Multiple Genes Robustly Contribute to Schizophrenia Risk in Replication Study
Multiple genes contribute to risk for schizophrenia and appear to function in pathways related to transmission of signals in the brain and immunity, according to an international study led by Virginia Commonwealth University School of Pharmacy researchers.
By better understanding the molecular and biological mechanisms involved with schizophrenia, scientists hope to use this new genetic information to one day develop and design drugs that are more efficacious and have fewer side effects.
In a study published online in the April issue of JAMA Psychiatry, the JAMA Network journal, researchers used a comprehensive and unique approach to robustly identify genes and biological processes conferring risk for schizophrenia.
The researchers first used 21,953 subjects to examine over a million genetic markers. They then systematically collected results from other kinds of biological schizophrenia studies and combined all these results using a novel data integration approach.
The most promising genetic markers were tested again in a large collection of families with schizophrenia patients, a design that avoids pitfalls that have plagued genetic studies of schizophrenia in the past. The genes they identified after this comprehensive approach were found to have involvement in brain function, nerve cell development and immune response.
“Now that we have genes that are robustly associated with schizophrenia, we can begin to design much more specific experiments to understand how disruption of these genes may affect brain development and function,” said principal investigator Edwin van den Oord, Ph.D., professor and director of the Center for Biomarker Research and Personalized Medicine in the Department of Pharmacotherapy and Outcomes Science at the VCU School of Pharmacy.
“Also, some of these genes provide excellent targets for the development of new drugs,” he said.
One specific laboratory experiment currently underway at VCU to better understand the function of one of these genes, TCF4, is being led by Joseph McClay, Ph.D., a co-author on the study and assistant professor and laboratory director in the VCU Center for Biomarker Research and Personalized Medicine. TCF4 works by switching on other genes in the brain. McClay and colleagues are conducting a National Institutes of Health-funded study to determine all genes that are under the control of TCF4. By mapping the entire network, they aim to better understand how disruptions to TCF4 increase risk for schizophrenia.
“Our results also suggest that the novel data integration approach used in this study is a promising tool that potentially can be of great value in studies of a large variety of complex genetic disorders,” said lead author Karolina A. Aberg, Ph.D., research assistant professor and laboratory co-director of the Center for Biomarker Research and Personalized Medicine in the VCU School of Pharmacy.
A ‘cloud tsunami’ rolls over Panama City beach
“Meteorologist Dan Satterfield explains this occurrence on his blog:
Cool air offshore was very nearly at the saturation point, with a temperature near 20ºC and a dew point of about 19.5ºC. The air at this temperature can only hold a certain amount of water vapor, and how much it can hold depends heavily on the temperature. If you add more water into the air, a cloud will form, but you can also get a cloud to form by cooling the air. Drop the temperature, and it can no long hold as much water vapor, so some of it will condense out and a cloud will form.”
Powdered eggs could be a cheap alternative to IVF cryopreservation
An Israeli biotechnology company has developed a method for freeze-drying mammalian eggs so they can be stored at room temperature. To revive them for fertilisation and implantation, all you’d need to do is add water.
Core Dynamics’ technique, developed by Amir Arav, has already proven successful in cow eggs, with 23 out of 30 confirmed viable after being rehydrated, reports the New Scientist. According to the company’s website the technique has also successfully been trialled on white blood cells and stem cells, potentially paving the way for cheaper and securer storage and transportation of medical materials that would ordinarily need to be kept in liquid nitrogen.
As with cryopreservation, Core Dynamics first vitrifies the eggs, a technique which involves rapidly cooling them to avoid ice crystalisation. Ice crystals can seriously damage cell membranes rendering the eggs useless, but Arav avoids this by taking inspiration from wood frogs, which can survive in winter with 35 to 45 percent of their body turned to ice.
He bathes the eggs in a solution that includes sugar trehalose, one of the substances that protects the frogs, and ensures no water molecules are trapped in the cell. The eggs are then stored in low pressure at -55 degrees Celsius for a day, Arav tells the New Scientist. Any remaining water turns to gas and the eggs transform into a kind of powder form that can survive indefinitely if stored in a dark vacuum.
Key to the whole experiment, Core Dynamics does not yet now whether the eggs can be successfully fertilised once water’s added and they’re rehydrated. Confirming the egg as viable is not an assurance that the procedure will work. Currently, the best way to ensure successful fertilisation of cryopreserved eggs is to fertilise them before they go in the deep freeze. This usually happens when a woman undergoes IVF and the “spare” embryos not immediately implanted are cryopreserved.
Freezing just the eggs has only recently been deemed “no longer experimental” in the US, with data collected by the American Society of Reproductive Medicine in 2012 revealing they have a fertilisation rate of between 71 and 79 percent and a pregnancy success of between 36 and 61 percent. In the UK NHS guidelines still refer to the process as experimental and put success rates at under 10 percent.
When success rates are higher, freeze-drying could prove an effective and cost efficient way of providing more people with a chance of conceiving. But until then, freeze drying other organic materials for safe and cheap transportation might be the first uses we see for the technique.
This post has been featured on a 1000notes.com blog.
Sometimes i forget scallops swim like this its fuckin hilarious
I thought that was just another one of those cartoon logic jokes in spongebob…
TINY TURTLE INVESTIGATORS: THE CASE OF THE LARGE STRAWBERRY
GOOD MORNING EVERYONE
“HAVE YOU TRIED BALANCING ON IT”
“YES OF COURSE I TRIED BALANCING ON IT JENKINS THIS IS NOT MY FIRST DAY AS A TINY TURTLE INVESTIGATOR”