Check Out Most Unusual Genetic Mutations In Humans

March 20, 2017 Author: Diksha Jani
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    Most Unusual Genetic Mutations In Humans

    Check Out Most Unusual Genetic Mutations In Humans

    Due to the subtly different ways our genomes are expressed. But sometimes these biological differences lead to genetic mutations that are extremely rare, and sometimes debilitating.

    Historically, many people suffering from these mutations were labeled monsters or freaks but today, we know they are simply part of the broad spectrum of genetic variations in our species. Here are most unusual genetic mutations we've identified in humans.

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    Giant Pigmented Nevus

    Pigmented are normally known as beauty mars. Some get them removed, while others suffer from them. In reality, pigmented nevus is nothing more than a mole, and predominantly benign; nothing if not a minor eye sore.

    Many people have suffer from this disease in which the people born with black moles all over his body, as he aged the moles on back and shoulders and chest began to grow massive in size and produced thick black hair.

    This can be remove with the help of the medical treatment, but many people can't afford this kind of treatment and care.

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    Ectrodactyly

    These split-hand/split-foot malformations are rare limb deformities which can manifest in any number of ways, including cases including only the thumb and one finger.

    It’s also associated with hearing loss. Genetically speaking, it’s caused by several factors, including deletions, translocations, and inversions in chromosome 7.

    It happens normally where the middle finger or toe should be and thankfully with the help of surgical procedure this kind of malfunction can me correct.

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    Epidermodysplasia Verruciformis

    This is also one of the incurable disease in which the appearance of the skin literally turning into tree bark which is horrible.

    The most dangerous condition is the HPV virus. Due to this virus only skin turns into the barks of the trees. This virus is also known for the high risk of skin cancer.

    The 34-year-old Indonesian Dede Koswara. He has been profiled on reality television shows on TLC and Discovery, and due to his television appearances actually received treatment for his extremely debilitating genetic condition known as epidermodysplasia verruciformis.

    After the lot of treatment Dede Koswara had nearly 95 percent of his ‘tree bark’ removed, much of it has grown back, and Koswara has endured three further medical procedures to keep them at bay.

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    Fibrodysplasia Ossificans Progressiva

    This is another incurable disease in which skeletal system slowly turning you into what essentially amounts to stone.

    It is a disease of the connective tissue that causes the body to ‘repair’ damaged tissues by re-growing them as bone.

    In some cases, the body will ossify soft tissue without any damage even being done to muscles or tendons. When surgery to remove the unwanted bone growth has been attempted, the body will still re-grow bone instead of tissue; it truly is a skeletal prison for the afflicted.

    The patients of this disease have also to suffer form the heart disease and it is incurable. It is extremely rare with only an estimated 1-2 million people suffering from it worldwide.

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    Lesch Nyhan Syndrome

    LNS is a genetic disorder that affects one in every 380,000 births, nearly all of them boys. It results in an overproduction of uric acid — a waste product of normal chemical processes that’s found in blood and urine.

    Lesch-Nyhan release excess uric acid through their blood which builds up under the skin causing gouty arthritis. It can also cause kidney and bladder stones.

    This disease also affects neurological function and behavior. Individuals exhibit involuntary body movements, like tensing muscles, jerking movements, and flailing limbs.

    Self-mutilating behaviors are also common, including head banging, and lip and finger biting. The treatment of this disease will be found and it is curable.

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    Neurofibromatosis

    Neurofibromatosis generally appears in childhood and it is incurable. It is inherited genetic disorder and cause from skin disorders, to neurological impairment, and even malignant tumors.

    The most common symptoms appear on the skin; brown spots may cover the body, freckling may occur, particularly in the armpits and groin, most disturbingly, massive amounts of soft, benign tumors grow just beneath the skin, almost giving the appearance of what one would think of as the skin of a toad.

    Neurofibromatosis also may produce lesions in the eye, a curved spine, bowed legs and a shorter than average height coupled with a larger than average head.

    This is a cruel genetic disorder that not only affects one’s appearance, but one’s health as well.

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    Progeria

    This is also one of the more tragic disorder in the list and it is also known as ‘Benjamin Button’ disease. The people who suffer from get aged rapidly.

    As per the researchers there are 1 in 8 million people, and though it is strictly genetic, it is not hereditary because those with progeria often die long before they have children of their own.

    In fact most born with progeria don’t live to celebrate their 14th birthday. In this disease the person with wrinkled skin and a hunched body, where progeria truly wreaks havoc on those it afflicts is on the internal organs, where kidney failure and cardiovascular problems are the norm.

    The most common cause of death are a hardening of the arteries, a condition normally reserved for smokers, the obese and the truly elderly, a stroke and a heart attack.

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    Proteus Syndrome

    This is a disease in which bones, skin and other tissues are overgrown. In this disease organs and tissues grow out of proporation with the rest of the body.

    Because of the overgrowth of the organs the result came in strange and imbalanced features. Signs of the disorder don’t usually appear until about 6 to 18 months after birth.

    The severity of proteus syndrome varies from individual to individual, and it occurs in less than one in one million people.

    The disorder results from a mutation in the AKT1 gene (which regulates cell growth), causing mosaicism; as cells grow and divide, some cells exhibit the mutation while others do not.

    The resulting mixture of normal and abnormal cells is what causes the overgrowth.

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