Ellizabeth Taylor, the same gene mutation, please give me a dozen.

The mutation of

gene can happen to every one of us every moment. The vast majority of mutations have no effect, and some can cause diseases, including cancer and many rare diseases. Other mutations may bring unexpected benefits, which may be understood as “superpower”.

1. declined AIDS

< p > a small number of people have CCR5 gene mutation, and it is through this gene expression of HIV protein into the cell and pathogenesis. Therefore, this part of people’s resistance to HIV is very good. The most famous example is Berlin patient, who also suffers from AIDS and leukemia. AIDS is miraculously cured in the course of bone marrow transplantation for leukemia. Subsequent studies have found that bone marrow donors are people with mutations in the CCR5 gene. So HIV is very difficult to enter the cells of patients, it can not continue to rage.

Sangamo Therapeutics, which works with our lab, also manufactures mutations in the CCR5 gene artificially through gene editing techniques to help patients resist HIV. This technology has entered the phase 1/2 clinical trial.

2. declined malaria

< p > Malaria is rampant in some African countries, but some patients with sickle cell anemia are found to be highly resistant to malaria. Malaria spread through mosquito bites can cause death. The malaria pathogen enters the human body and completes its reproduction process by invading red blood cells. And sickle cell anemia is caused by HBB gene mutation, the structure of red blood cells is very special, will make it difficult to enter the erythrocyte malaria protozoa, so patients with malaria resistance is very strong. Even healthy HBB mutation carriers are very resistant to malaria.

3. eats

Most people need to consider the cholesterol level carefully when they eat fried food and bacon in order to avoid increasing the risk of heart disease. A small number of people will not increase their cholesterol levels anyway. This group of people has mutations in the PCSK9 gene, and their heart rate is only 10% of that of the average person. Now there are even drug companies using PCSK9 base to develop new drugs to reduce cholesterol levels.

4. high altitude endurance

Tibetans have great tolerance to the special environment at high altitude. People living in other areas produce more red blood cells to transport oxygen under hypoxic conditions, but Tibetans produce less red blood cells. This is because although producing more red blood cells will help the body get more oxygen in a short time, it will also make the blood more sticky, eventually leading to thrombosis and death. Tibetans still retain this trait even when they live in other areas, so they are more likely to be related to genetic factors. It is speculated that the variation of EPAS1 gene may be related to this. The protein encoded by EPAS1 detects oxygen content and controls erythrocyte production. This may explain why Tibet compatriots do not produce too much red blood cells under hypoxic conditions.

5. declined the

of Ku Lu disease

Ku Lu disease is a fatal neurodegenerative disease similar to that of mad cow disease. Memory and intelligence decline, personality changes, epilepsy, and eventually death. Similar to mad cow disease, the disease may also come from the custom of eating people. A primitive tribe in New Guinea honored the dead by eating their bodies, resulting in the spread of kuru disease. Very few people are immune to the disease due to mutations in the G127V gene.

6. gold blood

probably most people know that type O blood is universal transfusion. But in fact, the classification of blood cells is far more complicated than that. There are 35 different classification systems. Many people are not in the normal ABO system, so their blood transfusion needs can not even O blood. But there is a blood called “golden blood” (Rh-null), which is completely free of surface antigens. Gold blood is more versatile than type O blood, and can be applied to transfusion needs of any blood group receptor. Around 40 cases were found in the world, and only 9 were donors.

7. iron clank

osteoporosis is a common disease among the middle-aged and the elderly. A mutation in the SOST gene in Africa’s Afrika population leads to increased bone mineral density rather than gradual loss. If a pair of chromosomes carry mutations, it will lead to a disease called sclerosing stenosis. The patient developed severe skeletal growth, facial deformities, hearing loss and early death. Therefore, only carriers can enjoy the benefits of this gene mutation. But scientists have begun to develop new drugs for osteoporosis through this discovery. In addition, certain mutations in the LRP5 gene also increase bone density and keep the skin young for a long time.

8. declined sleep

there are a small number of people who need less than 6 hours of sleep a day to stay energetic. They may carry mutations in the DEC2 gene, making them less sleep than the average person. Ordinary people who sleep less than six hours over a long period of time have a lot of health problems (including high blood pressure, heart disease), but people with this mutation do not. Studies have found that mutations in the DEC2 gene may make people sleep better, requiring less sleep. But this mutation is extremely rare, and occurs only in less than 1% of people who claim to have little sleep. So if you think you have, in fact, most of you do not have this super power.

9. flourishing beauty

movie star Elizabeth Taylor is famous for her beauty, especially her blue eyes and double eyelashes. In fact, she is a rare disease (distichiasis), the disease is caused by mutations in the FOXC2 gene. Double ciliary disorder may cause eye irritation, frequent tears, and decreased vision. But in most cases, there will not be any side effects. On the contrary, it will increase the fineness of facial features.


in short, we must treat gene mutation correctly. The mutation of gene is the reason for enriching the gene pool, and is actually the driving force behind evolution. Without mutation, has no human evolution. The impact of mutations on people is not static, depending on changes in the environment around them, and may even bring disease and unexpected benefits.

“1Q84”

people, in the final analysis, are only carriers of genetic factors and their channels. They ridden us from generation to generation, just as they threw away the tired horses one after another.

each of us is only a carrier of genetic factors. It is only part of the game. Good mutations, bad mutations are essentially by-products of gene delivery.

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