 2021" report to their offering. ... The biometric vehicle access system ... CAGR of 14.06% from 2016 to 2021. The market is estimated ... reach 854.8 Million by 2021. The growth of the biometric vehicle ...
(Date:12/15/2016)... , Dec. 15, 2016   WaferGen Bio-systems, Inc. ... genomics technology company, announced today that on December 13, ... Department of The Nasdaq Stock Market LLC which acknowledged ... price of WaferGen,s common stock had been at $1.00 ... has regained compliance with Listing Rule 5550(a)(2) of the ...
Breaking Biology News(10 mins):
(Date:1/19/2017)... ... January 19, 2017 , ... ... the full spectrum of drug and device development, and Prism Clinical Research ... and clinicians, today announced Verified Clinical Trials (VCT) has been selected ...
(Date:1/19/2017)... Jan. 18, 2017 Acupath Laboratories, Inc., a ... formation of an Executive Committee that will guide the ... John Cucci , a 15-year veteran of ... of Business Development to Chief Sales Officer .  ... served in senior sales leadership roles at several leading ...
(Date:1/18/2017)... According to a new market research report "In situ ... & End User (Molecular Diagnostic Laboratories, Academic and Research Institutions) - Global Forecast ... Million by 2021 from USD 557.1 Million in 2016, growing at a CAGR ... ... MarketsandMarkets Logo ...
(Date:1/18/2017)... , Jan. 18, 2017   Parent Project Muscular ... to end Duchenne muscular dystrophy (Duchenne) , today ... New Jersey Institute of Technology (NJIT) and Talem Technologies ... of robotic technology to assist people living with ... NJIT,s technology – an embedded computer, software, a force ...
Breaking Biology Technology: