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10 Rare Genetic Mutations That Give Superpowers


Genes do what we are, and sometimes they can make amazing combinations. Meet 10 rare genetic mutations that give superpowers.

Compared to many other species, all humans have incredibly similar genomes.

However, even slight variations in our genes or environments can cause us to develop traits that make us unique.

These differences may manifest in common ways, such as hair color, height, or facial structure, but occasionally a person or population develops a characteristic that clearly differentiates them from the rest of the human race.

10. Inability to have high cholesterol

While most of us have to worry about limiting our intake of fried foods, bacon, eggs, or anything that tells us it's on the "cholesterol-raising list" of the moment, some people may eat all of these things and more, without fear.

In fact, no matter what they consume, their “bad cholesterol” (low-density lipoprotein blood levels associated with heart disease) remains virtually nonexistent.

These people were born with a genetic mutation. More specifically, they do not have functional copies of a gene known as PCSK9. While generally those born with a missing gene are unlucky, in this case the fact seems to have some positive side effects.

After scientists discovered the relationship between this gene (or lack thereof) and cholesterol about 10 years ago, pharmaceutical companies have been working frantically to create a pill that blocks PCSK9 in other individuals. The drug is close to obtaining approval from the US Food and Drug Administration.

In the initial trials, patients taking the medicine experienced a 75% reduction in their cholesterol levels. So far, scientists have only found the mutation in some African Americans, and those who have this genetic trait benefit from about a 90 percent reduction in the risk of heart disease.

9. Resistance to HIV

Several kinds of things could end the human race - collisions with asteroids, nuclear annihilation and extreme climate change, just to name a few. While these Hollywood favorites are the first we remember, perhaps the scariest threat is some kind of super virus.

If a serious illness plagues the population, only the few who are immune to it would have a chance of survival. Fortunately, we know that certain people are really resistant to specific diseases. HIV, for example. Some people have a genetic mutation that disables their copy of the CCR5 protein, which the virus uses as a gateway to human cells.

Thus, if a person does not have CCR5, the virus cannot enter their cells, which makes it extremely unlikely to become infected with the disease. That said, scientists think people with this mutation are resistant but not immune to HIV. Some individuals without this protein contracted and even died of AIDS.

Apparently, some unusual types of HIV have figured out how to use proteins other than CCR5 to invade cells. This kind of skill is what makes viruses so scary. People with two copies of the defective gene are more resistant to HIV. Currently, this includes only about 1% of Caucasians and is even rarer in other ethnicities.

8. Malaria Resistance

Those who have an especially high resistance to malaria have another deadly disease: sickle cell anemia. Of course, no one wants the ability to dodge malaria just to die prematurely from deformed blood cells, but there is a situation where having the sickle cell gene pays off. To understand how this works, we need to explore the basics of both diseases.

Malaria is a type of mosquito-borne parasite that can lead to death (about 660,000 people a year) or at least make someone feel on the verge of death. Malaria does its dirty work by invading red blood cells and reproducing itself. After a few days, the new malaria parasites burst out of the inhabited globule, destroying it.

They then invade other red blood cells. This cycle continues until the parasites are stopped by treatment, body defense mechanisms or death. This process causes blood loss and weakens the lungs and liver. It also increases blood clotting, which can trigger coma or seizure.

Sickle cell anemia causes changes in the shape and composition of red blood cells, making it difficult for them to flow into the bloodstream and deliver adequate oxygen levels. However, because blood cells are mutated, they confuse the malaria parasite, making it difficult for it to attach to and infiltrate them.

Consequently, those who have sickle cell are naturally protected against malaria. You can have the anti-malarial benefits without actually having sickle cell as long as you are a carrier of the sickle cell gene. To get sickle cell anemia, one has to inherit two copies of the mutated gene, one from the father and one from the mother.

If you only have one, you have enough hemoglobin to resist malaria, even if you never develop full anemia. Due to its strong protection against malaria, sickle cell trait has become highly selected naturally in areas of the world where malaria is widespread, ranging from 10 to 40% of people with the mutation.

7. Cold tolerance

Inuits and other populations living in intensely cold environments have adapted to this extreme form of life. Have these people simply learned to survive in these environments, or are they somehow biologically different? Residents of cold zones have different physiological responses at low temperatures compared to those living in less freezing environments.

There may be at least one genetic component to these adaptations, because even if someone moves into a cold environment and lives there for decades, their body never reaches the same level of adaptation as the natives who lived in the environment for generations. For example, researchers have found that Siberian Indians are better adapted to cold weather even when compared to non-Indigenous Russians living in the same community.

Native people from cold climates have higher basal metabolic rates (about 50% higher) than those accustomed to temperate climates. In addition, they can maintain better body temperature without chills and have relatively less sweat glands on the body and more on the face.

In one study, scientists tested different ethnicities to see how their skin temperatures changed when exposed to cold. They found that the Inuit were able to maintain a higher skin temperature than any other group tested, followed by other Native Americans.

These types of adaptations partly explain why Australian Aborigines can sleep on the floor during cold nights (without shelter or clothing) without harmful effects. This is also why Inuit can live a long time in sub-zero temperatures. The human body is much better suited to adjust to heat than cold, so it is quite impressive that people can not only live, but thrive in very low temperatures.

6. Optimized for high altitudes

Most climbers who have reached the summit of Mount Everest would not have done so without a local Sherpa guide. Amazingly, Sherpas often travel ahead of adventurers to set up ropes and ladders, and only then can other climbers have a chance to reach steep cliffs.

There is little doubt that Tibetans and Nepalese are physically superior in this high-altitude environment, but what exactly allows them to work vigorously in oxygen-poor conditions, while ordinary people just have to fight to stay alive?
Tibetans live at an altitude of over 4,000 meters and are used to breathing air that contains about 40% less oxygen than at sea level.

Over the centuries, their bodies have compensated for this low oxygen environment by developing larger pectorals and increasing lung capacity, which makes it possible for them to inhale more air with each breath. And unlike those who live at low altitudes, whose bodies produce more red blood cells when not fed enough oxygen, high-altitude residents have evolved to do just the opposite, producing fewer red blood cells.

This is because while an increase in red blood cells can temporarily help a person get more oxygen to the body, it also thickens the blood over time and can lead to blood clots and other potentially deadly complications.

Similarly, Sherpas have better blood flow to the brain and are generally less susceptible to mountain sickness (also known as altitude sickness or hypobaropathy). Even when they live at lower altitudes, Tibetans still retain these characteristics, and researchers have found that many of these adaptations are not simply phenotypic variations (ie, that would revert to low altitudes), but genetic adaptations.

A particular genetic change has occurred in a portion of DNA known as EPAS1, which encodes a regulatory protein. This protein detects oxygen production and controls red blood cells, explaining why Tibetans do not overproduce red blood cells when deprived of oxygen, like ordinary people.

Han Chinese, lowland relatives of the Tibetans, do not share these genetic characteristics. The two groups separated from each other about 3,000 years ago, which means that these adaptations occurred in only about 100 generations, a relatively short time in terms of evolution.

5. Immunity to a brain disease

If you need one more reason to avoid cannibalism, be aware that eating our own species is not a particularly healthy choice. The Fore people of Papua New Guinea showed this to us in the mid-twentieth century, when their tribe suffered from a Kuru epidemic - a degenerative, fatal and endemic brain disease that spreads through the ingestion of other humans.

Kuru is a prion disease related to Creutzfeldt-Jakob disease (affecting humans) and bovine spongiform encephalopathy (mad cow disease). Like all prion diseases, the kuru decimates the brain, filling it with sponge-like holes. The infected suffer a decline in memory and intellect, personality changes and seizures.

Sometimes people can live with prion disease for years, but in the case of kuru, patients usually die within a year of showing symptoms. It is important to note that although it is very rare, a person can inherit prion disease. However, it is more commonly transmitted by ingestion of an infected person or animal.

Initially, anthropologists and doctors did not know why the kuru had spread throughout the Fore tribe. Until, in the late 1950s, the infection was found to be spreading in funeral celebrations, in which members of the tribe ingested their deceased relatives as a sign of respect, especially the brain.

Especially women and children participated in the anthropophagic ritual, and consequently the hardest hit. Before the funeral practice was banned, there were almost no young women left in some Fore villages. But not all who were exposed to the kuru died from it.

The survivors had a new variation in a gene called G127V that made them immune to brain disease. Now it is widespread among Fore and surrounding peoples - which is surprising, since the kuru only appeared in the region around 1900. This incident is one of the strongest and most recent examples of natural selection in humans. humans.

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4. Blood worth gold

Although we often say that Type O blood is universal and anyone can receive it, this is not the case. In fact, the whole system is a little more complicated than many of us realize. There are eight basic blood types (A, AB, B, and O, each of which can be positive or negative). But that is not all. There are currently 35 known blood group systems, with millions of variations in each system.

Blood that does not fit into the ABO system is considered rare, and those who have this blood have a hard time finding a matching donor when a transfusion is needed. Still, there is rare blood, and there is very rare blood. Currently, the rarest blood type is known as "Rh-null". As its name suggests, it does not contain Rh system antigens.

The lack of some Rh antigens is not uncommon. For example, people who do not have the Rh D antigen have “negative” blood (eg, A-, B-, or O-). Still, it is extremely extraordinary that someone does not have a single Rh antigen. It is so extraordinary, in fact, that the researchers found only about 40 people on the planet with Rh-null blood.

However, this blood is far ahead of O in terms of being a universal donor, since even negative O blood is not always compatible with other rare negative blood types. Rh-null works with almost any blood type. Upon receiving a transfusion, our bodies probably reject any blood that contains antigens we do not have.

Since Rh-null blood has no Rh antigens, it can be donated to just about everyone. Unfortunately, there are only about nine donors of this blood in the world, so it is only used in extreme situations. Because of its limited supply and tremendous value as a potential lifesaver, some doctors have referred to Rh-null as the “golden blood”.

In some cases, they even tracked anonymous donors (which should not be done under any circumstances as anonymity is not insignificant) to request a sample. Those who have Rh-null blood undoubtedly have a bittersweet existence. They know that their blood is literally a lifesaver for others with rare blood, but if they need blood themselves, their options are limited to donations from just nine people.

3. Crystal clear underwater view

Most animal eyes are designed to see things under water or in the air - not both. The human eye, of course, is adept at seeing things in the air. When we try to open our eyes underwater, things look blurry. This is because water has a density similar to the fluids in the eyes, which limits the amount of refracted light that can pass into the eye.

Low refraction equals diffuse vision. This knowledge makes it even more surprising that a group of people, known as Moken, has the ability to see clearly underwater, even at depths up to 22 meters. The Moken spend eight months of the year on boats or stilts.

They only return to land when they need essentials, which they purchase by bartering food or shells collected from the ocean. They draw resources from the sea using traditional methods, which means that they do not use modern fishing harpoons, masks or diving equipment.

Children are responsible for collecting food, such as shellfish or sea cucumbers, from the ocean floor. Through this repetitive and constant task, your eyes are now able to change shape when underwater to increase the refraction of light. Thus they can easily distinguish between edible mollusks and ordinary rocks, even when they are many meters below water.

When tested, Moken children had twice as clear underwater vision as European children. However, it seems that this is an adaptation we can all have if our environment requires it, as researchers have been able to train European children to perform underwater tasks as successfully as Moken.

2. Super Dense Bones

Growing old comes with a lot of physical problems. One common is osteoporosis, mass loss and bone density. The disease leads to inevitable bone fractures, broken hips and curved spine - which is not a pleasant destination for anyone. Still, not all is bad news, as a group of people have a unique gene that may contain the secret to curing osteoporosis.

The gene is found in the Afrikaner population (Dutch-born South Africans), and causes people to gain lifelong bone mass rather than lose it. More specifically, it is a mutation in the SOST gene that controls a protein (sclerostin) that regulates bone growth.

If an afrikaner inherits two copies of the mutated gene, it develops sclerosteosis, which leads to severe and excessive bone growth, gigantism, facial distortion, deafness and early death. Obviously, the disorder is much worse than osteoporosis. However, if they only inherit one copy of the gene, besides not having sclerosteosis, they simply have especially dense bones all their lives.

Although heterozygous carriers of the gene are currently the only ones benefiting from these advantages, researchers are studying afrikaners' DNA hoping to find ways to reverse osteoporosis and other bone diseases in the general population. Based on what we have learned so far, they have already begun clinical studies with a sclerostin inhibitor that is capable of stimulating bone formation.

1. Need for little sleep

If sometimes it seems that some people have more hours in the day than you, they may actually have - or at least spend more awake hours. This is because there are unusual individuals who can operate with six or less hours of sleep per night. They are not just doing it.

They thrive on this limited amount of sleep, while many of us still need to crawl out of bed after sleeping for eight solid hours. These people are not necessarily tougher than the rest of us. Instead, they have a rare genetic mutation of the DEC2 gene, which makes them physiologically need less sleep than the average person.

If individuals without this mutation always decided to sleep six hours or less, they would begin to experience negative impacts almost immediately. Chronic sleep deprivation can lead to serious health problems such as high blood pressure and heart disease. Those with the DEC2 mutation do not have any of the problems associated with sleep deprivation, despite the short time their heads spend on the pillow.

While it may seem strange that a single gene changes what we believe to be a basic human need, those who study the DEC2 mutation think it helps people sleep more efficiently with more intense REM states. Apparently when we have better sleep, we need less sleep.

This genetic anomaly is extremely rare and is found only in less than 1% of the population claiming to need little sleep - these account for only 5% of the world's population. So even if you think you have this genetic change, you probably just got used to getting a little sleep.

Source: www.ciencia-online.net