Most of the random genetic changes caused by evolution are neutral, and some are harmful, the interesting thing is that some of these are harmful, beneficial and positive.
In this post, misterhidayat.blogspot.com will list some of the beneficial and beneficial mutations known to exist in humans.
Mutations That Are Beneficial to Humans
1. Immune to Cholesterol
Heart disease is one of the terrible scourges in many countries in the world, including Indonesia. This is because there are still many people who get the wrong source of energy from the right fat, as a result, instead of getting healthy fat and energy for the body, it becomes a source of fat that can clog arteries and be harmful.
But there is evidence that evolution has the potential to overcome this.
Everyone has the gene for a protein called Apolipoprotein AI, which is part of the system that transports cholesterol through the bloodstream. Apo-AI is one of HDL, which is known to be beneficial because it can remove cholesterol from artery walls.
There is a small community in Italy known to have another mutated version of this protein, named Apolipoprotein AI-Milano, or Apo-AIM. Apo-AIM is even more effective than Apo-AI at removing cholesterol, dissolving plaque in arteries, and functioning as an antioxidant, preventing some of the inflammatory damage that usually occurs in arteriosclerosis.
People with the Apo-AIM gene have a much lower risk of heart attack and stroke than the average person. Pharmaceutical companies are trying to market an artificial version of the protein Apo-AIM as a cardioprotective drug.
There is also a drug that results from a different mutation, in a gene called PCSK9. People with this mutation had an 88% lower risk of heart disease.
2. Increased Bone Density
One of the genes that regulates bone density in humans is called low-density lipoprotein receptor-related protein 5, or LRP5.
Mutations that impair LRP5 function are known to cause osteoporosis. But different mutations can amplify its function and it is known to be one of the most unusual mutations ever.
It turns out that this mutation was first discovered by chance, at that time the Midwest family was in a serious car accident and strangely enough they were able to walk without a single broken bone. After an X-Ray it was discovered that they, like the rest of the family, have bones that are significantly stronger and denser than the average person.
A doctor who studied the condition said: “None of these people, aged between 3 and 93 years, ever had a broken bone.”
In fact, they are able to survive not only due to injury, but at the age of their bones when compared to the age of normal people may already experience bone degeneration.
Some of them have bone growths but are harmless, and the condition doesn’t even have side effects.
Like Apo-AIM, several drug companies are researching this for how to use it as a basic therapy that can help people with osteoporosis and other bone diseases.
3. Immune to malaria
Another example of beneficial mutations present in humans is the hemoglobin or HbS mutation which makes red blood cells curved and sickle-shaped. With one copy, it can make it immune to malaria, but with two copies, it causes the disease sickle cell anemia.
As reported in 2001, Italian scientists Burkina Faso studied several people in African countries who had immune effects due to the presence of a different variant of hemoglobin, called HbC. People with only one copy of this gene are 29% less likely to get malaria, while people with two copies of the gene are 93% less likely to develop the disease.
4. Tetrachromatic Vision
Most mammals have poor color vision because they have only two types of cone cells, the retinal cells that distinguish the color of light. Humans, like other primates, have three types of cone cells.
The gene for one type of cone cell, which is most responsive to blue, is found on chromosome 7. The other two types, sensitive to red and green, are both on the X chromosome. Because males have only one X chromosome, a mutation that removes the red gene or the green gene will produce a red-green color, while the female has a spare copy.
As happened to a woman named Concetta Antico in San Diego who has “super vision” or tetrachromatic, which is a rare genetic condition that allows her to see almost 100 million colors when compared to ordinary people who can only see about 1 million colors.
5. Immune to HIV
Human Immunodeficiency virus or HIV, a virus that we know is very dangerous because it attacks the human immune system and has not found a cure. But researchers found that some people who have certain gene mutations are able to be immune to this virus.
The mutation that occurs is that the body is unable to produce the protein CRR5 where this protein becomes one of the “entrances” for the HIV virus to attack the immune system. This makes some researchers try to develop drugs by exploiting this mutational disorder.
