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15 Genetic Mutations That Have Left Scientists Puzzled

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15 Genetic Mutations That Have Left Scientists Puzzled

Mutations are common across the human race. They are caused by the changing structure of a cell, which sometimes results in a grotesque physical deformity. While some mutations are not as apparent as others, most are extremely visible to the outside world.

Mutations happen when our DNA is damaged or changed for some reason or another. But how does this happen? Well, the DNA in our cells doesn’t duplicate properly, leading to abnormalities that our body cannot handle.

Our DNA can be damaged by UV rays, exposure to certain chemicals and of course, radiation. This is why we should all wear sunscreen on a daily basis to avoid skin cancer. Speaking of cancer, it’s actually the most common human genetic disease; it is caused by mutations occurring in a number of our genes over a certain period of time. Sometimes these cancerous genes can exist within us from birth, which significantly increases our chance of getting the horrible disease.

However, mutations are not always negative. In fact, while many mutations can be subtle or even fashionable. People nowadays are even controlling the genetic makeup of their unborn children, by playing around with the gene pool via invitro fertilization.

Here’s a list of genetic mutations that scientists can’t explain.

15. Humans Tail

This image is very thought provoking for a variety of reasons, and it is a reminder that we humans are indeed animals. We may have highly-developed brains, but at the end of the day, we’re just a bunch of savages who wear fancy clothes and drive nice cars.

This image is definitely adultered, though because humans have since lost their ability to grow tails like their animal counterparts. This is called human vestigiality, and it has a lot to do with our genetic makeup but also with our evolutionary abilities.

You see, over time, our spines adapted and shrank, and the tailbone no longer protruded from our bodies, meaning we were able to walk, run, swim and balance our bodies without the need of having a tail.

14. Progeria — Ageing Backwards

Who remembers the amazing movie Benjamin Button? Brad Pitt and Tilda Swinton did an amazing job in this film and it received a handful of Academy Award nominations. But behind the icon movie, the ‘Benjamin Button’ disease is quite real and it’s called Progeria.

People with the disease don’t live that long and usually, make it into their late teens or early twenties. Those who have the disease are usually unable to have children because their bodies are way too weak to reproduce.

Those with Progeria usually have very wrinkly skin and tend to look like elderly people. They also have a large head and typically a very small body. Since their skin is really thin, you can usually see all their veins, making them look rather sickly.

13. Uner Tan Syndrome

“What is this syndrome?” You must be wondering, well it was discovered by a Turkish biologist named Uner Tan, which leads to the name of this syndrome. Individuals impacted by this disfiguring affliction walk on all four, kind of like a gorilla. They also have trouble speaking and have some form of a mental disability.

It’s for this reason that these individuals with the syndrome need constant care, and can’t take care of themselves because they’re constantly at risk of getting injured. When Uner Tan first observed symptoms of this syndrome, he thought it was ‘reverse evolution’ because these people were walking like neanderthals. He hypothesized that perhaps these individuals contained a gene that caused them to mutate in reverse.

12. Hypertrichosis

Humans no longer need body hair, and that’s a proven fact. So the reason why we have to go get waxed at the salon is for evolutionary reasons. Back in the day, human hair kept us warm and insulated the warmest parts of our bodies.

But sometimes people have too much body hair that they can’t control. This is called Hypertrichosis, or Ambras syndrome. Individuals who suffer from this syndrome typically look like those in the picture above, with tons of hair primarily on their face and the rest of their bodies.

Throughout history, people with Ambras syndrome were persecuted and called horrendous things and were viewed as omens. While we still don’t understand why people get this disease, science has discovered that it is genetic, meaning it is inherited from our ancestors.

11. Epidermodysplasia

This disease literally looks like something out of a horror movie. Epidermodysplasia is an extremely rare skin condition that causes lesions and disfigurement. Those who have Epidermodysplasia usually have a weakened immune system and are susceptible to an array of illnesses, particularly the human papillomavirus  (HPV). When someone who has this skin condition gets infected with HPV, it causes their skin to grow scales along with painful papules on their appendages.

People with this disease have appeared on television programs around the world, considering they were usually called ‘tree people’ and were regarded for their strange appearances. There’s still no cure for the disease but doctors can treat the swollen appendages with certain medications to help ease the pain.

10. Lesch–Nyhan Syndrome

Have you ever heard of the disease called gout? It usually affects older men who eat processed meats, causing their joints to swell, rendering them completely immobile at certain times.

Well, Lesch-Nyhan (LNS) syndrome is very similar, but it only impacts children and teens. The syndrome causes a buildup of fluid and crystallized matter around their joints, causing extreme discomfort and pain. This is because they have a deficiency when it comes to the enzyme called HGPRT.

In a weird twist of events, children with LNS usually bite their fingernails and will chew violently until their teeth fall out. There’ve also been numerous reports of children with LNS banging their head violently against the wall. Very strange indeed.

The syndrome only affects males and it is extremely rare, with only one in every 380,000 getting the syndrome.

9. Ectrodactyly

This entry is a little startling, and we can understand if you feel slightly uncomfortable after looking at the image above. Essentially, people who are born with split hands (also known as cleft hands) are born with ectrodactyly. This is caused when there’s a genetic mishap when the baby is growing inside the mother’s womb, leading to the child to be born with strange appendages.

There’s also a genetic component to this disease, and it can be inherited by family members who’ve had this. There are surgical options available, in order to fix the hands or feet, but the surgery can be painful and leave a lot of scars.

Some individuals have reported getting the surgery even being able to write afterward, which is no doubt a positive aspect of treatment.

8. Proteus Syndrome

Those who get a little nauseous while looking at people’s feet should look away right now! Those with a foot fetish should enjoy this entry. Proteus syndrome is also known as Wiedemann syndrome is an extremely rare genetic disorder that causes the human body to overproduce skin and bone growth.

Individuals affected by this syndrome could get this anywhere on their body. The disease is usually progressive and children are born looking normal. This means that over time, parents begin to see certain deformities as the disease gets a lot worse.

There is a cure, though, which Australian doctors discovered not too long ago by developing a drug called ‘rapamycin.’ The drug has been proven to erase all symptoms of the syndrome. It is thought that only 120 people globally live with this horrible infliction, yet they do not have access to this crucial drug.

7. Trimethylaminuria

Have you ever sat next to somebody on the bus who smells really bad? Maybe they forgot to put on their deodorant that morning, or maybe they just have embraced their natural smell, either way, it’s not pleasant.

Imagine sitting next to some who has Trimethylaminuria? Apparently, it’s 10 times worse than anything you’ve ever smelled before in your life. People with this disease smell like rotting fish, and it’s caused by a rare issue with their metabolism.

There’s absolutely no cure for this disease, and even showering and spraying various different types of perfumes does not help the situation at all. Scientists have discovered though that certain foods can cause a reaction, which can lead to the odor to be even worse. These foods include dairy products, so if you smell like fish, stay away from the lactose.

6. Marfan Syndrome

Today, it’s in fashion to be tall and lanky, especially when you see all the models on the catwalk looking like this. But for some people, this is not a blessing, it’s a curse.

Marfan syndrome is a genetic disease, where people have elongated arms and legs, making them extra tall and thin. They usually look very sickly, especially if they have long fingers.

Marfan syndrome is hereditary and it can skip multiple generations, meaning your future child could get this. There’s no real cure for this, although if patients are in a lot of pain, they can wear braces to help control their growth spurts. The disease usually gets worse and more painful as you get older, so it’s rather crucial that you get treated almost immediately.

5. Heterochromia

The following entry is a little bit more lighthearted because it’s not debilitating. It’s even in fashion at the moment. Heterochromia is a genetic trait where your eyes are a different color. As you can see in the above image, it can affect both humans and animals, and it’s not life threatening in any way.

Several celebrities (namely Kate Bosworth and Mila Kunis) have heterochromia, meaning her left eye is blue while her right eye looks green/brown. It makes someone look extra unique, and it’s something interesting to look at on a first date.

Essentially this occurs because of the genetic components that are at play while a fetus is developing in the womb. There’s no known cure, but why would you want to erase something that is incredibly unique and beautiful.

4. Cystic Fibrosis

Cystic fibrosis is a really strange genetic disease that’s hard to explain. It usually affects the lungs but a bunch of other vital organs are also involved. Early signs of the disease include a large amount of liquid in the lungs, followed by a number of long infections.

Another strange system is that people with cystic fibrosis have clubbed hands and feet. There is no known cure for the disease, although there are a number of treatments to address all of the symptoms. This includes antibiotics for the lung infections, and asthma pumps to keep the lung passageways open and clear.

The disease primarily impacts those with Northern European ancestry, and one in every 3000 children are born with cystic fibrosis. Those with the disease usually live to the age of 50-years-old.

3. Red Hair

Who knew red hair was a genetic mutation right? Well, it’s actually super rare when you look at the statistics, considering only 2% of all humans have red hair. So, the chances of you seeing an actual redhead while walking down the street are extremely rare, so the person you probably saw was a fake redhead.

It turns out that red hair is completely genetic, and it can hide within your genetic ancestry for years without you knowing. This is why you’ll sometimes see a family of brunettes and then suddenly they have one redheaded child.

Redheads are primarily found in Europe and they tend to have really pale skin and are resistant to ibuprofen and can sense temperature changes. Redheads were persecuted throughout history because fanatics thought they were the sign of the devil. Today, it’s one of the most sought-after hair colors in the world.

2. Tay–Sachs Disease

This disease is really terrifying and sad, to say the least. Tay-Sachs disease is a rare genetic disease that causes your nerves to stop working, along with the deterioration of your mental and physical abilities. Children with the disease usually start to see symptoms around the seventh-month mark, and children with the disease typically live until the age of four.

It can be really difficult for parents to see certain symptoms in their infants, which is why it’s crucial to see the pediatrician as soon as something comes up. Children with the disease usually respond to sudden noises and appear to constantly be in a ‘startled’ state.

There are no known cases of survivors who made it into adulthood, although children who do make it past the age of four, are usually blind, deaf and unable to swallow any food.

1. Severe Combined Immunodeficiency Disorder (SCID)

Who remembers the ‘bubble boy?’ Yes, we’re talking about the old movie where the kid had to live in a bubble because he could contract a variety of illnesses in an instant. Well, the movie was hilarious, but the actual disease, SCID, is really scary.

SCID weakens your immune system to the point that you could get sick from the smallest exposure. This means you can’t enjoy even the smallest things in life, including going to the coffee shop, playing with your dog, or even eating at a restaurant.

Many doctors these days test for SCID at birth because it can be mortal for an infant, although recent data reveals the rates have decreased. There aren’t a lot of options in terms of treatment although you can take certain medications in a bid to boost your immune system.

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