The shocking human mutation

10.04.2013


It has long been developed so that people with genetic mutations believed monsters and monsters. They frightened the children and tried to be avoided. Now we know that unusual for us to look some people — is the result of rare genetic diseases. Unfortunately, scientists have not learned how to deal with them. We offer you a selection of the ten most unusual genetic mutations that occur in humans. Fortunately, they are quite rare.

(10 photos)



1. Progeria. It occurs in one child of 8000000. This disease is characterized by irreversible changes in the skin and internal organs caused by the premature aging of the body. The average life expectancy of people with the disorder, 13 years old. Known only one case where the patient has reached the age of forty-five years. Was recorded in Japan.


2. Yunera Tan Syndrome (SYUT). People with this rare genetic defect prone to walking on all fours, have a primitive language and the lack of brain activity. The syndrome was discovered and studied biologist Yunerom Tan after meeting with the Ulas family in one of the Turkish villages. About this unusual family was shot even documentary "Family, walking on all fours." Although some scholars are inclined to think that SYUT nothing to do with the work of genes.



3. Hypertrichosis. In medieval times people with a similar gene defect called werewolves or chelovekoobezyanami. This disease is characterized by excessive growth of hair on the entire body, including the face and ears. The first case of hypertrichosis was recorded in the 16th century.



4. Epidermodysplasia verrutsiformnaya. One of the rarest genetic glitches. It makes their owners very sensitive to the widespread human papilloma virus (HPV). These people have the infection causes the growth of numerous skin growths that resemble the density of the wood. About the disease became widely known in 2007 after a video appeared on the Internet with a 34-year-old Indonesian Dede Kosvaroy. In 2008, a man underwent major surgery to remove the build-up to six pounds a head, arms, legs and trunk. Who underwent surgery on the part of the body was transplanted a new skin. Unfortunately, after a while growths appeared again.



5. Severe combined immunodeficiency. In carriers of the disease the immune system is idle. On the disease started talking after the movie "The Boy in the Plastic Bubble," which appeared on the screens in 1976. It tells of a little boy with a disability David Wetter, who is forced to live in a plastic bubble. Since any contact with the outside world for a baby could be fatal. The film ends with all the touching and beautiful happy ending. The real David Wind died at age 13 after a failed attempt of doctors to strengthen his immune system.



6. Syndrome Lesch-Nihena — increased synthesis of uric acid. In this disease, the blood flows too much uric acid. This leads to kidney stones, and urinary bladder, as well as gouty arthritis. In addition to this change, and human behavior. He observed involuntary hand cramps. Patients often bite their fingers and lips till the blood and beat their heads against solid objects. The disease occurs only in male infants.



7. Ectrodactyly. One of congenital malformations in which there are no or underdeveloped fingers of the hands and / or feet. Caused by a failure in the seventh chromosome. Often companion disease is the complete absence of hearing.



8. Proteus syndrome causes rapid and disproportionate growth of bones and skin, caused by a mutation in the gene AKT1. It is this gene is responsible for proper cell growth. Because of a failure in his work some cells rapidly grow and divide rapidly, while others continue to grow at a normal pace. This leads to an anomalous appearance. The disease is not immediately after birth, but only for six months old.



9. Trimetilaminuriya. Belongs to the rare genetic diseases. There is not even statistical data on its distribution. I suffer from this disease in the body accumulates trimethylamine. It is a substance with a sharp unpleasant odor reminiscent of rotten fish and eggs is released along with the sweat around the patient and creates an unpleasant fetid smell. Naturally, people with such genetic glitch avoid crowded places and prone to depression.



10. Marfan syndrome. It occurs in one out of twenty thousand people. In this disease, impaired development of the connective tissue. In carriers of the gene defect disproportionately long limbs and joint hypermobility. Also observed in patients with disorders of the visual system and the curvature of the spine.

 

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