PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Family studies suggest rare genetic mutations team up to cause schizophrenia

Genome-wide analysis suggests 'no single genetic recipe' for the mental disorder

2013-05-28
(Press-News.org) Using a novel method of analyzing genetic variations in families, researchers at Johns Hopkins have found that individually harmless genetic variations affecting related biochemical processes may team up to increase the risk of schizophrenia. They say their findings, reported May 28 in Translational Psychiatry, bring some clarity to the murky relationship between genetics and schizophrenia, and may lead to a genetic test that can predict which medications will be effective for individual patients.

"It's long been clear that schizophrenia runs in families, but schizophrenia as a simple inherited disease didn't make sense from an evolutionary point of view because people with the disease tend to have fewer children and the disease-causing genetic variants shouldn't survive," says Dimitri Avramopoulos, M.D., Ph.D., an associate professor of psychiatry in the McKusick-Nathans Institute of Genetic Medicine. Moreover, he says, studies searching for schizophrenia-linked gene variants have found only weak connections to a few genes — nothing that would explain the persistent prevalence of the disease, which affects about 1 percent of the population.

Most geneticists believe that the culprit in so-called complex genetic diseases such as schizophrenia is not just one genetic variant, but more than one acting in concert. It's also likely that individual cases of the disease are caused by different combinations of variants, Avramopoulos says. He and fellow researchers took this hypothesis a step further, theorizing that while our bodies can usually compensate for one faulty gene that affects a particular system, more than one hit to the same system is likely to tip people toward disease.

The research team devised a technique for analyzing gene-sequencing data that explores whether variants cluster in a subset of cases in a non-random way. After finding support for their hypothesis in previously obtained data on 123 families with at least two schizophrenia-affected members, they decided to sequence genes connected through a biochemical chain reaction that has been linked to the disease in 48 inpatients. Known as the neuregulin signaling pathway, that chain reaction relays signals within the nervous system.

As they had predicted, the researchers found that some of the families had multiple neuregulin signaling-related variants while others had none, a distribution that was highly unlikely to result from chance. Moreover, the schizophrenia patients with neuregulin signaling variants experienced more hallucinations but less impairment than the other schizophrenia patients in the study.

"These results support the idea that there's no single genetic recipe for schizophrenia, but that a buildup of mutations in a pathway related to the disease — like neuregulin signaling — can be the culprit," Avramopoulos says. "The results are also evidence for the current theory that schizophrenia isn't a single disease at all, but a suite of related disorders." Those patients in the study who did not have neuregulin signaling-related variants likely carried variants in a different pathway instead, he notes.

While the results of the study were surprisingly clear-cut given the small number of families in the study, Avramopoulos cautions that larger studies are needed to confirm the results before drawing any firm conclusions. He also plans to study the exact roles of the schizophrenia-linked variants the team identified. Finally, the encouraging results mean it would be worthwhile to apply the new analytic method to other common diseases, such as diabetes and heart disease, which also appear to have complex genetic roots.

INFORMATION:

Other authors on the study were Alex Hatzimanolis, John A. McGrath, Ruihua Wang, Tong Li, Philip C. Wong, Gerald Nestadt, Paula Wolyniec, David Valle and Ann Pulver, all of the Johns Hopkins University School of Medicine.

The study was funded by the National Institute of Mental Health (grant numbers R01MH057314, R01MH068406, R01MH092515 and R01MH085018) and the Johns Hopkins Brain Science Institute.

Related stories:

Johns Hopkins Researchers Discover New Schizophrenia Gene: http://www.hopkinsmedicine.org/news/media/releases/Johns_Hopkins_Researchers_Discover_New_Schizophrenia_Gene

A Schizophrenia Risk Gene?: http://www.hopkinsmedicine.org/news/publications/psychiatry_newsletter/hopkins_brainwise___spring_2012/a_schizophrenia_risk_gene

New Evidence Ties Gene to Alzheimer's: http://www.hopkinsmedicine.org/news/media/releases/new_evidence_ties_gene_to_alzheimers

The Genome Explosion: http://www.hopkinsmedicine.org/geneticmedicine/news/NewsletterStories/2010_03/2010_03_feature_CIDR.html

END



ELSE PRESS RELEASES FROM THIS DATE:

African-Americans experience longer delays between diagnosis and treatment of prostate cancer

2013-05-28
Among men with prostate cancer, African Americans experience longer treatment delays after being diagnosed than Caucasians. That is the finding of an analysis published early online in CANCER, a peer-reviewed journal of the American Cancer Society. The study suggests that efforts are needed to reduce racial disparities in prostate cancer care in order to provide earlier treatment for African Americans. To see if there is a difference in the time from cancer diagnosis to initiation of treatment for African American men compared with Caucasian men with prostate cancer, ...

Findings may help overcome hurdle to successful bone marrow transplantation

2013-05-28
Blood diseases such as leukemia, multiple myeloma, and myelodysplasia can develop from abnormal bone marrow cells and a dysfunctional bone marrow microenvironment that surrounds these cells. Until now, researchers have been unable to replace the cells that make up the bone marrow microenvironment. Researchers reporting in the May 28 issue of the Cell Press journal Developmental Cell have found that eliminating a gene in the cells found in this microenvironment causes them to die, therefore enabling donor cells to replace them. In addition to providing a better understanding ...

Engineered stem cell advance points toward treatment for ALS

2013-05-28
MADISON, Wis. — Transplantation of human stem cells in an experiment conducted at the University of Wisconsin-Madison improved survival and muscle function in rats used to model ALS, a nerve disease that destroys nerve control of muscles, causing death by respiratory failure. ALS (amyotrophic lateral sclerosis) is sometimes called "Lou Gehrig's disease." According to the ALS Association, the condition strikes about 5,600 Americans each year. Only about half of patients are alive three years after diagnosis. In work recently completed at the UW School of Veterinary ...

Dealing with 'crap' to improve water quality

2013-05-28
RIVERSIDE, Calif. (http://www.ucr.edu) — To better understand how bacteria impact the environment a former University of California, Riverside graduate student spent nearly a year building a system that replicates a human colon, septic tank and groundwater and "fed" the colon three times a day during weeklong experiments to simulate human eating. Ian Marcus, who recently earned his Ph.D. from the UC Riverside Bourns College of Engineering, said discussion of the research often left people a bit perplexed. "People would give a kind-of-interested-but-definitely-don't-talk-about-it-during-dinner ...

White Mountains hikers often underprepared

2013-05-28
PROVIDENCE, R.I. [Brown University] — Hikers in New Hampshire's White Mountain National Forest often hit the trail less prepared than they should be, according to a study that gauged readiness by how many of 10 essential items the hikers brought along. Young and inexperienced hikers were most likely to lack multiple items recommended by the State of New Hampshire's HikeSafe program, according to a paper in press at the journal Wilderness & Environmental Medicine. Hikers were also less likely to prepare fully if they were planning a short hike, even though those can quickly ...

Cold climate wind energy showing huge potential

2013-05-28
Wind energy capacity is growing rapidly in the cold climates of the world. According to the latest forecasts, between 45 and 50 gigawatts of wind energy will be built in cold climates by 2017, which would mean an increase of as much as 72 per cent since the end of 2012 and investments amounting to approximately EUR 75 billion. "This is a huge opportunity," says Research Scientist Tomas Wallenius from VTT Technical Research Centre of Finland. "There has been a lot of talk about the potential of offshore wind power, but the market for cold climate wind energy is more than ...

The analysis of medical images is improved to facilitate the study of psychotic disorders

2013-05-28
A team of researchers from the UPNA/NUP-Public University of Navarre has developed new superresolution and segmentation methods for magnetic resonance images so that they can be applied to the structural study of psychosis. The aim is to be able to identify the differences that are produced in specific parts of the brain in psychotic patients with respect to their healthy relatives or other people. The project, run in coordination with doctors in the Psychiatry and Radiology Service of the ComplejoHospitalarioof Navarre, is based on the study of medical images obtained ...

Decoding the genome of the camel

2013-05-28
Camels are divided into two species, the one-humped dromedary and the two-humped Bactrian camel. Whether equipped with one or two humps, camels are precious in desert regions throughout the world. Their ability to carry heavy loads over long distances makes them ideally suited for transportation. In addition, camels are able to survive for weeks in hostile environments without food and water. Despite the extremely arid conditions, camels still provide enough milk for human consumption and also have an important role as a source of meat. Camels are specialists when it comes ...

Aspirin triggered resolvin protects against cognitive decline after surgery

2013-05-28
Resolvins are molecules naturally produced by the body from omega-3 fatty acids – a process that can be jumpstarted by common aspirin. In a new study, published in The FASEB Journal, researchers at Karolinska Institutet describe how resolvins could protect against the cognitive impairment that often affects recovery of surgical and critically ill patients. The study adds new knowledge on how peripheral surgery affects the brain and neuronal function contributing to the processes of cognitive decline. Hospitalization for surgery or critical illness can lead to cognitive ...

Study explores atmospheric impact of declining Arctic sea ice

2013-05-28
There is growing recognition that reductions in Arctic sea ice levels will influence patterns of atmospheric circulation both within and beyond the Arctic. New research in the International Journal of Climatology explores the impact of 2007 ice conditions, the second lowest Arctic sea ice extent in the satellite era, on atmospheric circulation and surface temperatures. Two 30-year simulations, one using the sea ice levels of 2007 and another using sea ice levels at the end of the 20th century, were used to access the impact of ice free seas. The results showed a significant ...

LAST 30 PRESS RELEASES:

New strategies to enhance chiral optical signals unveiled

Cambridge research uncovers powerful virtual reality treatment for speech anxiety

2025 Gut Microbiota for Health World Summit to spotlight groundbreaking research

International survey finds that support for climate interventions is tied to being hopeful and worried about climate change

Cambridge scientist launches free VR platform that eliminates the fear of public speaking

Open-Source AI matches top proprietary model in solving tough medical cases

Good fences make good neighbors (with carnivores)

NRG Oncology trial supports radiotherapy alone following radical hysterectomy should remain the standard of care for early-stage, intermediate-risk cervical cancer

Introducing our new cohort of AGA Future Leaders

Sharks are dying at alarming rates, mostly due to fishing. Retention bans may help

Engineering excellence: Engineers with ONR ties elected to renowned scientific academy

New CRISPR-based diagnostic test detects pathogens in blood without amplification

Immunotherapy may boost KRAS-targeted therapy in pancreatic cancer

Growing solar: Optimizing agrivoltaic systems for crops and clean energy

Scientists discover how to reactivate cancer’s molecular “kill switch”

YouTube influencers: gaming’s best friend or worst enemy?

uOttawa scientists use light to unlock secret of atoms

NJIT mathematician to help map Earth's last frontier with Navy grant

NASA atmospheric wave-studying mission releases data from first 3,000 orbits

‘Microlightning’ in water droplets may have sparked life on Earth

Smoke from wildland-urban interface fires more deadly than remote wildfires

What’s your body really worth? New AI model reveals your true biological age from 5 drops of blood

Protein accidentally lassos itself, helping explain unusual refolding behavior

With bird flu in raw milk, many in U.S. still do not know risks of consuming it

University of Minnesota research team awarded $3.8 million grant to develop cell therapy to combat Alzheimer’s disease

UConn uncovers new clue on what is leading to neurodegenerative diseases like Alzheimer’s and ALS

Resuscitation in out-of-hospital cardiac arrest – it’s how quickly it is done, rather than who does it

A closer look at biomolecular ‘silly putty’

Oxytocin system of breastfeeding affected in mothers with postnatal depression

Liquid metal-enabled synergetic cooling and charging: a leap forward for electric vehicles

[Press-News.org] Family studies suggest rare genetic mutations team up to cause schizophrenia
Genome-wide analysis suggests 'no single genetic recipe' for the mental disorder