There are genetic mutations that protect people from certain diseases.Reference

"Despite these challenges, identification of secondary modulators has proven successful across a multitude of model organisms in which the prominent role of second-site suppressors that buffer or modify traits has been established8, 9, 10, 11. For example, human genetic studies have identified rare mutations in CCR5 that confer resilience against HIV infection12, mutations in globin genes that modify the severity of sickle cell disease by buffering primary mutations in β-globin genes13, and LoF mutations in PCSK9 that protect carriers from high lipid levels and resulting heart disease14. Second-site mutations in disease genes have also been shown to revert clinical phenotype in patients with recessive dystrophic epidermolysis15 and Fanconi anemia16, whereas LoF mutations in zinc transporter 8 have been found to protect obese individuals from diabetes17. Most recently, a variant identified in the gene Jagged1 was found to confer resilience to Duchenne muscular dystrophy in two dogs, implicating Jagged1 as a therapeutic target for the disorder18."

Created by: netizer, last updated by: netizer

Confirm with another fact Mention contradicting fact


There are no comments posted for this fact.

Comments from other facts referring to this fact

There are no comments posted for related facts.