No Sleep, No problem

 As new discoveries are made, scientists often ask, how can we use this to help others. That is the case with a new mutation found regarding sleep. The SIK3 gene is linked to processes of magnesium binding, protein phosphorylation, and ATP binding. A mutation in the gene was recently found to be linked to people who can function on less sleep. 

The mutation, when studied in mice, showed that the mutation allowed the mice to sleep for half and hour and be fully functional. They typically sleep for 12 hours. This mutation was discovered in a women in her 70's. She sleeps for about 6 and a half hours a night. This is one of 5 mutations discovered already that is linked to sleep.  The SIK3 mutation allows for a higher release of a kinase, that is present in the synapse of neurons, and allows for better signal transmission despite lack of sleep. This discovery may be able to help people with sleep disorders be able to function at higher levels then before.

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SIK3 Gene

Horse Discovery Leads to Hope for Humans

 A new genetic discovery within horses may open the door to many new medical advancements, and may provide new treatments for cystic fibrosis and many more inherited diseases. Horses with improves stamina have adapted to overcome a mutation in the KEAP1 protein structure. KEAP1 is part of a pathway alone with NRF2 that exists in all vertebrates and plays a role in protecting the bodies cells from oxidative stress. This pathway is also critical in metabolism. The mutation in the KEAP1 protein leads to a premature STOP codon. 

What surprised the researchers is that the horses have figured out a way to work around this STOP codon. The cells have evolved to be able to recode the signal, and allow for full translation of the gene. This is the first time this kind of skill has been seen outside of viruses, which need to alter cell DNA in order to replicate itself. What a discovery! This opens the doors for more ideas on how this can be used for treatments of diseases that are caused by a premature STOP codon. 

This evolved trait also shows that it makes the KEAP1 protein much more efficient, boosting NRF2 and allowing for more endurance and stamina during intense physical activity, and protecting the cells from reactive oxygen species. This means that this mutation may also help aid in treating age related diseases. 

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Viruses exhibiting similar process

DNA from Lost Human Population Leads to More Questions than Answers.

 The Sahara as we know it today is so much different than what it once was. In its glory, it was an oasis full of life and beauty, and proved to be a channel for ideas to spread. The dessert and who inhabited it has been a mystery. Recently, geneticists were FINALLY able to examine gene sequences from the skeletons of two women. There is proof of pottery that came from outside the dessert, proving they had contact with people outside of their own families, but their genetics say the opposite...

The genes derived from the women show that they do not share genetic links to the African cultures surrounding the Sahara. In fact, the skelton has around 10 times LESS genetic code in common with Neanderthals, then current populations in the surrounding areas. There lies the mystery.

And to make it even weirder, there was clear signs of communication with other civilizations, due to the pottery and agricultural ideas that were shared, but no signs of gene mixing between them. 

The populations of the "green Sahara" have always been a mystery as it seems every new discovery leads to more questions, like in 2013 when a common burial ground used over 4 millenia, and had a random switch from only women and children to male burials. 

As technology advances we get more insight into our past, and I look forward what answers we get to how our species evolved to what we are today, and why these Saharan skeletons are an outlier to sciences prior beliefs. 

Saharan Genetics

2013 Findings

Argentina Drug Offers Hope to Cystic Fibrosis Families

Cystic fibrosis (CF) is a genetic disease located on chromosome 7 that affects the exocrine glands in the body. It causes abnormally thick mucus, leading to the blockage of the pancreatic ducts, intestines, and bronchi which often results in respiratory infection and progressive worsening of lung function. Life expectancy for this disease is currently 47 years.

Three years ago, a new medicine called Orkambi was discovered in Argentina that was designed to reverse one of the genetic flaws that make CF as damaging as it is. The studies of this drug have had mixed results, but one of the more optimistic results said that it has nearly halved the disease progression of CF. While this drug has the potential to help many people affected by CF, it is not accessible to all. The official price of the drug is around $100,000 a year, and at this price England, along with other countries, has determined that the price is not worth the effectiveness of the drug. Families will not take no for an answer, “She’s our child, nothing else matters – I’d lose my house before I take her off the treatment,” says Nina White from Kent, mother of seven-year-old child with CF.

With the hope of a treatment families have turned to private companies and are spending $8,000 a month for the treatment. “We’re going month-to-month, everyone’s digging in. It’s completely unsustainable,” says White. Even though the price is unsustainable, White has noted remarkable improvement in her daughters condition and will do whatever she needs to to keep her daughter on the treatment. Since Orkambi is not patented, another company in Argentina has began producing a similar drug for only $23,000, a significant reduction in price that may make the drug accessible to more families.

I believe that this advancement has the potential to help thousands of people affected by the genetic disorder cystic fibrosis. I want to be glad that another company found a way to produce the drug for cheaper, but people can not forget about the 20 years and billions of dollars that the original company poured into research to discover the drug. I hope there is a future where this drug will become accessible for every patient diagnosed with CF to increase life span and quality of life.

Marijuana Traffickers: They're People Too

On September 25, it was reported by Myles Karp for the New York Times that cacao beans are in the midst of another fungal epidemic.  As a result of selective selection by humans, the fungus is able to kill a majority of the commercialized cacao strains.  Sometime around the 1940s, cacao markets were regulated to only contain a few strains of cacao.  Because of this, variation had declined greatly, causing the majority of cacao beans to be unable to adapt to new situations, such as a fungus.  This is also not the first time cacao beans had to face such an epidemic.  In the early 2000s, the world saw another cacao blight in which cacao production dropped 94%.  Not only is this bad for the chocolate market, along with the major chocolate companies, it is also detrimental to the cacao bean farmers.  Most farmers are fairly poor, and with a steep decline of cacao cultivation, their standard of living declines with it.
Marijuana traffickers is one possible origin of the current fungal epidemic.  While going in between countries, marijuana traffickers could have possibly grabbed some cacao beans from plants along the shore that were infected.  Because they were carrying these beans to their next destination, they unintentionally spread the fungus across the water to a new continent.  This, in turn, would start the spread of the fungus across the entire continent, waiting for more people or animals to spread the fungus farther until all continents are infected with the same fungal disease.
But worry not! Scientists are frantically working to make sure chocolate does not die with the millennials.  A popular company known as CATIE (The Tropical Agricultural Research and Higher Education Center) has set out to create new strains of cacao beans that is adaptable to the current environment, as well as future environments.  Even better, the new strains are being produced specifically for adaptability and flavor.  Flavor is so much a priority that any bean that tastes less than amazing is thrown out.  I think I can speak for all of us in this world when I say that they should definitely be the one holding the Nobel Prize at the end of this year.  For genetics? Maybe.  For peace? Maybe.  For the legacy of the human taste buds? Definitely.  If this doesn't give you a little more faith in humanity, try eating a fungus ridden cacao bean and reevaluate.  Overall, it is safe to say that this is the type of precaution we should take for every product that is used on a worldwide scale, including cotton, wheat, corn, even animals.  In a fight against natural selection and artificial selection, nature will always win.

Primary Care Pediatricians Avoid Genetics Examinations in Patient Care

A study published in Genetics in Medicine shows many pediatricians have a difficult time using genetics in their routine care. After research in multiple specialties, they have concluded the greatest obstacle is the doctors’ general ignorance in the field of genetic medicine. This is not surprising due to the exponential daily advancement in genetic information and technology. To solve this crucial situation, the best way is to educate primary physicians with a helpful guideline and educational system.  

This article stood out to me because I’m currently in the pre-medical concentration. I have heard stories of incompetent doctors and this news confirms my doubts. I understand physicians have extremely busy schedule; however, it is also important to keep up with recent research and discoveries to better their preventive and care practice. A doctor who never stops learning is one I will strive to become. 

Source article : http://www.sciencedaily.com/releases/2014/09/140911151653.htm

Secondary article: http://www.sciencedaily.com/releases/2013/11/131119130835.htm