Schizophrenia: Researchers Pinpoint Rare Genetic Risk Variants

The research team - comprised of more than 260 scientists across the globe - recently reported their findings in the journal Nature Genetics.

Schizophrenia is a chronic mental disorder characterized by delusions, hallucinations, abnormal thoughts, and agitated body movements.

According to the World Health Organization (WHO), more than 21 million people worldwide are affected by schizophrenia, with the disorder being more common among males than females.

In the United States, schizophrenia is estimated to affect around 3.5 million people, making it one of the leading causes of disability in the country.

In recent years, researchers have been learning more about the genetic causes of schizophrenia. Earlier this year, for example, Medical News Today reported on a study revealing how a variant of a gene called C4 contributes to schizophrenia development. 

Eight genomic regions hold mutations linked to schizophrenia

The team searched the genomes of 41,321 individuals, of whom 21,094 had schizophrenia and 20,227 did not.

The researchers identified eight regions of the genome that possess mutations called "copy number variations" (CNVs) that are associated with increased risk of schizophrenia. In other words, these mutations are significantly more common in people with schizophrenia than those in the general population.

CNVs are copies or deletions of DNA sequences that can affect normal gene functioning, increasing the risk of certain diseases and disorders.

In this study, the CNVs identified by the researchers were shown to increase the risk of schizophrenia development by four- to 60-fold.
 
What is more, these CNVs were found to be more common among genes that play a role in the function of synapses - the structures that connect nerve cells, or neurons, and transmit chemical signals.

The researchers note that only a small percentage of study subjects had the schizophrenia-associated CNVs - around 1.4 percent - showing that these mutations are rare.

Further analyses are needed in order to uncover more rare genetic variants that may increase the risk of schizophrenia, the researchers note, but the current research has made a strong start.

"This study represents a milestone that demonstrates what large collaborations in psychiatric genetics can accomplish.

We're confident that applying this same approach to a lot of new data will help us discover additional genomic variations and identify specific genes that play a role in schizophrenia and other psychiatric conditions."

Jonathan Sebat, Ph.D.

Gene-Edited Dogs

Dogs are very unique creatures. There are many kinds that range in size and personality; and yet they have become man's closest companion. Dogs serve many purposes in society from being a close friend to someone in need to fighting alongside a warrior in battle. Today, they also serve an investigative scientific purpose.

Liangxue Lai, a researcher and Regenerative Biologist, is studying dogs for the purpose of medical research in human diseases such as Parkinson's and muscle dystrophy. Lai recently conducted an interesting experiment. He took 60 Beagle embryos, and only 27 of them were born. Two out of the 27 puppies had gene-edited DNA using the CRISPR/Cas9 mechanism, where the gene that produced myostatin was disrupted. Myostatin is a muscle growth inhibitor. Only one of those two puppies (Tiangou) exhibited the gene-editing effect though, growing twice as large in muscle mass as the others.  According to Lai, the goal of the experiment was to cause muscle diseases in these Beagles and observe the correlation to human muscular illnesses for biomedical research.

I hope Lai and his colleagues gain a greater understanding of muscular diseases through their experiments. I find this study very interesting. I do not agree with creating gene-edited species, however. I understand I am not a biomedical researcher, nor do I know of the prevalent medical issues or how they can be solved; but today I am witnessing scientists seeking to alter life from the way it was previously designed.


Main Article: Genetically Engineered Dogs

Other Article: Gene Editing from Nature

Turtles, Dinosaurs, and The New Group Archelosauria

For decades the placement of turtles in its phylogenetic tree with respect to lizards, snakes, dinosaurs, and birds has been debated. Prior methods mostly involved digging up ancient fossil turtles and looking at physical features, a fairly unaccurate and speculatory method. However, with new genomic sequencing methods, a phylogenetic tree of turtles has been put together debunking old truths, and even creating a new group in its own.

Researchers with the California Academy of Sciences along with other scientists finally tackled the turtle phylogenetic tree problem with a new sequencing method known as UCE, which stands for Ultra Conserved Elements. Using this new method, researchers were able to obtain large quantities of comprehensive genomic data and compare this to genomic data of other species. The results were astounding. Researchers debunked the notion that turtles and tortoises were more closely related to lizards and snakes than anything. Instead, researchers found that their closes relatives actually fall within birds, crocodiles, and dinosaurs. This calls for a creation of a new group, which they dubbed  Archelosauria.
Prior theorized phylogeny of turtles did not match the fossil record or archeological timelines. Now, however, with the use of the Ultra Conserved Elements techniques, the phylogeny of turtles placed within the group Archelosauria not only matches evidence found in the fossil record, but also archeological timelines. This changes the face of research for Evolutionary Biologists studying reptiles. This cutting edge technology was able to clarify a decades old problem and is a testament to how genomic sequencing techniques are improving at an exponential rate. This provides great optimism for future work in the evolution of ancient creatures.

Article Source: http://www.sciencedaily.com/releases/2014/11/141124103225.htm
Additional Source: http://www.mnn.com/earth-matters/animals/stories/turtles-more-closely-related-to-birds-than-to-lizards-according-to

Do You Know Why Polar Bears Can Stay Warm?

Ever wonder how Polar Bears stay warm in such frigid temperatures? Well with recent research it has proven that not only have polar bears been able to adapt to their environment, but so has their genes. In this news article, genomic researcher Charlotte Lindqvist, found that polar bears have a gene function which produces Nitric Oxide. For those of you that do not know the role of nitric oxide production, it is a very good signalling molecule. It allows for the cells of the polar bears to convert their food source into energy. For these polar bears, the energy source that they get from Nitric Oxide is heat. According to Charlotte Lindqvist , this is known as adaptive thermogenisis, and it is very useful to these animals. This mechanism is great for the harsh and cold wintry conditions in which these animals have to withstand. Research proved that the genes in brown and black bears differ from the genes of a Polar Bears, and that is why brown and black bears have to hibernate during the winter months. They differ from all the other bear species because this Nitric Oxide production gene that allows the polar bears to undergo adaptive thermogenisis, lacks in brown and black bears.There are a great amount of genes that can convert food source into energy,but to be able to produce heat as their main energy source is what makes theses polar bears so different and interesting.This genetic discovery in polar bears is fascinating to me , and it answers the question, as to why polar bears can stay warm. With that said, I can conclude that polar bears have gone through adaptation, specifically genetic adaptation. Genetic adaption can be defined as a mechanism that changes so that it is more suitable for the subject of interest, and that is exactly what happened to the polar bears. Adaption is key to all living things, and these Polar Bears have seemed to have mastered it!