Researchers discover new schizophrenia gene

February 3, 2009

Researchers at the Johns Hopkins University School of Medicine are one gene closer to understanding schizophrenia and related disorders. Reporting in the Jan. 9 issue of the American Journal of Human Genetics, the team describes how a variation in the neuregulin 3 gene influences delusions associated with schizophrenia.

"Neuregulin 3 is clearly one more gene to add to the few currently known to contribute to schizophrenia," says David Valle, M.D., director of the McKusick-Nathans Institute of Genetic Medicine at Hopkins. "There's much more to do, but we're making progress."

Schizophrenia is a varied condition with a number of symptoms not shared by all affected. This could be one reason why it's been difficult to identify genes that contribute to the condition.

To address this, the team first rigorously separated the 73 different symptoms into nine distinct factors associated with the condition—prodromal, negative, delusion, affective, scholastic, adolescent sociability, disorganization, disability, hallucination.

Then, using genetic samples from more than 450 people with schizophrenia and their parents as well as unrelated non-affected people for comparison, the team focused on one region of chromosome 10 that previously had been implicated to contain genes that contribute to the condition. They analyzed more than 1,400 single nucleotide polymorphisms, or SNPs for short, to see if any particular SNPs were more frequently carried by schizophrenia patients than unaffected people.

They found three SNPs strongly associated with delusions, and all three SNPs are located in the neuregulin 3 gene. In fact, of the team's top 20 most significant SNPs, 13 of them are located at or near this gene, but rather than being associated with delusion, the other SNPs are associated with scholastic, disorganization and hallucination factors.

"Neuregulin 3 makes sense because it's turned on mostly in the central nervous system, and the related gene neuregulin 1 also has been shown to be associated with schizophrenia," says Dimitrios Avramopoulos, M.D., Ph.D., an associate professor of psychiatry and member of the Institute of Genetic Medicine.

"We're still at the stage of trying to understand the disease, figuring out what goes wrong in the brain," says Avramopoulos who adds that the next step for this team is to follow up and sequence the neuregulin 3 gene from a number of the patients in this study to look for rare genetic variants that might also contribute to the condition.

On the web: www.cell.com/AJHG/home

Source: Johns Hopkins Medical Institutions

Explore further: Neurological disease in mice and humans linked to an unlikely gene

Related Stories

Neurological disease in mice and humans linked to an unlikely gene

February 1, 2018
Screening for mutations influencing the migration of nerve cells in mice, scientists found a gene that plays a role in the transport of proteins within nerve cells. If less of the protein is present in the developing mouse, ...

Study points to immune system's role in neural development

February 2, 2018
Between the ages of two and four, the human brain has an estimated one quadrillion synapses – the electrical connections between neurons. As we age, pruning out extraneous synapses enables existing ones to run more efficiently ...

Brain's immune system may be key to better treatments for psychiatric disorders

January 4, 2018
Between the ages of two and four, the human brain has an estimated one quadrillion synapses – the electrical connections between neurons. That is the highest it will ever have, but as the world is not run by 3-year-olds, ...

Epidemic of opioid abuse is top health story of 2017

December 28, 2017
(HealthDay)—The millions of Americans caught in the grip of an addiction to opioids—prescription painkillers or heroin—remained the leading health news story of the past year.

Family study emphasizes distinct origins for bipolar disorder subtypes

January 10, 2018
The most common subtypes of bipolar disorder, bipolar I and bipolar II, stem—at least in part—from different biological causes, according to a new study published in Biological Psychiatry. Despite genetic overlap between ...

Psychosis incidence highly variable internationally

December 6, 2017
Rates of psychosis can be close to eight times higher in some regions compared to others, finds a new study led by researchers at UCL, King's College London and the University of Cambridge.

Recommended for you

Add broken DNA repair to the list of inherited colorectal cancer risk factors

February 23, 2018
An analysis of nearly 3,800 colorectal cancer patients—the largest germline risk study for this cancer to date—reveals opportunities for improved risk screening and, possibly, treatment.

Team identifies genetic defect that may cause rare movement disorder

February 22, 2018
A Massachusetts General Hospital (MGH)-led research team has found that a defect in transcription of the TAF1 gene may be the cause of X-linked dystonia parkinsonism (XDP), a rare and severe neurodegenerative disease. The ...

Defects on regulators of disease-causing proteins can cause neurological disease

February 22, 2018
When the protein Ataxin1 accumulates in neurons it causes a neurological condition called spinocerebellar ataxia type 1 (SCA1), a disease characterized by progressive problems with balance. Ataxin1 accumulates because of ...

15 new genes identified that shape human faces

February 20, 2018
Researchers from KU Leuven (Belgium) and the universities of Pittsburgh, Stanford, and Penn State have identified 15 genes that determine facial features. The findings were published in Nature Genetics.

New algorithm can pinpoint mutations favored by natural selection in large sections of the human genome

February 20, 2018
A team of scientists has developed an algorithm that can accurately pinpoint, in large regions of the human genome, mutations favored by natural selection. The finding provides deeper insight into how evolution works, and ...

New software helps detect adaptive genetic mutations

February 20, 2018
Researchers from Brown University have developed a new method for sifting through genomic data in search of genetic variants that have helped populations adapt to their environments. The technique, dubbed SWIF(r), could be ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.