Genetic Origin of Schizophrenia Find Common Ground

 

   

Two recent studies have shed light on how rare and common genetic causes of schizophrenia seem to often disrupt the same biological processes that end up resulting in schizophrenia. According to Nature, one study used genome-wide association studies, also known as GWASs, to look at the genomes of approximately 77,000 people diagnosed with schizophrenia and approximately 244,000 healthy people as a control. This study was able to identify over 300 common genetic variants that very slightly increases risk of schizophrenia. Understanding these factors helps to understand what regions of the genome are affected, but not what genes exactly are affected. However, being able to narrow down the region and processes affected still gives us a lot of new knowledge that can be further studied going forward.

While this first study looked at common risk factors that slightly increased risk, the second study looked for rare risk factors that significantly increased risk. This study examined the sequenced protein-coding parts of roughly 24,000 people with schizophrenia and roughly 97,000 healthy control's genomes. This studies data combined with that of the first study revealed 10 genes that were major contributors to schizophrenia. Looking further into these 10 genes found that 6 of them were also linked to developmental delay and intellectual disability, and 3 were found linked only to schizophrenia as they caused protein blocking. More studies are still being done to further understand the overlap between the developmental disorders and schizophrenia as well as the biological processes that are disrupted and cause schizophrenia.

Genetic Mutations Don't Always Lead to Health Problems

Researchers have found that 3,222 British people who have Pakistani heritage commonly have mutations in 140 genes that stop those genes from working. The scientists observed that among those 821 participants, 781 genes were determined to no longer be functioning. This was done by analyzing those people's exomes, which is part of the genome and made up of exons that codes for proteins. Previous research has shown that some genes can be missing in healthy people, but 422 of the genes looked at in this particular study are ones that scientists did not know that people could healthily live without. This experiment proposes that uncommon mutations that knock out both copies of a specific gene aren't always automatically a problem. In the United States and England, analysts compared the health records from people in the study with over 1,500 people without the mutation. They discovered that those people with unique mutations were no more susceptible to health problems than those without.

A woman had mutations related to a gene that is important for meiotic division, specifically forming the egg and sperm, the PRDM9 protein. She later gave birth showing that she was, in fact, still fertile. Researchers believe that this could be due to a compensatory mechanism, which could perplex the pursuit for genes that cause rare genetic disorders.

This research really surprised me because having mutations in a few genes sounds like it would seem okay, but mutations in 140 sounds extreme. It sounds kind of crazy that a person can still be completely healthy while 140 of their genes aren't working. Since all the people in the study have the same heritage, maybe this event can have occurred because of an evolutionary factor or their external environment somehow modified their genes.

Genetic Testing will be Publicly Avaiable

A genetic testing company, AmbryGenetics, is making genetic information from the people it has tested publicly available, which will have an enormous amount of data available to researchers looking for genes linked to various diseases. The public available test are made of 10,000 of their current customers into a database called AmbryShare.

AmbryShare will not contain the actual exome, it is the part of the genome formed by exons, the sequences which when transcribed remain within the mature RNA after introns are removed by RNA splicing, of each person. though it will include aggregated information on the genetic variants. Having information from numerous citizens is considered vital to identifying the genetic fundamentals that give to illnesses.
The people tested all have or currently had breast or ovarian cancer and were tested to see if they have genetic differences that amplify the risk of those diseases. they then sequenced their exomes, which they found to have the roughly 1.5 percent of a person’s genome that holds the contents for the proteins formed by the body.
The best part of the data being publicly available will be, for instance, a researcher could see how often a certain mutation occurs among the tested people available. Ones which occur regularly in the 10,000 people, but not within healthy people, could elevate the risk of developing those certain cancers.
I believe this will be beneficially to not only researcher but to all people. Being able to see others genes may be able to lead people in the direction of finding out their own. This study will bring on many new technologies and findings of diseases to come.

Ribosmoal Protein Causing New Borne Disease Discovered

And article on Science Daily referencing a journal published in sciencemag explains how the protein causing isolated congenital asplenia (ICA) causes this disorder.  This condition is very rare and has be officially documented in less than 100 cases in medical literature.  These scientists sequenced 23 exomes (the part of the genome formed by exons that get transformed into proteins).  After proper testing and filtering, researchers narrowed down to 4,200 possible genes.   Next, researchers hypothesized which exomes would be more likely to house these gene therefore, deciding to focus on ICA exomes.  The gene RPSA responsible for coding for a protein found in the cell’s protein-synthesizing ribosome was found to be the culprit.  Every individual with a coding mutation in this gene is developed with out a spleen.  These results are puzzling because this ribosome is present in every organ in the body but only seems to effect the spleen. 

                This discovery may make it possible to develop new diagnostic test for ICA and lead to more research on this specific protein-making machinery.