Genetic Abnormalities: People Who Do Not Feel Pain And See Without Eyes - Alternative View

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Genetic Abnormalities: People Who Do Not Feel Pain And See Without Eyes - Alternative View
Genetic Abnormalities: People Who Do Not Feel Pain And See Without Eyes - Alternative View

Video: Genetic Abnormalities: People Who Do Not Feel Pain And See Without Eyes - Alternative View

Video: Genetic Abnormalities: People Who Do Not Feel Pain And See Without Eyes - Alternative View
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Homo sapiens is endowed with a harmonious set of senses to adequately perceive and explore the world around him, and skillful hands to transform reality around him. However, sometimes nature invades this debugged interface, and then strange things happen …

Let the eye have an imperfect structure, let its retina be absurdly twisted by light-sensitive cells not to light, but quite the opposite. The shortcomings of this design, borrowed from the primitive chordates of the Cambrian period, are compensated for by the brain, which learned to bring to mind a low-quality picture millions of years before the advent of computer photo editors. As you know, the eye focuses the resulting image on the retina in an inverted form, but the brain copes here too, as a result of which we invariably get a picture of the correct orientation. There is a known experiment in which the subjects put on glasses with inverting lenses. After several days of forced inconvenience, the brain again put the image as it should. At the next stage of the experiment, the glasses were removed, and the subjects again suffered with an inverted picture. And again not for long, exactly that time,which the brain needed to adapt. But everything happens so relatively easily only when the brain itself is not experiencing problems.

The more complex the system, the greater the likelihood of failures and the more unpredictable their result. Problems in the work of the brain and errors in the genetic code cause oddities in a person's relationship with the surrounding reality
The more complex the system, the greater the likelihood of failures and the more unpredictable their result. Problems in the work of the brain and errors in the genetic code cause oddities in a person's relationship with the surrounding reality

The more complex the system, the greater the likelihood of failures and the more unpredictable their result. Problems in the work of the brain and errors in the genetic code cause oddities in a person's relationship with the surrounding reality.

At a different angle

However, there is a medical disorder known as Room tilt illusion. Its essence is that the patient suddenly begins to see the world around him from a certain angle. The angle can be small - about 20 degrees, and it can go up to 90. Sometimes the image just flips around the horizontal axis, in other words, the top changes places with the bottom. And finally, the rarest option is the perception of a picture in a mirror image. Such a frightening phenomenon for a person can last from several minutes to several hours. Doctors usually associate this syndrome with all sorts of lesions of the brain column or the occipital-parietal region, as well as with migraines. Regardless of the specific reason, we are obviously talking about a conflict between the visual and vestibular information entering the brain. It is no coincidence that the illusion of inclination of space is usually accompanied by dizziness and impaired spatial orientation. In other words, the brain, having incorrectly interpreted vestibular information, tries to adjust visual perception to these false data.

Rubber leather

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To extract some tangible benefit from the mockery of nature, since there is nothing else to be comforted, people have learned in time immemorial.

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Golden age. Freak shows flourished in the 19th century, when people with unusual disabilities were not only very popular, but also made a lot of money. In our more humane time, focusing on physical disabilities and even more so making them a highlight of entertainment events is no longer so accepted, although today there are celebrities in this area.

Freak record holder. The Englishman Harry Turner from Lincolnshire knows how to cover half of his face with skin from his neck, wear four mugs of beer on the drawn skin from his belly, and much more that may seem funny and funny to someone. In 1999, Harry entered the Guinness Book of Records as the owner of the most elastic skin in the world. In appearance, the cover of his body resembles a thin rubber. The subject of special pride is the skin on his stomach, which Harry pulls off by as much as 15, 8 cm. Harry is written about in the press, he is shown on the Discovery Channel, and the Briton himself does not seem to be shy about his popularity, the reason for which is one of the rarest varieties of Ehlers syndrome -Danlos.

Pros and cons. Skin hyperelasticity is caused by a lack of a protein called callogen caused by a genetic mutation. Mr. Turner is under regular medical supervision. The doctor has repeatedly warned the patient that with age, the unusual properties of his skin will bring more and more troubles to his health.

By the way, one of the most common manifestations of the conflict between visual and vestibular data, we see in the banal motion sickness in the back seat of a car. If vision is riveted to a fixed point of the salon or to a page of a book, and vestibular sensors report complex movements in space, this becomes one of the reasons for the problems associated with motion sickness.

The illusion of inclined space should not be confused with the effect that is well known to astronauts who have taken part in flights in spacecraft or at least trained in artificial zero gravity on board an aircraft. During the transition from overloads to weightlessness, even these healthy and trained people have an unpleasant sensation of hanging upside down, although there is no bottom in terms of the direction of the earth's gravity in weightlessness. The difference is that a person experiencing the sensation of an inverted vision adequately perceives the positioning of his own body - he does not feel that he is looking at the world while standing on his head. Such an unusual separation of the body from the surrounding space is somewhat related to this illusion with autoscopic hallucinations, during which a person observes his double in front of him. In the variant of cheautoscopic hallucination, he also feels the presence of his own “I” in the double.

Gate of pain

The figure below is a simplified diagram of the ion channel that penetrates the membrane of a nerve cell. In response to the action of a certain stimulus, the channel opens, allowing the positive ion to pass into the membrane.

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The transmission of signals by nerve cells depends on channels with adjustable permeability - the so-called channels with "gates". In addition to sodium channels, other channels that conduct potassium, chlorine and calcium ions act as receptors - these ions also produce a shift in the membrane potential. Distinguish between ion channels with ligand-dependent gates (that is, letting ions through the membrane upon external contact with a chemical substance specific for this channel - a ligand) and channels with potentially dependent gates that respond to changes in membrane potential.

Migraine visions

Migraine, which was already mentioned above, is a disease of an incompletely understood nature that can cause other unusual visions. With a migraine, a person suffers from severe headaches, which are sometimes accompanied by hallucinations like the Alice in Wonderland syndrome: this fabulous girl, as you know, at the behest of the author, encountered space-time paradoxes. With the manifestation of the syndrome, objects and distances change their real scale: the TV remote control may seem gigantic, the TV itself - tiny, and the walls and ceilings - far, far away. Hypertrophied sizes sometimes take in these visions and body parts of the hallucinating person himself - for example, fingers and limbs are stretched to incredible sizes. Also, the sense of time is usually lost. Such transformations, of course,suggest the effect of certain drugs on the psyche, however, Alice's syndrome has been recorded in people who have nothing to do with drugs.

Real batman

The most famous case of human echolocation was an American named Ben Underwood.

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As you know, bats know how to navigate in the dark using echolocation. They emit a kind of "chirp" made up of constant frequency tones. When approaching the prey insect, they are replaced by modulated tones with a rapidly decreasing frequency. Reflections of sounds from obstacles or from victims "paint" a picture of the world to the bat. People also have the ability to echolocate. These abilities are especially pronounced in those born blind or who have lost their sight at an early age. Born in 1992, Ben lost his sight at the age of three due to retinoblastoma, an eye cancer. This is a rather rare and purely childhood disease; the main life-saving method is the amputation of the eyeballs. The boy showed amazing abilities: from the age of six he stopped using a cane, learned to ride a skateboard and a bicycle,guided unmistakably, took objects, could describe the environment.

Mother believed that Ben saw with divine sight - until Ben's abilities caught the eye of doctors. He was researched and trained; the teacher was the developer and popularizer of human echolocation - American Daniel Kish, a certified teacher, whose lessons are used by thousands of blind people around the world. He developed his method around 1996-1997 and has always argued that Ben is the most capable of his students. Ben navigated his surroundings, clicking his tongue and catching sound reflections of clicks from objects. In all documentaries where Ben took part, his abilities are amazing: it is rather difficult to guess about the hero's blindness. Ben moved confidently, swam, drove a scooter, met a girl; he read a lot (of course, in Braille), wrote science fiction stories himself and invented concepts of computer games for the blind. But on January 19, 2009, Ben Underwood died: the cancer still did not let him go.

Today, several more "human sonars" are known, all of them are Kish's students: the born blind Englishman Lucas Murray, the Belgian Tom de Witte, who was blinded at the age of thirty, and others.

Brain disorders sometimes lead not only to impaired visual perception, but also to "autonomization" of individual parts of the body, as it happens in cases of manifestation of the syndrome of the alien hand. This disorder often occurs in people who have undergone surgery to surgically separate the hemispheres of the brain - this measure is used to relieve the patient of suffering from severe forms of epilepsy. The syndrome is also observed in other brain lesions, and depending on the localization of the lesion, its manifestations have their own specifics. The essence of the phenomenon is that a person, continuing to feel the hand with a part of his body, loses control over it. If, for example, this effect is caused by problems in the frontal part of the brain, then the hand can grab an object and hold it, and the owner of the hand is not able to open the fingers by volitional effort - they have to help with the other hand. Lesions of the occipital-parietal region, on the contrary, force the naughty hand to avoid contact with nearby objects - it will pull the hand back all the time. The third option - one obedient hand does something at the will of the owner, while the other begins to perform some completely unrelated actions or even interfere with the other hand. The hand that does not obey its master has entered modern culture as an interesting and paradoxical image - references to this neuropsychiatric disorder can be seen both in the old Stanley Kubrick film about Dr. Strangelove, and in the modern near-medical TV saga about Dr. House. The third option - one obedient hand does something at the will of the owner, while the other begins to perform some completely unrelated actions or even interfere with the other hand. The hand that does not obey its master has entered modern culture as an interesting and paradoxical image - references to this neuropsychiatric disorder can be seen both in the old Stanley Kubrick film about Dr. Strangelove, and in the modern near-medical TV saga about Dr. House. The third option - one obedient hand does something at the will of the owner, while the other begins to perform some completely unrelated actions or even interfere with the other hand. A hand that does not obey its master has entered modern culture as an interesting and paradoxical image - references to this neuropsychiatric disorder can be seen both in the old Stanley Kubrick film about Dr.she entered modern culture as an interesting and paradoxical image - references to this neuropsychiatric disorder can be seen both in the old Stanley Kubrick film about Dr. Strangelove, and in the modern medical TV saga about Dr. House.she entered modern culture as an interesting and paradoxical image - references to this neuropsychiatric disorder can be seen both in the old Stanley Kubrick film about Dr. Strangelove, and in the modern near-medical TV saga about Dr. House.

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Anesthesia gene

All these strange sensations, illusions and hallucinations associated with the perception of time and space occur in some people at a certain stage in life, are the result of acquired diseases or disorders, and usually last for a short period of time. There are, however, a small number of people on Earth with whom nature joked especially cruelly. Their ailment, associated with a defect in sensitivity, lives with them from birth and is especially dangerous in those years when a person is not yet able to clearly and constantly control his actions. It is about congenital insensitivity to pain. Pain, as you know, although it gives us the most unpleasant sensations, however, is the most important signaling device that informs the body of impending danger. Without these signals, an adult, and especially a child,can quietly inflict a serious wound on himself, get a severe bruise without even thinking about its traumatic consequences, or, for example, drink boiling water without feeling the burning pain usual in such cases.

The artist demonstrates fantastic joint flexibility by putting himself in a small box. What does it take to repeat a trick like this? Congenital elasticity of the ligaments or skills acquired through long training? Or maybe - both?
The artist demonstrates fantastic joint flexibility by putting himself in a small box. What does it take to repeat a trick like this? Congenital elasticity of the ligaments or skills acquired through long training? Or maybe - both?

The artist demonstrates fantastic joint flexibility by putting himself in a small box. What does it take to repeat a trick like this? Congenital elasticity of the ligaments or skills acquired through long training? Or maybe - both?

The cause of these abnormalities is genetic disorders. The mechanism of translation of pain sensations is associated with the passage of sodium ions through the ionotropic receptors located in the cell membrane, or the so-called sodium channels. Sodium channels are formed by a special kind of protein and have two states - open and closed. Penetrating into the membrane through the channel, sodium ion changes the distribution of electrical charge between the external and internal environment, which serves as the basis for the emergence of a nerve impulse, which is ultimately processed by the brain. If the channel does not work properly and opens too easily, the person will constantly feel pain; if the channel turns out to be insensitive to the corresponding stimuli and does not open, the pain signal cannot arise and the brain remains in the dark.

One of the characters in this drama is the SCN9A gene, which encodes the Nav1.7 protein, and the latter forms sodium channels in cell membranes. In particular, a mutation of this particular gene is the cause of a rare angiotrophoneurosis - erythromelalgia. People with this condition find it difficult to wear shoes, as heat and light pressure are interpreted by the body as irritating, and the skin of the legs turns red and experiences burning pain. A very unusual effect of one of the SCN9A mutations was observed several years ago by a group of researchers led by Professor Jeffrey Woods (Cambridge). Their attention was attracted by the story of a boy who lived in the northern part of Pakistan and amused onlookers with blood-curdling tricks. With a smile on his face, he stabbed his hand with a knife, walked over hot coals and glasses. Unlike professional illusionists,the boy bore the terrible marks of these performances in the form of wounds and cuts, but they did not seem to give their owner the slightest concern. While scientists were trying to get to the only one, the guy died, deciding to demonstrate to his peers that he could jump from the roof of a tall house and remain unharmed.

In view of the tragic death of the main object of scientific interest, the British tracked down the boy's relatives and found that they also almost did not feel pain. The cheeks and lips that had been bitten in childhood were vivid evidence of the congenital disorder. After conducting genetic research, scientists came to the conclusion that they are dealing with the SCN9A mutation. And what is surprising - in this case, the changed gene did not cause any specific disorder such as erythromelalgia, but simply turned off completely all sodium channels responsible for pain. At the same time, family members of the deceased Pakistani could easily distinguish between, for example, warm and cold food, since the sensation of temperature, not associated with pain, is transmitted through other receptors. But as soon as the heat became scalding, the pain signals did not pass - the receptors did not respond.

Construction defect

Another disorder of a genetic nature, Ehlers-Danlos syndrome, makes it very difficult for a person's life and his interaction with the outside world. The art of contortionists - circus performers who demonstrate flexibility of joints unattainable for an ordinary person - causes shock and admiration. How can an adult bend back, wrapping his arms around his shins, or tuck himself entirely into a tiny glass box? Of course, the increased elasticity of the ligaments is achieved by persistent training, and although most contortionists from childhood had a predisposition to superflexibility, we are not always talking about some pathological properties of the body. However, Ehlers-Danlos syndrome from birth "gives" to individuals weak and extensible ligaments, their hyper-movable joints are prone to dislocations, subluxations and sprains. It's all about genetic mutations that lead to insufficient production in the body of collagen - the most abundant protein in the mammalian body. This fibrous protein forms the basis of connective tissues in the body, including bones, cartilage, tendons, vascular walls, and skin. Thus, a person suffering from Ehlers-Danlos syndrome, more precisely, one of its variants, called hypermobility, constantly endangers his musculoskeletal system, which is unable to withstand the loads easily tolerated by healthy homo sapiens. Just as in the case of congenital insensitivity to pain, there is no cure for this ailment. It is necessary to observe precautions all your life, and, if possible, to derive some benefit from the unusual properties of the body. In the end there is a hypothesisaccording to which the great Paganini suffered from Ehlers-Danlos syndrome, which allowed him to run his fingers along the violin neck with unusual dexterity.

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