Progeria
Most often, children who are sick with progeria do not live up to the age of 13, of course, there are exceptions and the child celebrates his twentieth birthday, but such cases are rare. Most often, children with this type of mutation die from heart attacks or strokes. Moreover, for every 8 million children, one child is born with progeria. The disease is caused by a mutation of a person by its gene lamin A / C, in a protein that provides support to cell nuclei.
Progeria also includes accompanying symptoms: hard skin without hair, slow growth, abnormalities in bone development, and a characteristic nose shape. Gerontologists are still interested in this mutation, and today they are trying to understand the relationship between the presence of a defective gene and the processes leading to the aging of the body.
Juner Thane Syndrome
SUT or Juner Tan Syndrome The main symptom of this human mutation is 4-limb walking. This mutation was discovered by biologist Yuner Tan while studying the inhabitants of Turkey, the rural Ulas family, consisting of 5 people. A person with this anomaly cannot speak coherently, which is due to congenital cerebral failure. A biologist from Turkey investigated this type of human mutation and described it with the following words “The basis of genetic mutation is the return of human development to the reverse stage of human evolution.
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The mutation is caused by a genetic abnormality, that is, the abnormality in the gene contributed to the relapse of walking on the arms and legs at the same time (quadropedalism), from walking in an upright manner on two legs (bipedalism). In his research, Tang identified the intermittent equilibrium mutation. In addition, this deviation, according to the biologist, can be used as a living model of the evolutionary changes that a person has undergone as a species from its appearance to the present time. Some opponents of this theory do not accept this theory, in their opinion, the appearance of people with Juner Thane Syndrome develops regardless of the genome.
Hypertrichosis
Abrams Syndrome or hypertrichosis affects 1 in a billion people in the world. Scientists know only fifty recorded cases of the manifestation of this mutation since the Middle Ages. A person with the mutated gene has an increased amount of body hair. This mutation is caused by a disruption of an important connection between the epidermis and the dermis even in the intrauterine development of the hair follicle. During this mutation in a three-month-old fetus, signals from the dermis, as it were, notify the follicle of its future shape.
And the follicle, in turn, signals the skin that the follicle is self-formed. As a result, the hairs grow evenly, that is, they are located at the same distance. When one of the genes responsible for this delicate connection is mutated during the formation of the hairline, the hair follicle cannot tell the dermis about the number of already formed bulbs, so the bulbs seem to sit on top of one another, forming a dense “wool” on human skin.
Epidermodysplasia verruciform
A rather rare type of mutation that does not allow acquiring immunity resistant to the human papilloma virus is called epidermodysplasia verruciform. This mutation does not prevent papules or scaly patches on the skin of the legs, arms, and face. The "build-up" looks like warts from the side, but sometimes they resemble tree bark or horny substance. In fact, these formations are a tumor, most often appear in people with this gene abnormality for the field of 20 years, on areas of the skin that are exposed to open sunlight.
A method that can completely eliminate this ailment has not been invented, but using modern surgical methods, you can slightly reduce its manifestation and slightly slow down the growth of tumor growths. Information about Epidermodysplasia verruciformis became available in 2007, with the appearance on the Internet of a documentary film starring the Indonesian Dede Koswara. In 2008, at that time he was 35 years old, he underwent a complex operation, in which he removed 6 kg of growths from different parts of the body, such as arms, head, torso and legs.
Doctors transplanted new skin to the areas from which the growths were removed. Through this operation, Cosvaro got rid of a total of 95% of the warts. But after a while, the warts began to appear again, in connection with which the doctors recommended an operation every two years. Indeed, in the case of Cosvaro, this is vital, after removing the growths, he can eat on his own, hold a spoon and get dressed.
Severe combined immunodeficiency
The mutation of a human gene has led to a situation where people began to be born, completely lacking an immune system capable of coping with viruses. Severe combined immunodeficiency became known to the general public thanks to the movie "Boy in a Plastic Bubble". The film is based on the story of the difficult life of two boys with disabilities from birth, Ted DeVita and David Vetter. The hero of the film is a little boy who was forced to exist in a special cabin that isolates him from open space, because the effects of microbes contained in unfiltered air could be fatal for the boy.
The prototype of the movie hero Witter lived to be thirteen years old, death came as a result of a failed attempt to transplant him a bone marrow. This immune abnormality is a consequence of changes in several genes, especially the gene responsible for the defect in B T cell responses is affected. These changes negatively affect lymph production. Scientists believe that the mutation is due to a lack of adenosine deaminase. Several methods have become available to doctors to treat TCI, and gene therapy is suitable for this.
Lesch-Nyhan syndrome
This mutation affects one newborn boy out of 380,000. With this mutation, the production of uric acid increases, which appears due to the child's natural metabolic processes. Men with SLS have comorbid conditions such as gout and kidney stones. This is due to the fact that a large amount of uric acid enters the bloodstream.
This mutation is responsible for changes in behavior, as well as in the neurological functions of men. Often, patients have sharp spasms of the muscles of the extremities, which can manifest as convulsions or erratic swinging of the limbs. During such attacks, patients often injure themselves. As you know, doctors have learned to heal gout.
Ectrodactyly
This mutation is visible from the outside, a person has no phalanges of the fingers at all, in some cases they are underdeveloped. The patient's arms and legs resemble a claw to some people. It is practically impossible to meet this type of mutation. Sometimes children are born who have all the fingers, but they have grown together. Currently, doctors are separating them by performing a simple plastic surgery. But in a larger percentage of children with this deviation, fingers are not fully formed. Sometimes ectrodactyly is the cause of deafness. The source of the disease, scientists call a violation in the genome, namely in the deletion, translocation of the seventh chromosome and inversion.
Proteus syndrome
A striking representative of this mutation is the Elephant Man or Joseph Merrick when he was. This mutation is caused by type I neurofibromatosis. Bone tissue, together with skin, increases at an abnormally rapid rate, while disrupting natural proportions. The first symptoms of Proteus syndrome in a child appear no earlier than six months of age. It flows individually. Typically 1 in a million people suffer from Proteus syndrome. Scientists know only a few hundred facts of this disease.
This human mutation is a consequence of changes in the AKT1 gene, which is responsible for cell division. In this disease, a cell that has anomalies in its structure grows and divides at a tremendous uncontrolled rate, a cell without an anomaly grows at the prescribed rate. As a result, the patient has a mixture of normal and abnormal cells. It doesn't always look aesthetically pleasing.
Trimethylaminuria
A rare mutational abnormality, so scientists cannot clearly indicate the number of affected by it. But a person suffering from trimethylaminuria can be noticed at first glance. The patient accumulates the substance trimethylamine. The substance changes the structure of skin secretions, in this regard, sweat smells quite unpleasant, for example, some may smell like rotten fish, urine, rotten eggs.
The female sex is prone to this anomaly. The intensity of the smell appears in full intensity a few days before menstruation, and it is also influenced by the intake of hormonal drugs. Scientists believe that the level of excreted substance trimethylamine directly depends on the amount of estrogen and progesterone. People with this syndrome are prone to depression and live in isolation.
Marfan syndrome
The mutation occurs quite often, on average one child in 20 thousand is born with this mutation. It is a disorder associated with the abnormal development of connective tissue. The most common form today is myopia, as well as disproportionate length of an arm or leg. Sometimes there are cases of abnormal joint development. People with this mutation can be recognized by their exorbitantly long and thin arms.
Very rarely, a person with this anomaly has ribs spliced together, while the bones of the chest seem to sink or bulge outward. With the advanced course of the disease, the spine is deformed.