Has Evolution Increased Autism Spectrum Disorder Risk?

Image: Shuttershock

A study conducted by the Psychiatric Genomics Consortium found that genetic variants linked to Autism Spectrum Disorders could be caused by evolution favoring traits for enhanced cognitive capabilities. Their research showed that variants linked to ASD seemed to have been positively selected rather than negatively selected as previously believed (meaning more traits for ASD were retained in populations). Scientists believe that the selected cognitive enhancement trait is beneficial, it has also come with the cost of increased risk of falling on the Spectrum. 

Hopefully scientists will be able to identify which genes are affected by this selected variant and can utilize it to find the cause of Autism disorders. As someone with a brother who is cognitively impaired, it would be interesting to see this come to life.

Link: Genetic Risk of Autism Spectrum Disorder Linked to Evolutionary Brain Benefit

Related: Autism Risk Genes Linked to Evolving Brain 

OCD-like Behavior Linked to Gene Mutation in the Brain

Honor Whiteman, a writer for Medical News Today, states that "Researchers have provided further evidence of how gene mutations in a certain brain region might fuel behaviors associated with obsessive-compulsive disorder."

OCD is a disorder where the affected have uncontrollable thoughts, obsessions, and/or compulsions. These thoughts can trigger a persons anxiety which makes it difficult for the person to live their daily lives. The compulsions refer to physical urges that are used to respond to the obsessions, some examples of common OCD include excessive cleaning (hands, clothes, etc.), rearranging items in a particular way, or compulsive counting counting. One percent of adults are affected by this disorder, however within that one percent, 50 percent of individuals severely suffer from OCD. The main causes of this disease are unknown, however, previous studies have show that it may be caused by specific gene mutations in the brain. A new study conducted by researchers from Northwestern University found that certain gene mutations in the corticostriatal region of the brain led to OCD symptoms in mice. This region of the brain is responsible for the regulation in repeating behavior. KAR (kainate receptors) genes play a key role in how the corticostriatal region is developed, and when KAR genes were erased in mice they showed numerous OCD-like behaviors.

I believe that the research done on OCD will prove its worth and help the people suffering from the disease. With the discoveries made by the research team at Northwestern, these KAR genes may be a major cause of OCD. With further studies on these genes and the region of the brain that they are located, doctors and scientist could develop treatments or medications in the very near future.

http://www.medicalnewstoday.com/articles/316039.php
https://news.northwestern.edu/stories/2017/february/ocd-like-behavior-linked-to-genetic-mutation/

Is the key to weight-loss in our genes?

According to an article Can we harness our genes to burn more calories? on Science Daily, Obesity Society states “Researchers may have identified a potential pathway in our muscle tissue to improve the rate at which our bodies burn calories”.

Continued studies have shown that our ability to lose weight may not lie entirely on individuals behavior but may lie in their genes. In a study at NIDDK’s Phoenix Epidemiology and clinical research branch a gene expression from skeletal muscle biopsies of 219 people were studied for long term weight loss over several years. In the skeletal muscle they found a gene THNSL2 that had a strong association between low energy expenditure and weight gain. Through this finding they found that an mRNA might be the culprit for manipulating the energy expenditure through inflammatory pathways that related to obesity and energy expenditure. These studies are bringing people closer to understanding why individuals bodies respond differently to contrasting diets.

I think this is an amazing advancement in the field of obesity studies. With obesity rates skyrocketing and the rate of eating disorders on the rise any advancement in what actually defines how our body handles calories is remarkable. With studies like this hopefully we can continue to learn more about the variation in weight gain among people and hopefully this could help find more efficient treatments for obesity and possibly prevent obesity in all. We might finally crack the code as to why some people can eat junk food everyday and perpetually stay skinny, while other people need to exercise and eat right everyday to maintain just to maintain a healthy weight.      

https://www.sciencedaily.com/releases/2016/11/161101093719.htm

http://www.health.harvard.edu/diet-and-weight-loss/exercise-and-weight-loss-the-importance-of-resting-energy-expenditure

Possible Gene Manipulation for Diabetes Cure

First lets distinguish the types of diabetes without going into much detail. Type 1 results when the body's immune response destroys the cells responsible for producing insulin these cells are called beta cells. Type 2 occurs when your body can't effectively keep up with the insulin demands of your body.  

With diabetes type 1 and 2 on the rise within the United States and throughout the world, scientists are looking around every corner to find a way to either prevent or cure diabetes. Dr. Francesca and her team from Max Delbruck Center for Molecular Medicine have found a way to reprogram liver cells into pancreatic beta cells in mice. This reprogram process occurs by introducing additional copies of the TGIF2 gene found on chromosome 2 of mice which reprograms the liver cells to take on an unspecialized state and stimulates the development of liver cells into pancreatic beta cells.

Although this study was not done on humans, progress and a new discovery has been made. This research brings genetic therapy for human diabetic patients a step closer for a cure. This is amazing research since so many lives are restricted by this disease. With the continuous study of the TGIF2 gene a cure may be within the near future.

The interesting part of this discovery for me that leaves me with a few questions is with the introduction of an increased amount of a certain gene would this lead to other mutations and to what degree? Would the mutations if any influence the degree to which other genes are expressed?
https://www.sciencedaily.com/releases/2017/02/170213083736.htm
http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGIF2

Can Tom Brady’s Success be Linked to Genetics?

Tom Brady, ‘super human’? How genetics may contribute to his success

Just a few short weeks ago, Tom Brady led his team to another super bowl championship. His incredible performance is amplified by the fact that he is about 40 years old. While most players his age are long retired, Brady’s performance has some people thinking that he really is a superhuman! Scientists, however, are more convinced by research that shows rigorous training can awaken dormant genes and kick them into high gear. These genes are related to muscle and blood vessel structure. Although Brady is not actually a superhuman, his DNA is what enables him to be superior to other players his age.

            People like Tom Brady are incredibly interesting because they are hard to come by. To a common person, he seems like an “ageless wonder”. To scientists, on the other hand, he seems like good research subject. Genetic research that can shed light on maintaining a healthy and impressive “fitness age” could benefit many people that struggle to stay in shape. Even if you’re not a Patriots fan, it is hard to deny that Tom Brady is one of the greats!

Related link: How much does genetics really affect your fitness

Second Known Case of Down syndrome in Chimps

https://www.sciencedaily.com/releases/2017/02/170221120819.htm

http://www.dailymail.co.uk/sciencetech/article-4246286/Meet-Kanako-24-year-old-chimp-syndrome.html

This article is very interesting and relates to our genetic class. This is the second known case of a disorder with similar characteristics to human down syndrome in chimps. Kanako, a 24-year old chimp in Japan has been diagnosed with down syndrome. Humans have 23 pairs of chromosomes which down syndrome occurs on pair 21 which is also called 21 trisomy--an extra copy on chromosome 21. However, since monkeys have 24 pairs of chromosomes, scientists found that this extra copy occurs on the chimp's chromosome 22. The traits encountered from this disorder seem are very similar to the human disorder of down syndrome if not more severe. This ape not only has social interaction problems, but health problems including severe blindness and cross eyes along with heart conditions and others that make life for this chimp very difficult. Kanako's care takers have made flexible adjustments for him that make life for this disabled chimp more opportunistic. 

I recommend this article for anyone comparing human genetics to animal genetics it is very interesting. I found this interesting because this is only the second case known and is very new and rare to science and researchers. This is also interesting to know every genetic disorder is different so this chimps behavioral science is not the same as the first chimp diagnosed with this. Genetic disorders vary in every individual and are new to the world which is why it is a great observational study. 

Where do flowers come from? Shedding light on Darwin’s 'abominable mystery'

Scientist have partially solved the origin of flowering plants. A team from the Laboratoire de Physiologie Cellulaire et Végétale questioned the appearance of a structure as complex as the flower over the course of evolution. We know that flowering plants provide our food and contribute color to the plant world. Flowering plants appeared only 150 million years ago. They were directly preceded by a group known as the gymnosperms. the flower contains the male organs and the female organs, surrounded by petals and sepals, while the ovules, instead of being naked, are protected within the pistil. They wondered how was nature able to invent the flower, a structure so different from that of cones. The researchers found genes similar to those responsible for the formation of flowers, and which are organized according to the same hierarchy. The fact that a similar gene has been found in flowering plants and their gymnosperm cousins indicates that this is inherited from their common ancestor.
I found this amazing because we see flowering plants everyday, but we never question how or why they are here in the first place. We know that they help give the world a better look by there ravishing colors, yet we have no clue how they came to be like so. I feel like this study will make more scientist to go back in time and draw out the genetics and history of the common ancestor of modern day flowers. 

https://www.sciencedaily.com/releases/2017/02/170224093531.htm

http://www2.cnrs.fr/en/2883.htm

Why We Need to Rethink Ethnicity-Based Genetic Testing

     This article discusses the importance of abolishing ethnicity- based genetic testing for mothers who are pregnant, but rather open up the genetic testing without ethnicity being the sole testing standards. Currently the data is skewed toward a European Caucasian population. This makes it hard to to interpret due to the genetic variance in minority races. This should be concerning and important because the US has been increasingly diversifying. Genetic testing is offered to women during pregnancy and allows the mother to see if there are any diseases or complications with the offspring before birth. However, the genetic testing is currently ran biased on the self reported ethnicity the mother provides. An example would be African patients are offered testing for sickle cell disease. Although, there are some diseases that are prevalent in certain minority groups, it doesn't inhibit other disease from happening that might not be getting tested for. With updated technology there is an inexpensive way to genetically screen multiple diseases at a time. This doesn't only allow physicians to better a universal disease panel to the parents but also promoting equality in genetics.
     I agree with this article that it is important to do genetic testing regardless of what ethnicity the child is. With so much diversity amongst individuals that are reproducing it is hard to determine the exact ethnicity of a child. Being able to create a common screening to check for multiple mutations and diseases regardless of race or ethnicity allows physicians to provide parents a more in depth result of the child's health.

Discovery in the Genetics of Happiness

Happiness is said to be a fleeting thing, but thanks to researcher Meike Bartel, the scientific community is one step closer to understanding just how happiness is expressed in the first place. By sampling almost 300,000 people, Bartel took a sample of each subject's DNA and measured their well-being (self reported measure of life satisfaction and mental health). From this, she was able to determine important information about the link between genetics and happiness, including variants for happiness, depression, and areas on the genome linked to happiness.

Bartel stressed the fact that even though research has found a link between a subject's well-being and their genetic make up, lurking variables such as environmental factors play a major role in the overall well-being of a person. It is important to understand that a subject that does not exhibiting this variation can still be as happy as a person that does, but those with it are more prone to optimistic bias.

Meike Bartels speaking in Dubai about the 'Science of Happiness'

A journal I found on the subject on the National Institute of Health's website entitled "Genes, Economics, and Happiness", suggested that happiness was linked to a longer 5-HTTLPR allele, a serotonin transporter gene. Subjects that had a longer 5-HTT allele had a tendency to report a higher well-being that those that had shorter ones. Additionally, subject's with the shorter allele tended to succumb to stress depression more frequently. In both this journal and Bartel's journal article, the inconsistency of the experiments for this discovery was noted, as later experiments yielded varying results in regards to allele length and the effects on well-being. The topic would be interesting to explore further, as the link between the two variables could be significant.

An important question that was raised during this research is whether this genetic link to happiness could be used to genetically alter a person to have a happier predisposition. Unfortunately, the answer is no... for now anyway. Bartel explains that there are several thousand gene variants responsible for happiness, and altering that much DNA would be too great a task. For now, her focus is on the effects the environment has on genes.

CNBC "Happiness might Well be Genetic"

Bottlenecked: Greenland's Inuit Population

      Genetic variation within a species' population is important to its overall health and survival. The article I came across was recently published in the Journal Genetics and discusses the effect of bottle-necking on a populations genetic variation. More specifically it looks into the Inuit population of Greenland and the effect bottle-necking has on deleterious, or harmful, genetic variations. For more insight into deleterious genetic variation you can take a look at this article by Kirk Lohmueller, who goes into detail about this phenomenon and its distribution in human populations.

       As for the original article the researchers found that the Inuit population did see a slight increase in deleterious alleles. They also determined the Inuit population had a much higher genetic load compared to other human populations who have experienced less bottle-necking. Genetic load refers to the difference between the fitness of optimal and observed genotypes in a population. This information gives insight into how the genetics of populations are negatively impacted by bottle-necking. These articles are in regards to human populations but this could be extrapolated onto other species. It seems to me that this is something that may help us in future wildlife conservation efforts.

Understanding bulls' gene-rich Y chromosomes may improve herd fertiliy

This article talks about a better understanding on how cattle and other mammals evolved, as well as help animal breeders and farmers better maintain and enhance fertility in the cattle industry. Scientists identified 1,274 genes in the male specific region of the bovine Y chromosome, compared to the 31 to 78 genes associated in the Y chromosomes of various primates. Understanding genetic diversity may give farmers another tool for managing their herds to improve male fertility. The researchers analyzed the expression of the entire Y-linked genes as the bull aged, beginning soon after the bull's birth, during puberty and then again after the bull matured. 
I think that this will help farmers and breeders in the long run for cattle. They understand low fertility is a big problem for the dairy and beef industry, which means it's time to pay more attention to male fertility now. What I find interesting is that most animal breeders and farmers select bulls based on physical characteristics, such as the size of the testis. They think this because the Y chromosome is only found in males and only passed through the male line. 

http://www.pnas.org/content/110/30/12373
https://www.sciencedaily.com/releases/2013/07/130711135321.htm

Genetic Testing: Reason to Gather Your Family Health History

New abilities have developed in genomics-based technologies where physicians are guided toward therapies and screening medical treatments. These treatments developed in order to find individual's genetics and the disease risks. With the knowledge of patient's genetics, it can help physicians make better decisions about their treatment options. Gathering family's history about the health is very crucial to figure out what kind of risk or diseases can afflict in the future. Discussing these topics can help understand the medical heritage that can open doors to better health and wellness.

This is a great topic to bring up with your family to discuss and develop ways to figure out what can possibly happen and the types of risks that can occur in the future. Since technology is advancing rapidly, physicians knowing what can happen will help with better treatments. 

http://health.usnews.com/health-care/for-better/articles/2016-12-21/genetic-testing-reason-to-gather-your-family-health-history

Human Gene Editing Supported by Science Panel

Human Gene Editing Receives Science Panel's Support

Just like any field of study, genetics entails some pretty controversial topics. One of the most debatable advances in genetics research is the idea of physically modifying human embryos in order to create genetic traits that can be passed down to future offspring. For many years it has been difficult to define the ethical background of this technique. It is widely feared that this technology could and would be used to enhance intelligence or to create physical specimens to eventually serve as soldiers. This article reports that an advisory group of scientists has endorsed gene editing in order to alter/prevent babies from acquiring genes that cause serious disease when there is no other alternative intervention. Human germ line engineering, as this technique is called, will allow parents to have biological children without passing on the genes for Huntington’s or Tay-Sachs disease, for example.

            I found this article to be really relevant and interesting. To be able to alter genetic traits in human embryos is an incredible advancement that should be used, but only for the right reasons. As incredible as technology is becoming, who knows what catastrophes could result from putting this type of power into the wrong hands. This topic should not be taken lightly and should abide by a strict set of ethical laws. Personally, I think any advancement is a good advancement. A few years ago, this would have never even been thought to be possible. Now, according to this article, “the National Academy of Sciences and the National Academy of Medicine has lent its support for this once-unthinkable proposition”.

A related article says that China will develop the first genetically enhanced super-humans using the same germ line engineering technology. 

Microbes Genetically Fit to Withstand Extreme Environmental Conditions

https://www.sciencedaily.com/releases/2017/02/170214172759.htm
http://www.genomenewsnetwork.org/articles/07_03/extremo.shtml

This article is about living organisms as small as microbes living beneath the ice layer in Antarctica. The article talks about enzymes and proteins in which are genetically adapted to maintain life in extreme temperatures in deep sea vents. The article discusses how flexible the ability of the enzymes and proteins must be to physically adapt to these conditions. Scientists in this article experimented by changing DNA sequences of these microbes changes their ability to withstand different extreme conditions and temperatures. Extremophiles like this microbes ultimately behave in the same ways when their genetic make up is altered from scientific mutation.

This article skewed my attention because I have not learned about much life in Antarctica due to that fact that it is below 0 degrees, which is unlivable for most organisms. I learned a fascinating technique of switching DNA sequence in an enzyme or protein's DNA can change an organisms optimal preference for environmental survival. The conceptualization of scientifically mutating an organism via science methods can change an organism's optimal environmental preference is extraordinary. This relates to genetics because DNA sequences are being altered for the study of extremophiles and their environmental behaviors. This research would particularly interest a marine science major or anyone interested in the genetics of microbial organisms.

Karina Vetrano: Wider Police Use of DNA Database

Wider Police Use of the DNA Database 

As we have been discussing in class lately, DNA database examination has been in the news in wake of the Karina Vetrano case. Familial searching is using the DNA database to find relatives of people who have been charged with a crime. The argument is that if there is no exact match in the database, that a search should be conducted to find close relatives of the suspect. The state of New York does not authorize this method. Both officials involved in the case and Vetrano’s parents have advocated for the implementation of familial searching. The other side of the argument defends the idea of this being an invasion of privacy of innocent people, or even more seriously, someone being wrongfully acquitted based on the results of familial searching.

This article mentions other cases, such as that of the “Grim-Sleeper” in Los Angeles, CA, that led to an arrest because of the information familial searching had come up with. I believe that this technique should be authorized nation wide. Too often murder cases go unsolved even though we have the tools and technology to solve them right in the palm of our hands. Even when I put myself in the shoes of someone related to a possible suspect, I would feel as though I am facilitating the justice system… I would not be angry or frustrated with “having my privacy invaded”.

Check out this video of Vetrano's mother at the DNA hearing.