Benefit mutations

2001/11/15 Galarraga Aiestaran, Ana - Elhuyar Zientzia

• Genetika
• Medikuntza

Malaria is a disease caused by the pathogen Plasmodium falciparum. This pathogen infects erythrocytes – cells responsible for transporting oxygen into the blood through hemoglobin.

While inside erythrocytes, the parasite degrades 80% of its hemoglobin, causing the person to develop malaria disease. Pasmodium uses enzymes called plasmesins to degrade hemoglobin. For this reason, in recent years medicines have been developed against these enzymes that degrade hemoglobin.

But man himself has found a way to avoid this degradation. In individuals of the African Mossi ethnicity, the spontaneous mutation of hemoglobin fat causes enzymes to not degrade. In this way, even being pathogenic, the individual will not develop the disease.

There is another mutation that protects against malaria, but in this case, due to the malfunction of hemoglobin (the mutation alters the structure of hemoglobin), man dies of severe anemia. However, the HbC mutation only produces light anemia and does not jeopardize the health of the individual.

The presence of common malaria in Africa has allowed the spread of the mutation by simple selective pressure. Viruses and bacteria frequently use this mutation capability to prevent the action of vaccines and antibiotics, but it seems that the human body can use the same pathway to protect itself from pathogens.