HUMAN MUTATION (HUMAN GENETIC DISORDER)

HUMAN MUTATION (HUMAN GENETIC DISORDER)

Mutations can occur in all living things but this is very rare. Mutation is usually a system defect or abnormal formation of the body. Below are some of the genetic mutations in humans found in history.

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1 | ECTRODACTYLY
Ectrodactyly comes from Greek, ecto (abortion) and daktylos (fingers). Due to hand disability phenomenon, the lack of split hand/split foot malformation (SHFM) is sometimes called the hand of the claw. Some are just thumbs and one of the other fingers (little finger, ring finger or both) this abnormalities are also found on the foot. This is a rare congenital aberration that causes impaired hand growth. This abnormalities inhibit growth in the middle so as to form a gap similar to the letter V.

2 | LESCH-NYHAN SYNDROME
Lesch-Nyhan Syndrome (LNS) is a condition in which a person has excessive accumulation of uric acid, uric a7cid is a metabolic waste product of the body found in blood and urine. But individuals with Lesch-Nyhan release excess uric acid through their blood that forms beneath the skin causing gout arthritis. Can also cause kidney stones and bladder. The disease also causes neurological disorders such as involuntary movement such as jerks, waving hands, muscle tension or seizures. In addition, it can lead to self-harmful behaviors such as head-banging and biting of fingers.

3 | EPIDERMODYSPLASIA VERRUCIFORMIS
Humans Roots suffered a very rare disease where in the whole body overgrown with warts which causes his body like a root in his hands and feet. Epidermodysplasia verruciformis is a very rare disorder that makes people susceptible to human papillomavirus infection (HPV). This infection causes the macula and papules to grow in the hands, feet, and even the face. This skin parasite appears as a wart-like bulge even like wood and horns with reddish-brown pigmented plaques. Areas of the body covered with warts is usually in areas exposed to sunlight such as in the palms of the hands and feet even in the face.

4 | HYPERTRICHOSIS
Hypertrichosis or wolf disease makes people have feathers in the whole body like a wolf. This disease is very rare only encountered one in one billion births in the world. Characteristic features of hair that grows uncontrollable in the area of ​​the face, shoulders and ears. This phenomenon occurs due to disruption of the connection between the epidermis and dermis when hair follicles are formed in the fetus when age 3 months. Usually, signals from the dermis send messages to form the follicles where the hair will grow. In forming the follicle, it sends a signal to prevent the surrounding area from becoming a follicle thus producing the same distance from our five million follicles.

5 | PROGERIA
Progeria is a rare genetic disorder that can make people get old or aging faster than normal people. People born with this disease will die at the age of 13-20 years. Causes such as common diseases suffered by parents such as stroke, hypertension and heart attacks. Progeria infects at least 1 of 8 million births in the world. This disease is caused by a mutation of the LMNA gene, a protein that provides support to the cell nucleus. Symptoms of people suffering from progeria include stiff skin, baldness, bone disorders and decreased growth. Progeria attracts the attention of gerontologists who hope to link genetic factors to the aging process.

6 | PROTEUS SYNDROME
The picture below (second row, 3rd) is a 22-year-old Mumtaz Sain of one of the proteus syndrome from Lahore Pakistan. This disease makes his head a large body of irregular people call him elephant man. Proteus Syndrome is indeed a rare genetic mutation that makes bones, skin, flesh grow excessively. The more severe this growth occurs irregularly resulting in odd shape and imbalance of body proportions. Usually Proteus symptoms appear after 18 months after birth and can be found every 1 of 1 million people. This disorder is caused by a mutation of the AKT1 gene, a gene that regulates cell growth. As cells grow and develop, some cells show mutations while others do not. This combination of normal and abnormal cells causes excess growth.

7 | TRIMETHYLAMINURIA
Trimethylaminuria is also called Fish Odor Syndrome. This one disorder is also very rare, where a person emits an unpleasant odor like a foul odor, rotten eggs, garbage, dirt, pellet, etc. This odor usually arises from the waste substances of body metabolism that is produced for example, urine, sweat, breath, etc. Most sufferers are women, the smell gets worse during menstruation or in the phases associated with estrogen and progesterone hormones. As a result, the sufferers of Trimetylaminuria often experience social pressure and depression because of embarrassment if the smell is to be sure the people will stay away from it.

8 | MARFAN SYNDROME
Marfan syndrome is a genetic disorder that causes connective tissue disorders (tissues that regulate body structure). Characteristics of marfan sufferers include tall and thin body, curved spine, small lower jaw, sunken eyes, flexible joints. In addition, this disorder can cause eye disorders such as cataracts, nearsightedness, glaucoma, and retinal detachment. This disease is very common and can be found one every 10000 to 20000 births. It is said that Abraham Lincoln also suffered from this disease.

9 | UNER TAN SYNDROME
Normal people generally walk enough with 2 feet (bipedal). But not with patients with Uner Tan Syndrome. Instead of using 2 feet they use both hands to walk like a legged animal. The name Uner Tan Syndrome (UTS) was first coined by an evolutionary biologist from Turkey named Uner Tan. He studied the peculiarities of the behavior of five members of the Ulaş family in the Turkish countryside running quadrupedal systems, using primitive language, as well as having congenital brain damage or impaired consciousness. The family story was documented by the BBC in 2006 entitled "The Family That Walks On All Fours". According to Tan, this is a genetic mutation that shows the transition of human evolution from quadrupedal to bipedal.

10| SEVERE COMBINED IMMUNODEFICIENCY DISORDER
SCID It is a genetic disorder that causes the sufferer to be easily attacked by a disease because the immune system is very weak. Babies born with this disease will always be wrapped in plastic. Therefore this disorder is often called Boy in the Bubble Disease or child's disease in bubbles.
In 1976 the movie The Boy in the Plastic Bubble raised the true story of a David Vetter who suffered from this disease. David was forced to insulate plastic bubbles to prevent the entry of viruses and bacteria from the outside air. In fact, the disorder is caused by a number of genes, including those causing defects in both T and B cell responses that cause a disruption of lymphocyte production or a kind of white blood cell.

11| CYCLOPIA
Cyclopia (cyclocephaly or synophthalmia) is a congenital abnormality (birth defect) characterized by a failure of prosencephalon in the embryo to divide part of the eye socket into two. Cyclopia causes formation failure especially in the head, sometimes the nose appears like a trunk over the eyes or behind, the infant is likely to die immediately after giving birth. The main cause of this disorder is a toxin that has high teratogenic alkaloids ie cyclopamine and 2-deoxyjervine that can be found in Veratrum californicum plants. This poison interferes with the embryo to divide the left and right brain so that only formed 1 part optic lobe and olfactory lobes that cause the formation of one eye and one ear.

12| MOMO SYNDROME
MOMO syndrome is a rare genetic disorder that causes excess growth. The name MOMO itself comes from 4 aspects Makrosomia (Overweight), Obesity, Macrocephaly (Excessive head size), Okuler (visual abnormalities). MOMO is also derived from the name of a famously fat king Momus-Rei Momo. This disorder occurs every 1 of 100 million births in the world. One of the famous MOMO cases is the case of Archie Thompson who was born in 2002 in Icklesham, England weighing 3.7 kg. Lapse of 15 months later the weight increased sharply to 25 kg. When the age of 2 years weighs 38 kg, this condition puts heavy pressure on the lungs and heart.

13| FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Fibrodysplasia Ossificans Progressiva (FOP) is a very strange mutation phenomenon in the body's regeneration system. FOPs make the injured muscles, tendons, and ligaments become stiff and harden to bone. This suffering person will not be able to move his body parts because of the bones that lock each other. They can not move the legs, hands, mouth, and breathing problems. The most famous FOP case is the case of Harry Eastlack (1933-1973). This disease is felt when the age of 10 years gradually the whole body harden into a statue. Eventually he died at the age of 40 due to the Lung Inflammatory disease. But he advised to donate his body for scientific research. Evidently now the framework of Harry Eastlack is stored at the Mütter Museum in Philadelphia as a center for the study of FOP disease. In Indonesia this disease reminds us of Sulami, a man from Sragen who was diagnosed with Ankylosing Spondylitis, a disease of rheumatoid arthritis that also makes the sufferer stiff.

Sources:
nature(dot)com
listverse(dot)com
quara(dot)com