Historically, for some reason, it so happened that people who were somehow different from the rest were branded as monsters and freaks. They were laughed at and mocked. However, modern science has proven that unusual appearances are only a small part of the genetic variation that exists.
One of the most well-known gene mutations is Progeria - early aging. As a rule, children suffer from it, and they do not even live to their adulthood, dying at the age of about 13 years. The cause of death in this case is a stroke or heart attack. This mutation occurs in one child in 8 million people and is caused by changes in the gene for lamin A / C (a protein that provides support to the cell nucleus). In addition, Progeria is characterized by tough skin completely devoid of hair, stunted growth, bone abnormalities and a characteristic nose shape.
Another genetic disorder is the so-called Juner Tan syndrome. It is characterized primarily by the fact that people walk on all fours, have congenital cerebral insufficiency and use primitive speech.
Hypertrichosis, which is also called "Abrams syndrome" or "werewolf syndrome", is of great interest to scientists. This genetic mutation is very rare - about once in a billion, and only 50 such cases have been documented in history. People with this pathology are characterized by an excessive amount of hair on the ears, face and shoulders. Their appearance is provoked by a violation of the connection between the epidermis and the dermis during the formation of hair follicles in a three-month-old fetus.
In 2007, the world learned about the appearance of another mutation. Then a video appeared with a 34-year-old Indonesian resident, whom doctors removed almost 6 kilograms of growths from his body. So epidermodysplasia verruciform was identified, which is characterized by the appearance on the human body of scaly papules and spots that can grow on the legs, arms and even on the face and look like warts, and sometimes resemble tree bark. Such tumors can appear on the human body at a young age. It is impossible to cure such a disease, and with the help of intensive therapy, it is possible to temporarily suspend and reduce the spread of growths.
People who are born with a mutation such as severe combined immunodeficiency do not have an effective immune system. The disease became known in 1976, when the film "Boy in a Plastic Bubble" appeared. The prototype of the protagonist was able to live with this disease until the age of 13, but after an unsuccessful bone marrow transplant, with the help of which doctors tried to strengthen the immune system, he died.
This disease is caused not by one, but by several genes, including those that cause defects in B and T cell responses that negatively affect the production of lymphocytes. Certain treatments are now possible with intensive care.
Another mutation that occurs in one child in about 400 thousand people is Lesch-Nychen syndrome, which is characterized by an increase in the synthesis of uric acid. As a result of certain chemical processes, this acid enters the bloodstream, accumulates under the skin and provokes the appearance of gouty arthritis. In addition, it can provoke the formation of stones in the bladder and kidneys. People who have this syndrome experience involuntary muscle contractions that resemble convulsions or involuntary swinging of the limbs. Sometimes people who are sick can injure themselves by biting their lips and fingers and banging their heads against hard objects.
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In people who suffer from ectrodactyly, the fingers and toes are either absent or underdeveloped, so the limbs resemble claws. Fortunately, this mutation is quite rare. The disease can manifest itself in different ways, so sometimes the fingers can be separated with the help of plastic surgery, and sometimes nothing can be helped, since the fingers are not even formed. Sometimes the mutation is accompanied by hearing loss. The causes of the disease are abnormalities in the seventh chromosome.
Another gene disorder is known as Proteus syndrome, which is caused by type I neurofibromatosis. With this disease, the patient's skin and bones can grow very quickly, as a result of which the normal proportions of the body are disrupted. Typically, Proteus syndrome can appear at about 6-18 months of age. The disease occurs once in a million people. Thus, only a few hundred such cases have been recorded in history.
The main cause of this disease is mutations in a gene that regulates cell growth, with the result that some of them begin to grow and divide at a high rate, while others continue to grow at a normal rate. As a result, normal and abnormal cells mix, causing external abnormalities.
One of the rarest genetic diseases is trimethylaminuria, but at the same time, if the person who suffers from it is nearby, it is very easy to feel it. The fact is that tritemilamine accumulates in the body of a sick person, which creates an unpleasant smell - from a person it smells of rotten eggs, rotten fish.
But one of the most common mutations is the so-called Marfan syndrome, it occurs in one in 20 thousand people. This is a disorder in the development of connective tissues. One of the forms of deviations is myopia, but more often the disease manifests itself in the disproportionate growth of bones on the arms and legs and high mobility of the elbow and knee joints. Sometimes in such patients, the ribs grow together, forming a sunken or convex chest. In addition, curvature of the spine is characteristic of such people.
There is another rather rare mutation due to which some people on the planet lack fingerprints. According to geneticists, such mutations are very simple to explain: fingerprints are formed at about 5 months of normal pregnancy. Moreover, each person has their own unique pattern, even twins. However, if at this time a woman experienced some kind of serious stress that led to a failure, then not only such minor, but also more serious mutations may appear.
These are the rarest types of gene mutations, so it makes no sense to talk about two-headed or six-fingered people.
In addition to humans, animals are also susceptible to various kinds of mutations. So, for example, in China, a calf with six legs was born, while two extra legs grew from his neck. According to veterinarians, this could happen if one fetus was absorbed by another in the womb. Whatever it was, but hundreds of onlookers from all over the country come to see the calf.
A cat with two heads from America is no less famous. When the animal was born, its owners brought the kitten to the veterinary clinic with the intention to euthanize. But he was saved by one of the employees of the clinic, who took the unusual kitten to her. Despite the disappointing forecasts, the cat has been living for more than 12 years, for which it got into the Guinness Book of Records. A cat has two mouths, three eyes and two noses, but there is only one brain.
China also has its own two-faced star in the animal world - this is a pig with one head, three eyes and two piglets. In China, the pig is considered a symbol of wealth, so she was very lucky with her place of birth. And, in addition, the piglet was born in the year of the Pig. The Chinese considered it a real gift from heaven and surrounded the unusual animal with care and honors.
But a cow from the American state of Wisconsin unexpectedly amazed everyone with her … patch. The animal has a regular nose, above which is located a second, small and very similar to a pig. At first, the owner of the cow was very scared and turned to the veterinarian for help, but after the examination he declared that she was completely healthy. The cow has become a real star, she is filmed in all sorts of TV shows, and with the money received, the owner necessarily feeds his darling with something tasty. The man was repeatedly offered to sell an unusual cow, moreover, for substantial money, but he does not intend to do this.
Another unusual animal lives in Slovakia. There is a turtle named Magdalena, which has one shell, but at the same time - two heads, five paws and two nervous systems. By the way, the name for the turtle was specially chosen so that it was divided into two - the right head was called Magda, and the left - Lena. In addition to its unusual appearance, the turtle is also famous for the fact that it has a certain tendency to providence. In 2011, she was entrusted with predicting the results of the world hockey championship: the animal had to choose which half of the hockey rink to go to. Most of the predictions came true.
However, in addition to extra limbs, some animals are still considered mutants in their appearance. In this case, we are talking about a male albino gorilla who was caught in 1966 in Spain. The animal became the real mascot of the Barcelona Zoo, where he was sold, where he lived until the end of his life. He had more than two dozen cubs, but none of them inherited a unique color. The attempts of scientists to artificially bring out the albino gorilla were also fruitless. In 2003, he had to be euthanized as the animal was in severe pain due to skin cancer.
And in Canada there is a real "jock" dog, which received the nickname "Arnold Schwarzenegger". A hound dog weighs over 25 kilograms and has such muscle mass that any bodybuilder can envy her. This is because the animal suffers from a rare gene mutation - it has several defective genes that are responsible for the production of a protein that limits muscle growth. The hound has a whopping 24 abs, instead of six. Despite such a formidable appearance, the dog is very peaceful, and most of all loves to run.
Thus, gene mutations are not only a human problem. Animals also suffer from them. And science is not yet able to determine why they happen, therefore, it cannot prevent the emergence of people and animals with mutations.