10 Incredible Biological Mutations


The word “mutation” tends to have a negative connotation, in no small part thanks to science fiction. We think of mutations as something gone wrong. But mutation is also how things improve. Throughout human history, there had been some remarkable mutations with some incredible side effects.

10. Shovel Teeth

Mutation is what has allowed nearly every species to get from where it started to where it is. This is the basis of Darwin’s survival of the fittest. Beneficial mutations allow a life form to survive while those that are not beneficial will die off. In human history, one of the most curious mutations that allowed people to advance as a species was right in our mouths: Shovel teeth.

Around 20,000 years ago, human beings migrated from Siberia to Alaska. The early Native American population, well before Europeans arrived on the scene, all had shovel-shaped incisors. And researchers believe that was a survival mutation.

Genes in the human body are typically involved in more than one job. The mutation that causes shovel teeth was linked to three other things as well; sweat glands, hair thickness, and branching ducts in mammary glands. While it was unlikely sweat and hair had much benefit to the early Native American populations, breast milk would have been vitally important. In the northern parts of the world, they would have had far less exposure to sunlight. Babies would have been at great risk of vitamin D deficiency. Unless, of course, there was an associated mutation that allowed for increased nutrient transport through breast milk. 

Based on the evidence, it seems as though this mutation was part of an overall survival mutation to ensure the continuation of the species. Once children were old enough, they could get nutrients for survival through other means. But breastfeeding would have been crucial at the beginning of life, and this mutation ensured the children would get the maximum amount of nutrients possible. 

9. The Speed Gene

No one is likely to have the genes to run like the Flash, but you can definitely have some genetic gifts to put you at the head of the pack. One of those is a mutation of the ACTN3 gene. In people who have a certain mutation that creates a protein that affects how muscles fire and contract, their athletic ability is remarkably increased. To call it a “speed gene” is something of a misnomer as it has wide reaching effects. Sprinters can run faster, but power lifters with it can lift more. Athletes of all stripes are more resistant to injury and can recover faster after exercise. 

Naturally, researchers have been looking into ways to exploit this trait for some years now. Over a decade ago, there was a company promising to run tests on children so parents would know if they had the next Usain Bolt in the yard. There’s clearly more to athletic ability than some quirky genes, but there is clear evidence that the right expression of these genes can contribute to being an all around better athlete. 

8. Marfan Syndrome

If you don’t know the name Javier Botet, there’s still a good chance you’ve seen him on film before. Botet is a Spanish actor known for movies like Mama, IT, Insidious, The Conjuring 2, Crimson Peak and the REC series, among others. Those are all big names in horror over the last 15 years. The reason you may not recognize Botet is that he plays a monster in each one of those films, something he has taken to as a result of Marfan Syndrome.

Unusually long limbs characterize Botet’s condition. Even his fingers are extremely long and thin. It may look unusual to a person on the street, but in a horror movie, it lends itself well to an otherworldly appearance, and Botet had embraced that. 

A mutation in the gene that produces a protein known as fibrillin-1 causes Marfan. That causes an increase in the production of a certain growth protein. The result is connective tissue abnormalities that result in those long limbs and digits. If you watch Botet on screen, his body contortions are not special effects, they’re just the way he’s able to move. 

7. The Unbreakable Family

Brittle bones are something that is a real concern for many people as they age. Osteoporosis is one of those things the elderly need to prepare for, and many take calcium supplements and other such things to maintain bone density. But science is trying to find a better way to combat this problem thanks to an unusual and very comic book-style biological mutation.

There is a family in Connecticut who have a mutation that works in the exact opposite way of the one known to cause low bone density. For them, the mutation has led to a marked increase in bone density, essentially making their bones unbreakable. The discovery of the mutation was about as remarkable as the mutation itself.

Back in 1994, a member of the family got into what should have been a serious car accident. At the hospital he was X-rayed, and the radiologist noticed that not only was there no bone damage, but the density of the man’s bones were like nothing he had ever seen. So the radiologist referred the case to someone at Yale.

They discovered that the man’s family all had similar bones. And the condition had as many potential downsides as upsides. People with super dense bones have trouble floating in water, and one man who was trying to get a hip replacement found the surgery nearly impossible because doctors couldn’t get the artificial joint to attach to his real bones. 

6. Hypermobility

There’s a good chance you’ve seen pictures or videos of someone with Ehlers-Danlos Syndrome even if you didn’t know the name of the condition. They refer to this as hypermobility and it’s a genetic mutation that allows for someone’s joints to extend well beyond what is considered normal, as well as some incredibly elastic skin. If you Google it, you can find pictures of people who can bend their wrists all the way back so their fingers touch their forearms. Other people have skin so stretchy they can pull it away from their body like a sheet.

Ehlers Danlos is not all fun and games. There can be a lot of serious complications with joint and bone damage as a result. So while some people can literally pull their neck skin up over their mouth, they may also run the risk of incredible joint pain or blood clotting as well.

5. Tetrachromacy

At some point in school, we all learn about the rods and cones in our eyes. In very simple terms, they are what allow us to discern colors. We have three sets and dogs have two sets, so dogs see less color than we do. But they still see some color. And then there are animals like shrimp that have 12. That means they have to be seeing an insane spectrum of colors that our minds literally can never comprehend because we just don’t have the capacity to see more color than we do. Except for people who can.

There are no humans with shrimp-level sight, but there are some with tetrachromacy. That means they have four cones compared to the normal three and can see colors the rest of us cannot. This condition affects only women, and it has not been well studied. The reason is that it’s pretty much impossible to tell if you have it. Because how would you ever know you see more colors than other people? You don’t know how they see the world and they don’t know how you see it. If you see a brand new shade of red, and someone refers to it as red, you’ll probably go along with that, even though to you it looks vastly different than it does to everyone else. 

The reason this affects women is because of a mutation on the dual female X chromosomes. The result is a remarkable sense of color and acuity, which people just don’t realize they have. It probably also means those with the mutation have a remarkable artistic flare that the rest of us are too limited to ever appreciate. 

4. Mutant Strength

If superhero movies have taught us anything, it’s that some tweaking with radiation, super serums and genetic mutation can make anyone super strong. The weirdest part is that apparently that’s true, at least to some degree. Mutant strength is a real thing.

Everything with muscle tissue also has a protein called myostatin in it. This protein actually inhibits muscle growth. Its purpose is to sort of create a balance in how your muscle tissue is formed. But if you have less myostatin, then you will develop more muscle naturally. If you have a mutated gene that is responsible for myostatin production, then things get out of hand.

It wasn’t until 2004 when scientists first found this mutation in humans. It had been observed in some particularly muscular animals before, but 2004 was when they discovered it in a German child. The result was a boy who had some absolutely baffling muscle growth and strength.

There’s some hope that one day strength building drugs that suppress myostatin can be produced, but for now it’s just a very rare mutation that allows some people to Hulk out. 

3. The Sleeper Gene

Once upon a time, everyone was pretty confident that 8 hours of sleep was where it was at. You worked for 8 hours; you watched game shows for 8 hours; you slept for 8 hours. That was the life your parents lived. And then, over time, they gave us some wiggle room. Science declared people needed about 7 to 9 hours of sleep per night in order to be healthy. That was the popular theory. And insomnia and workaholics notwithstanding, that seems to be a good idea for most of us. But it’s not all of us.

Thanks to a mutation of the gene called DEC2, a full night’s sleep for some can be a little shorter. In 2009, researchers studied a mother and daughter who shared the same mutation. Even though everyone else in the family slept normally, the pair were able to get through a night on at most six hours of sleep. 

The mutation affects the circadian rhythms, and the result was the pair feeling fully refreshed and fine after what for others we would consider not nearly enough sleep. Ten years after that research into DEC2, the same scientists discovered a mutation of the ADRB1 gene that had the same effect  

2. Apo-AIM

You need to eat right if you want to reduce your risk of cardiovascular disease and heart attack. We’ve heard that for years. Watch your cholesterol and all that jazz. But it turns out there are very few people in the world for whom this is barely a concern at all, thanks to a rare mutation.

Every one of us has something called Apolipoprotein AI in our bodies. This is involved in how cholesterol travels through your bloodstream. If we eat too many fat, high cholesterol foods, then the protein gets a little overwhelmed, and we get clogged arteries and all those bad health problems we want to avoid. But there is a mutation of that protein called Apolipoprotein AI-Milano, otherwise known as Apo-AIM. It was observed in a population of people in Italy, hence the name, and it works like a juiced up version of the regular protein.

Those with the Milan mutation are far more resistant to heart attack and stroke than the rest of us. The Milan version of the protein is able to remove cholesterol more efficiently and scrub plaque from arteries far better. 

1. Tibetan Altitude Mutation

Anyone with plans to climb Mt. Everest is going to need a Sherpa guide to help them make the climb. But most of us probably consider this a result of the Sherpas just knowing the landscape better. We give credence to their experience, but not necessarily why they’re so adept at doing what they do. The reason is a remarkable mutation. 

A few thousand years ago, the Tibetan people moved up while the rest of the population stayed down. As these two populations continued on through generation after generations some significant changes began to arise. Now, in the present, the Han Chinese people who live in the lowland areas are nowhere near as capable of living at the altitudes that the Tibetan people can. The Tibetan population shows very clear genetic mutations that allow them to not just live but thrive at altitudes that would make those of us who live at sea level stop every few minutes to try to catch our breath.

Tibetans have a clear mutation of a gene known as EPAS1. The gene is involved in red blood cell production and the levels of oxygen in blood. Only 9% of the Han population, from whom the Tibetan population branched off all those years ago, have this gene mutation. But 87% of the Tibetans have it. It doesn’t make more red blood cells; it allows them to do more with less. 

Without this gene, if you try to live the way the Tibetans do, you’ll get altitude sickness pretty quickly. They live 4,000 meters above sea level where there’s 40% less oxygen. But because of this mutation, they are able to work just as hard as any of us at sea level.

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