8 Super Cool Genetic Mutations Found In Humans

As far as color vision goes, humans have pretty keen sight relative to other animals. Having three types of cones present in our eyes gives us an evolutionary advantage as hunter-gatherers by better enabling us to spot fruits and berries than animals with only two types of cones.

Color blindness is a condition caused by a gene mutation that disables one of these cones. It’s much more common in males, since the genes responsible for detecting the colors red and green are found only on the X chromosome. Because men only have one X copy, if mutations on the X chromosome occur they’re more likely to exhibit altered traits than women who have two X chromosomes.

But what if instead of disabling one of the cones, a mutation increased the range of colors it was able to detect? If the mutation occurred in a man it would likely only result in a slightly shifted color spectrum. But in a woman, if one of her X chromosomes had this mutation and the other one didn’t, it would hypothetically result in her possessing the ability to see an increased range of colors undetectable by most people.

According to a study published in the Journal of Vision, roughly 12% of women have this sort of “super vision,” although scientists have officially labeled the condition tetrachromacy.

http://www.waivingentropy.com/2012/06/19/the-paradox-of-tetrachromacy/ Source: Waivingentropy.com

Remember that movie Unbreakable where Bruce Willis and Samuel L. Jackson are at opposite ends of the bone density spectrum? That concept is based on a gene known as low-density lipoprotein receptor-related protein 5 (LRP5), which controls the body’s bone density. Mutations to this gene can cause degenerative diseases like osteoporosis, which leave the bones brittle and fragile. But, in some rare cases, this gene can jack up bone density to the point of adamantium-level unbreakability.

In one such instance, a boy from Midwestern America was in a horrible car accident and walked away from it without so much as a fractured finger. This prompted doctors and scientists to examine his kin and, to their amazement, they discovered that no one in his family had ever broken a bone, including a 93-year-old grandparent.

There is a slight side effect to the “unbreakable bone” condition though. Some people with the LRP5 mutation will also exhibit bony protruding growths on the roof of their mouth.

http://healingsourcepharmacy.ca/event/osteoporosis-bone-density-clinic/ Source: Healingsourcepharmacy.ca

People with the genetic condition known as Marfan syndrome tend to be extremely flexible. Actually, horrifyingly flexible. So horrifying that they can make a career out of playing disfigured ghosts and ghouls in horror movies. Or at least that was what Spanish actor Javier Botet did when he found out he could bend and twist his body into insane contorted positions.

Marfan syndrome affects the body’s connective tissues. People who have it tend to be abnormally tall, have elongated limbs, and be highly flexible. However, it is a spectrum disease, meaning that people with mild cases can lead fairly normal lives, but severe cases can lead to heart defects and other organ failures that could be life-threatening.

http://metro.co.uk/2015/07/25/this-is-what-the-terrifying-ghost-from-mama-looks-like-in-real-life-5312490/ Source: Metro.co.uk

Some research has shown that people with red hair have a higher tolerance for stinging pain and spicy food. While this could have something to do with the rumors that they don’t have a soul, it’s more likely due to a variation of the gene MCR1, which produces red hair and also restricts melanin production (the reason why all redheads are so pale-skinned). It’s probably a good thing they can take the pain too, since the same gene mutation causes them to be less responsive to anaesthetics that are injected under the skin.

https://science.howstuffworks.com/science-vs-myth/everyday-myths/redhead-anesthesia1.htm Source: Science.howstuffworks.com

Most adults require seven to nine hours of sleep a night to be fully rested the next morning. However, in 2009, a journal was published in which scientists identified the first genetic mutation that relates to sleep duration in any species.

After conducting genetic tests on sleep-test participants, researchers discovered a mother and daughter who share an abnormal copy of a gene known as DEC2, which affects the circadian rhythm. The result is that they require far less sleep than the average person.

Although the mutation has only been found in two people, the power of the research arises from the fact that the shortened sleep effect was replicated in experiments using mice and fruit flies. Consequently, the research has given scientists much needed guidance on where to look for genetic traits linked to sleep patterns.

http://beaut.ie/life/sleep-my-pretty-or-not-sleepless-nights-bad-skin-and-brain-fog/#.VmBdQHarTIU Source: Beaut.ie

Ever wish you could get those fuller, longer lashes that cosmetics companies are always claiming they can give you? Well, if you happen to have been born with the mutation known as distichiasis, you may have more eyelashes than you bargained for. This dominant trait causes two full rows of eyelashes to grow on each eyelid. Elizabeth Taylor, who was always known for her stunning eyes, was famous for having this mutation. But it’s not all glamorous, the attribute can also cause corneal scratching and has been linked to other less alluring conditions, like swollen limbs and varicose veins resulting from Lymphedema.

http://www.pop-topia.com/15-hottest-actresses-time/ Source: Pop-topia.com

It might sound like something out of a comic book, but tweaking certain genes in the human body can actually unleash titanic strength without having to endure a strenuous workout routine. The proteins myostatin and activin A are two proteins normally secreted by muscle cells to suppress excessive growth. They basically regulate the size and number of your muscle cells, thereby putting a limit on your overall strength. As you might expect, people with a genetic condition that prevents them from producing these proteins are naturally able to grow their muscles extraordinarily large, resulting in super strength without weightlifting or steroids.

http://www.fitnesssolutionsplus.ca/how-to-get-stronger/ Source: Fitnesssolutionsplus.ca

Sickle-cell anemia is a hereditary disorder characterized by a mutated form of hemoglobin that causes red blood cells to take on a distorted shape that reduces their ability to carry oxygen. Although this is obviously a detriment, there is a bright side since sickle cells have proven to be quite resistant to malaria.

People with severe sickle-cell anemia carry two copies of the mutation, but individuals with a only a single copy maintain the malaria resistance without exhibiting any sickle-cell symptoms. This is because they still have enough normal shaped red blood cells to negate the effects of the misshapen ones.

Research indicates that a certain variation in the genes responsible for sickle-cell anemia could offer up to a 93% higher resistance to malaria with only mild anemic symptoms associated. A mutation such as this would have the potential to spread very quickly throughout the human population since it’s unmistakably beneficial to survival.

http://www.huffingtonpost.com/2014/11/14/sickle-cell-trait-kidney-disease_n_6154582.html Source: Huffingtonpost.com