Gene Mutations Protecting Sea Turtles From Tumor Causing Disease

     A group of researchers from the University of Central Florida published a recent study that uncovered a large number of gene variants influencing the immune system's resilience against fibropapillomatosis in juvenile sea turtles. Fibropapillomatosis, often referred to as "FP", is a condition that affects a large number of sea turtles worldwide, causing tumors to grow on the body that in many cases limit the turtle's mobility and make it more difficult for them to swim and hunt for prey. The new gene variants uncovered by the research team appear to have varying links to FP, with some of them inhibiting the progression of the disease while others may even help the immune system influence the regression of tumors caused by FP.

    The study included green turtles and loggerhead turtles in an attempt to uncover why green turtles appear much more susceptible to FP than loggerheads. The results of this area of the study were inconclusive and researchers stated further studies would be required focusing on that area, hoping to include more turtle species in future studies. Also inconclusive was to what degree specific variants influenced FP resilience in turtles, hopefully this will become more clear as more trials are conducted over time.

    All turtles are considered to be either threatened or endangered, and any work done to help uncover what may make certain species more at risk for certain diseases is crucial to the protection of these animals. While there is still much work to be done, the work being done to relate how this genetic variation influences organisms will hopefully lead to a better future for these populations.

A related article discussing the study may be found here.

Genetic Variant Discovered in Amish Protects from Heart Disease

 

The study of a gene variant found in the history of amish people shows that it can actually lower levels of fibrinogen and low density lipoprotein (LDL) cholesterol both of which increase risk of heart disease. The study showed that there is a correlation between the missense mutation in the enzyme coding gene B4GALTI and heart health. This was further confirmed in mice. By studying the genomes of the Old Order Amish, researchers can more easily spot variants that may have disappeared in larger populations over time. This is because the amish are a smaller population with less genetic diversity. The study was performed on a bigger scale with the variant and it showed similar results with reduction in components that lead to heart disease. While this may seem promising, there is still years worth of work left to determine if this variant leads to any other potential harmful effects. The reason behind why this occurs is unknown as well. Nonetheless, more research will be done to possibly turn this discovery into a new pharmaceutical target. 

Gene variant that causes Peruvians to be among the shortest people in the world

There are about 4000 common variations in DNA that affects a persons height, they usually only make the difference of 1 or 2 millimeters up or down. However, there has been a gene variant in about 5% of Peruvians that reduces height by approximately 2.2 centimeters. The variant is located on the FBN1 gene, which produces a protein that aids in the forming or bone, connective tissue, skin and other tissues. 

Source 1: https://www.sciencenews.org/article/gene-variant-height-peruvians-short

Source 2: https://www.medicinenet.com/script/main/art.asp?articlekey=33167

Amish Gene Lengthening Life Expectancy

An article recently published on New Scientist, explains the study of a gene variant in the Amish that is actually making them live longer, while also defending them from diabetes. The gene is SERPINE1, which creates a protein responsible for ageing (PAI-1). The gene variant made its appearance six generations ago in an Amish community. The variant caused carriers to produce about half as much of the PAI-1 protein compared to those who were non-carriers.
Douglas Vaughan, of Northwestern University, and a group of researchers studied the SERPINE1 gene in over 170 members of the Old Order Amish community to see if this variant would promote longer life expectancy. Of the 177 members observed, over 40 carried one copy of the variant. DNA, ageing and insulin resistance were all studied throughout the experiment. They discovered that those carriers of the variant lived nearly 10 years longer than the non-carriers. They also found that the carriers had about 30% lower levels of insulin, which is a common sign of slower ageing. Vaughan said that "the carriers appeared to be completely protected from diabetes." Drugs have already began development to target the ageing protein, which is a great find for the medical field.
This is such an interesting article to me. It makes me wonder if this gene variant is present in others and not just the Amish community. Hopefully there will be future studies to see if this is true! This is a awesome and useful information that can really help determine life expectancy for future generations.

Heart failure: Faulty gene carried by 1 percent of people

Researchers from the United Kingdom, Singapore, and Germany the conclusion that a faulty gene carried by approximately 75 million people worldwide will most likely cause heart failure . The heart failure is triggered by abnormal amount of stress, such as pregnancy, viral infections, or high blood pressure.


The gene is supposed to code for a protein called titin. In the case of 1% of people, the gene produces a mutated version of the protein, what researchers are calling titin-truncating variants. Researchers began studying the protein in rats as well as humans. When the researchers began studying healthy rats with the faulty genes, they found that while the animals appeared healthy, putting abnormal stress on their hearts triggered dilated cardiomyopathy.

Researchers also studied 1400 adults. Genetic analysis showed that 14 of the 1400, exactly 1%, had the titin gene variants. As well as having the titin gene variants, 14 people had abnormally large hearts, in particular the main pumping chamber, when compared to the rest of the group.

http://www.medicalnewstoday.com/articles/314265.php
http://www.med-health.net/Heart-Failure-Stages.html

Scientists Spot Gene Linked to Tanning ‘Addiction’

A recent study suggests that people who carry a particular gene variant may be more likely to develop an addiction to tanning. Whether from the sun or from a tanning bed, the idea that ultraviolet light can be addictive is still fairly new, although the recent studies are presenting biological evidence that some people can and do develop a dependence on ultraviolet radiation, similar to the way that some people become dependent on drugs. A researcher at the Yale School of Public Health, Brenda Cartmel, stated that “It’s probably a very small percentage of people who tan that become dependent,” but to develop refined therapies understand why some people become dependent is important. Unfortunately due to indoor tanning, people getting skin cancer are at younger and younger ages. 

Given that ultimately what they want to do is prevent skin cancer, the team of researchers wanted to see if there are any gene variants connected to tanning dependence, since genes are known to sway the risk of addiction. Saliva samples were taken from 79 people that showed signs of tanning dependence and from 213 people who tanned but showed no signs of being addicted at all. From the two different groups, over 300,000 gene variations, there was one gene that noticeably stuck out called PTCHD2. This gene’s exact job is not known for sure but it does generally act in the brain. For the reason that the biology behind tanning dependence and its possible consequences are so important, the research will keep continuing. 

In a recent study it was found that exposing mice to a daily dose of ultraviolet light boosted the blood levels of beta-endorphins. Beta-endorphins are substances created by the pituitary gland and function specifically as neurotransmitters between nerve cells. Beta-endorphins have drug-like qualities creating multiple effects. Response to pain is an example. In addition to response to pain, beta-endorphins are released during periods of intense excitement; capable of enhancing moods and fostering feelings of relaxation. These are the “feel-good” hormones and act on the same pathways in the brain as opiate drugs, like heroine and morphine.

For this particular study, these hormones ultimately suggest that the UV exposure is rewarding to the brain because the sunlight triggers the skin to synthesize vitamin D and eventually the brain evolved to find the UV exposure rewarding. Developing a dependence on tanning or more specifically UV light may seem in a way ridiculous but the potential consequences can be devastating. As a person who loves the beach and loves the sun and also used to love indoor tanning, I found this article extremely interesting.

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