Abilities acquired as a result of rare human genetic mutations

When compared with many other species, all people possess incredibly similar genomes. However, even small changes in our genes or our environment can lead to the development of traits, which make us unique. Sometimes these differences manifest themselves in the form of hair color, growth or facial structure, but sometimes a person or whole people get significant differences from other representatives the human race.

When cholesterol does not rise

Abilities acquired as a result of rare genetic mutations in humansA photo from open sources

Although most of us are not worried about limiting eating fried foods, eggs, or other items on the list “cholesterol-enhancing food”, some people generally can eat everything this without worrying about anything at all. No matter what such people consume, “bad cholesterol” remains practically on zero.

These people were born with a genetic mutation. They lack workers copies of a gene known as PCSK9, and although usually born with missing gene – not good, in this case there are certain positive effects.

Once scientists have discovered a link between this gene (or its lack) and cholesterol about 10 years ago, pharmaceutical companies began working on a pill that would block PCSK9 in other individuals. The drug is almost ready for FDA approval. In early studies, patients who experienced it lowered cholesterol by 75%.

So far, scientists have discovered these mutations in only a few African Americans they also have a 90% reduced risk of developing cardiovascular disease.

HIV resistance

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The human race can be destroyed too much: the fall asteroid, nuclear destruction, extreme climate change – the list goes on. One of the worst threats remains the possibility of the appearance of scary viruses. If the population hits a new disease, only some may be immune. TO fortunately, we have facts that certain people have resistance to a certain type of disease.

Take HIV, for example. Some people have a genetic a mutation that disables their copies of the CCR5 protein. HIV uses this squirrels like a door to a human cell. Therefore, if a person does not have CCR5, HIV cannot enter its cells, and in humans it is extremely there is little chance of getting sick.

Scientists say people with this mutation are more stable than completely immune to HIV. Some people without this protein got and even died of AIDS. Apparently, some unusual types of HIV figured out how to use other proteins to penetrate the cells. It is the ingenuity of viruses that scares us most.

Malaria resistance

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Those with particularly high resistance to malaria, are carriers of another deadly disease: sickle cell anemia. Of course, few would want to be resistant to malaria to die prematurely from bad blood cells but this is a clear situation when the presence of sickle cell anemia pays off. To understand how this works, we must study the fundamentals of both diseases.

Malaria is a type of mosquito-borne parasite that can lead to death (about 660,000 people die each year from malaria) or done very badly. Malaria does its dirty work by invading and reproducing in red blood cells. A few days later, new malaria parasites break out of populated blood cell, destroying it.

Then they penetrate into other red blood cells. This cycle continues until parasites stop treatment, the body’s defense mechanisms or death. This process leads to blood loss and weakens the lungs. and the liver. It also increases blood coagulation, which may provoke coma.

Sickle cell anemia causes changes in shape and composition red blood cells, it’s more difficult for them to go through the blood stream receive a normal amount of oxygen. Also due to mutation cells, they interfere with the malaria parasite, it is more difficult for him to penetrate blood cells. So people with sickle cell anemia naturally protected against malaria.

You can get anti-malarial benefits even without the sick. cells while carrying the sickle cell gene. To obtain sickle cell anemia, a person must inherit two copies mutant gene, one from each parent. If he gets only one, he will have enough abnormal hemoglobin, to fight malaria but full anemia never will develop.

Cold tolerance

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Eskimos and other groups of people who live in extreme cold conditions, adapted to an extraordinary lifestyle. These people have learned to survive in such conditions or just differently. biologically arranged?

Residents of cold places exhibit excellent physiological reactions at low temperatures, when compared with those who live in more soft conditions. In addition, it seems that it should at least partially present the genetic component in this adaptability; because even if someone else gets over into a cold environment and will live there for many decades, his body will never reach the same level adaptations like locals who live in such conditions generations. Scientists have found that native Siberians are better adapted to the cold, even compared to the Russians living in their society.

This adaptation partly explains why Native Australians can sleep on the ground on cold nights (without blankets and clothes) and Feel great and why are the Eskimos most of their lives can live in freezing temperatures.

The human body is more adapted to live in warmth than in cold, so it’s amazing that people can live in the cold, not to mention prosperity.

Accustomed to height

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Most climbers who climbed Everest do not would do it without the help of pioneers. Sherpas often go ahead of adventurers, setting ropes and ladders. There are no doubt that Tibetans and Nepalese physically feel better on top. But what specifically allows them to work actively in oxygen-free conditions where the rest of the guys just want to stay alive?

Tibetans live above 4,000 meters and are used to breathing air, which contains 40% less oxygen than at seas. Over the centuries, their bodies have developed, compensating for lack of oxygen, developing large lungs and breasts to more air could be inhaled with each breath.

Unlike people living in the plains, whose bodies produce more red blood cells in low oxygen, at at height, people have evolved, doing the exact opposite: produce less blood bodies. The fact is that although the increase red blood cell numbers may temporarily help a person increase the flow of oxygen into the body, over time they accumulate in the blood and lead to the formation of clots that can be deadly dangerous. In addition to this, Sherpas have good blood flow in brain and generally less susceptible to altitude sickness.

Even living at lower altitudes, Tibetans are still support these features; scientists have found that many of these adaptations are not just phenotypic abnormalities (i.e. for some reason do not appeal at low altitudes), but genetic adaptation.

In the DNA region known as EPAS1, one genetic a change that encodes a regulatory protein. This protein detects oxygen and controls red blood production cells explaining why Tibetans do not overproduce red blood cells when they lose oxygen, unlike ordinary people.

The Han people, the plains relatives of the Tibetans, do not share these genetic characteristics. These two groups are roughly divided three thousand years, which suggests that these adaptations have occurred about 100 generations ago is a relatively short time in framework of evolution.

Kuru Brain Disorder Immunity

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If you need any other reasons to avoid cannibalism, eating each other is not very healthy. People Foret from Papua New Guinea showed us this in the mid-20th century, when his tribe survived Kuru epidemic – a degenerative and fatal brain disease, which spread when people ate each other.

Kuru is a disorder related disorder Creutzfeldt-Jakob in humans and spongiform encephalopathy (cow rabies) in cattle. Like all prion diseases, kuru empties the brain, filling it with spongy holes. Infected suffers from decreased memory and intelligence, personality changes and cramps.

Sometimes people can live with prion disease for many years, but in the case of kuru, the sufferer usually dies within a year. It is important to note that, although very rare, a person can inherit this disease. More often it is transmitted by eating. an infected person or animal.

Initially, atropologists and doctors did not understand why Kuru distributed throughout the foret tribe. Finally, in the late 1950s, it was discovered that the infection is transmitted at funeral feasts where tribal members use their deceased relatives out of respect. Women and children take part in the ritual. Accordingly, they are among the most affected. Before similar burial practice was banned; in some villages foret is almost there are no girls left.

But not everyone who encountered the kuru died from this disease. At the survivors were changes in a gene called G127V, which made them immune to brain diseases. Now this gene is widely spread to the foretelling and people around the people.

Golden Blood

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Although you’ve probably heard of O-type blood as universal the blood that anyone can get is not so simple. All the system is much more complex than any of us can imagine.

There are eight main types of blood (first, second, third, fourth or A, AB, B and O, each of which may be positive or negative), 35 are currently known groups of blood systems with millions of variations in each system. Blood that does not enter the ABO system is considered rare, and people with such blood, it’s very difficult to find a suitable donor if need a transfusion.

However, there is rare blood, and there is very rare blood. Most an unusual type of blood known now is Rh-zero, or rhesus zero. As the name suggests, such blood does not contain no antigens in the Rh system. It’s not uncommon that a person lacks certain Rh antigens. For example, people without Rh D antigen possesses “negative” blood (i.e. A-, B- or O-). However, it is very unusual to have no antigens at all. Rh. It is so unusual that scientists counted only about 40 individuals on a planet with zero rhesus blood.

What makes this blood interesting is that it is completely superior to O-type blood in the sense of universality, since even O-negative blood is not always compatible with other types of rare negative blood. Rh-null, however, is compatible with almost any type of blood. The fact is that when transfusing our bodies, rather total, will refuse any blood that contains antigens that we do not have. And since Rh is zero blood has zero antigens A or B, it can be transfused practically to everyone.

Unfortunately, there are only nine donors of this blood in the world, therefore, it is used only in extreme situations. Doctors call this blood “golden.” Sometimes they even look for anonymous donors to ask for a sample of such blood. The problem is that if such donors themselves need blood, they will have to choose of the eight remaining donors, which is hardly possible.

Crystal clear underwater vision

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The eyes of most animals are designed to see things under water or air – but not in both environments. Human eye of course adapted to see objects in the air. When we open eyes under water, everything looks blurry. This is because water has a similar density with fluids in the eyes that limits the amount of refracted light that can enter into the eye. A low level reflects and leads to blurred vision.

A group of people known as moken can see clearly under water even at depths of up to 22 meters. Moken spend eight months of the year on boats or in stilt houses. On the ground they go only for necessities that are acquired by barter, for food or seashells from the ocean.

They collect marine resources using traditional methods, they have no fishing rods, masks or underwater equipment. Children responsible for collecting food, shellfish and sea cucumbers from the bottom of the sea. Due to the constant implementation of such tasks, people’s eyes have adapted change shape under water to increase light reflectance. Thus, even children can distinguish edible mollusks from ordinary stones, even being deep under water.

Experiments have shown that Moken children see twice as much under water than ordinary European children. However, since this is an example adaptation, each of us can acquire the skill of the people is wet.

Super dense bones

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Aging is inevitably associated with the appearance of a mass of physical problems. A common example is osteoporosis, bone loss, and density. It leads to inevitable bone fractures, broken hips and protruding humps. However, a group of people possesses a unique gene in which the secret of the treatment of osteoporosis is hidden.

This gene was found in a population of Afrikaners (South Africans with Dutch origin). It leads to the fact that people increase bone mass throughout life and not lose her. More specifically, this is a mutation in the SOST gene, which controls protein (sclerostin), which regulates bone growth.

If an Afrikaner inherits two copies of a mutant gene, he gets sclerosis disorder, which leads to bone proliferation tissue, gigantism, paresis of the face, deafness and early death. Clear, that this disorder is worse than osteoporosis. But if Afrikaner inherits just one copy of the gene, it just gets dense bones for the whole a life.

Although at present the benefits of this gene are used only its heterozygous carriers, scientists study the DNA of Afrikaners hoping to find ways to reverse osteoporosis and others skeletal disorders. Based on the knowledge already gained, scientists have begun clinical trials of a sclerostin inhibitor, which able to stimulate bone formation.

Need some sleep

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If you ever thought that some people had more hours in a day than you, it is quite possible that it is. The thing is that there are unusual people who are enough for six or less hours of sleep daily. And they do not suffer from it, while the rest are ready to give everything at least for an extra hour naps.

These people do not have to be stronger than us and they don’t trained to “hold on.” They may have a rare genetic mutation of the DEC2 gene, which leads to the fact that they are physiologically need less sleep than the average person.

If ordinary people sleep for six or less hours, they begin to experience negative effects almost immediately. Chronic lack of sleep can even lead to health problems, including including high blood pressure and heart disease. In people with mutation of the DEC2 gene there is no problem associated with a decrease sleep

This genetic anomaly is extremely rare – less than in 1% of people who claim that they don’t need to sleep much. Unlikely you are one of them.

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