8 Amazing Genetic Mutations Discovered in Humans

Genetic mutations serve as nature's tool for introducing new variations into life. When these mutations result in advantageous traits, they are inherited by future generations and can spread across the species.

Evolution wouldn’t be achievable without occasional mutations that introduce new characteristics into species. Consider humans, for instance. Roughly 12,000 years ago, a single person underwent a mutation that enabled them to digest cow milk. Today, this mutation is widespread, and entire industries exist to produce and sell milk in many forms.

Researchers estimate that each time the human genome is replicated, about 100 new mutations are introduced. While most of these mutations are harmless, occasionally one emerges that results in a seemingly extraordinary ability. These are eight such super mutations.

8. Super Vision

Humans have relatively sharp color vision compared to most animals. With three types of cones in our eyes, we gain an evolutionary edge as hunter-gatherers, allowing us to more effectively spot fruits and berries compared to animals that only have two types of cones.

Color blindness is a condition caused by a mutation that impairs one of these cones. This is more common in males since the genes responsible for detecting red and green hues are located on the X chromosome. Since men have only one X chromosome, any mutation there is more likely to express itself, while women, with two X chromosomes, are less affected.

But what if a mutation didn't impair a cone but instead expanded its color detection range? In men, this mutation would probably only lead to a slight shift in their color spectrum. However, in women, if one X chromosome carried this mutation while the other did not, it could result in the ability to perceive an extended range of colors that most people cannot see.

A study published in the Journal of Vision reveals that approximately 12% of women possess this form of “super vision,” a condition scientifically referred to as tetrachromacy.

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

7. Super-Dense Bones

Remember the film Unbreakable where Bruce Willis and Samuel L. Jackson’s characters embody extremes on the bone density spectrum? This concept is based on a gene called low-density lipoprotein receptor-related protein 5 (LRP5), which regulates bone density. Mutations in this gene can lead to conditions like osteoporosis, causing bones to become brittle. However, in rare cases, mutations can increase bone density to extraordinary levels, making them as nearly indestructible as adamantium.

In one such case, a boy from the Midwest survived a severe car accident without even a broken finger. This led doctors and scientists to investigate his family, and to their astonishment, they found that no one in his family had ever broken a bone, not even his 93-year-old grandparent.

However, there is a minor side effect associated with the “unbreakable bone” condition. Some individuals with the LRP5 mutation may also develop bony growths that protrude from the roof of their mouth.

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

6. Super Flexibility

Individuals with Marfan syndrome, a genetic condition, are typically extremely flexible—so much so that they can perform unsettlingly contorted movements. In fact, Spanish actor Javier Botet turned his extraordinary flexibility into a career, portraying twisted and grotesque characters in horror films.

Marfan syndrome impacts the body’s connective tissues. People with this condition tend to be unusually tall, with elongated limbs, and possess remarkable flexibility. The condition exists on a spectrum: mild cases allow individuals to lead relatively normal lives, but severe cases can lead to heart defects and other organ failures, which can 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

5. Super Pain Tolerance

Some studies suggest that individuals with red hair are better equipped to handle sharp pain and spicy foods. This might be linked to the gene MCR1, responsible for red hair production and reduced melanin levels (which is why redheads tend to have paler skin). While the notion that redheads don’t have a soul is a myth, the same gene mutation that gives them red hair also makes them less sensitive to certain anesthetics that are injected beneath the skin.

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

4. Super Sleeplessness

Most adults need between seven and nine hours of sleep each night to feel fully rested by morning. However, in 2009, a study was published that identified the first genetic mutation linked to sleep duration in any species.

Through genetic testing of participants in a sleep study, researchers discovered a mother and daughter who both carried an unusual copy of the DEC2 gene, which influences the circadian rhythm. As a result, they need significantly less sleep than the average person.

Although this mutation has only been identified in two individuals, the real breakthrough came when the shortened sleep effect was replicated in experiments with mice and fruit flies. This has provided researchers with important clues on where to search for genetic traits connected to sleep patterns.

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

3. Super Sexy Eyelashes

Ever wondered if it's possible to achieve those long, full lashes that beauty brands claim to offer? If you happen to have a rare genetic mutation called distichiasis, you might have more lashes than you expected. This dominant trait causes two rows of eyelashes to grow on each eyelid. Elizabeth Taylor, famous for her mesmerizing eyes, is one well-known person who had this condition. While it might seem glamorous, it can lead to issues like corneal scratches and other health problems, such as swollen limbs and varicose veins from Lymphedema.

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

2. Super Strength

While it may sound like a superhero tale, tweaking certain genes in the human body can actually result in tremendous strength without the need for intense workouts. Myostatin and activin A are two proteins produced by muscle cells to limit excessive muscle growth. These proteins regulate the size and number of muscle cells, setting a cap on strength. Individuals with a genetic mutation that prevents the production of these proteins can naturally develop massive muscles, giving them superhuman strength without the need for weightlifting or steroids.

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

1. Super Immunity

Sickle-cell anemia is an inherited condition where a mutated form of hemoglobin causes red blood cells to assume an abnormal shape, which hampers their ability to carry oxygen. Although this condition is detrimental in many ways, it does offer an advantage: sickle-shaped cells have shown resistance to malaria.

Individuals with severe sickle-cell anemia carry two copies of the gene mutation. However, those with only one copy of the mutation enjoy the malaria resistance without suffering the full effects of sickle-cell anemia. This is because they have enough healthy, normal-shaped red blood cells to compensate for the misshapen ones.

Studies suggest that a specific variation in the genes responsible for sickle-cell anemia could provide up to a 93% greater resistance to malaria while only causing mild anemia symptoms. Such a mutation could spread rapidly within the population due to its clear survival advantages.

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