In this article by ScienceDaily, researchers have put together two different phenomenal study cases. The first one is about brain shrinkage and the second one is about intracranial volume; which is “the space within the skull occupied by the brain when the brain is fully developed in a person’s lifespan” (Jason Stein). In the first case study, they believe that they have found four genes that speed up shrinkage of a brain region that makes new memories and may relate to Alzheimer’s disease; however these genes do not cause the disease. Researchers believe if people have these gene variants in them then it can cause cell destruction and striking shrinkage of the brain which results in severe loss of memory and cognitive ability. Also, at this rate the risk of Alzheimer’s doubles every five years. In the second study case the researchers had done a genome wide association study on cross sectional measures of intracranial volume and brain volume. However, they didn’t find much about brain volume but did discover two loci that were related to intracranial volume and this might give us hope for other information about the brain. After reading this article I was shocked at the fact that people have the four genes that speed up brain shrinkage and can cause Alzheimer’s disease and there is really no stopping it as of right now….even though the discovery is helpful and good but wish there was a way to prevent brain shrinkage.
Project ENIGMA (Enhancing Neuro Imaging Genetics through Meta-Analysis) has been created for the largest brain study. There are 200 scientists from myriad of institutions involved in this project. Project ENIGMA was created to search for two things; one was to find genes that can increase your chances of having a single disease that your children can inherit and also looked for genes that cause tissue atrophy and reduce brain size. Apparently reduced brain size results in hereditary disorders such as schizophrenia and bipolar disorder. In the project, researchers got different brain scans of different people from around the world basically. They took all the scans and found patterns in genetic variation and the scans also showed how the changes in the genes can alter the brain. Also the researchers measured brain sizes and its memory centers in many MRI scans. The researchers looked for genetic variations related to brain size and they discovered a gene, HMGA, that show differences in people’s intelligence related to their brain size. This new discovery can help them figure out the genes that promote the disorders and might even help find treatments.
After reading this article I actually was amazed as to how DNA and genes is such an intense subject. I really liked this article especially when they found out that brain size and intelligence relate to each other.
About 300,000 years ago people didn’t have many options when it came to food and nutrients. That’s why the human body automatically produced large amounts of Omega-3 and Omega-6 fatty acids. This adaptation actually was useful and helpful for humans then. However, this adaptation in today’s life would actually result in disorders like cardiovascular disease. The reason being that now you can get these fatty acids in vegetable oils or from eating fish easily. There are two key enzymes that do produce the fatty acids from vegetable oils and we are the only humans that actually have that unique genetic variant. So having to obtain these fatty acids easily in our everyday diet and our bodies producing can lead to many issues to your bodies; since we shouldn’t have too much of it. This article actually make sense cause back then we really didn’t have much when it came to food or surviving so we were lucky enough that our bodies were able naturally make these fatty acids to help us survive but who could have thought that would actually hurt us now just because we have many types of food that we can obtain fatty acids from.
Gene therapy hasn’t been always successful, however medical researches in Britain have had a successful gene therapy for the blood clotting disease called hemophilia B. It was done by injecting six patients that have disease with the correct form of defective gene. Hemophilia B has been around since Queen Victoria. Hemophilia B has a clotting agent known as Factor IX gene. If this gene goes bad and untreated then it can result in death. The disease occurs mostly in men since it lies on the X chromosome of which men have only one copy of and if women have it they can compensate with the other X chromosome. The trial had six patients where the doctors injected a virus into their veins. “The virus homes in on the cells of the liver, and the gene it carries then churns out correct copies of Factor IX.” (Nicholas Wade). This would keep producing Factor IX, which would stop the blood clotting since it’s the good gene. This success had many faults and improvements over the years, but finally it worked. However, from the six patients two of them kept needing the treatment but they weren’t injected with the same virus again since the immune system was able to attack it. I found this ironic since a virus actually helps prevent the disease from happening by giving out correct copies of the Factor IX….its actually pretty amazing how things work
It has long been known that kidneys have been involved in regulating blood pressure, however researchers from University of Leicester’s Department of Cardiovascular Sciences has found genes that play a big role in the process. The two genes are messenger RNAs (mRNA) and micro RNAs (miRNA) which causes hypertension. Also, miRNA controls the expression of the hormone renin. Renin is one the biggest contributors to blood pressure regulation. They found out via study of 15 males with hypertension and 7 males with normal blood pressure. They analyzed and compared their genes mRNAs and miRNAs that are in the medulla. Messenger RNA is a single strand molecule that copies all the genetic information from DNA to mRNA strands to help make proteins. The process of converting mRNA to proteins is called miRNA. When compared they were able to tell which genes were playing a role in hypertension. I felt this article a bit confusing cause i understand how miRNA has a hormone called renin which has a big contribution in regulation blood pressure but how does mRNA play a role in this? I mean yes it copies material from DNA but what part of RNA really is controlling the blood pressure….however they found something to help people with hypertension and soon will figure out treatments.
Researchers from UCLA believe that people show signs of post-traumatic stress disorder (PTSD) in their genes. PSTD is a disorder that develops where people endured a life threatening event in their life such as a rape or war. They have found two genes that are correlated to serotonin production leading to a bigger risk of this disorder. Serotonin is a neurotransmitter that is involved in sleep, depression, and memory. These genes not only tells people that they might be inclined to the disorder but also have new treatments for it. Dr. Armen Goenjian, the main author, examined DNA from 200 people from Armenia that went through a horrible earthquake. There were 12 extended families who had the two genes making it more prone to PTSD symptoms. The genes were TPH1 and TPH2 which controls the prodcution of serotonin. Disrupted serotonins causes PTSD, basically saying that the genes are producing less serotonin resulting in PTSD. However, finding these genes can help the military know where to assign soldiers to their combat duties since they are prone PTSD. Psychaitrists have been using the trial and error process for treating patients but now they know that serotonin and the genes play a big role they will be able to do something. What really interested me in this article was that this discovery can actually help the military field. They would know if the soldiers are prone to this disease and would reassign them somewhere else where it wouldn’t affect them…also this would be good the soldiers and their families it would give them a piece of mind.
Researchers in Virginia Commonwealth University (VCU) have maybe found a treatment for blood pressure and blood clots in pregnant women with preeclampsia. They believe that epigenetic mechanisms, “changes in gene expression that are mediated through mechanisms other than changes in the DNA sequence,” (VCU), may be playing a role in this. They found an inflammatory enzyme called thromboxane synthase which synthesizes thromboxane, increasing blood vessels and cause blood clots in pregnant women with preeclampsia. Also, another main epigenetic mechanism is methylation of DNA which controls the expression of genes. For example, if the enzyme thromboxane was to increase then it would reduce DNA methylation and passing of white blood cells (which help fight infections) which would cause blood clots. Some of the treatments for preeclampsia are inhibition of thromboxane synthase, blockade of thromboxane receptors, and dietary supplements that have folate in it. Folate helps stop the changes in DNA methylation. In my opinion this is a really important discovery since its about babies they are our future and they shouldn’t nor should the mothers have to deal with such a thing……i am glad they found something to prevent blood clots happening . 
