Heterozygous V127 Mutation

The fore people are a geographically isolated tribe in Papua New Guinea. Until the 1950’s they practiced a bizarre funeral ritual which involved consuming human brains. This cannibalistic behavior lead to members of the tribe getting a disease called Kuru. Kuru is a brain disease that is caused by infections Prions in the brain. The disease works by creating lesions in the brain and causing degradation, it is a fatal disease. When the tribe stopped this ritual in the 1950’s Kuru killed nearly two percent of the population annually. Researchers discovered that some members of a tribe appeared to have a genetic resistance to the disease. They determined that the mutation, named V127, protected members of the tribe from this disease. Of the surviving members of the tribe many had this mutation and of those that died or had Kuru, none of them had this mutation. Using this

Researchers discovered that the V127 mutation protected individuals from the infections prions by preventing them from folding. Because the prions folding is what caused the brain damage and eventual destruction, preventing this basically prevented prion related brain diseases. They discovered that having heterozygous or homozygous genes of the mutation lead to different levels of resistance to the infections prions. First the researchers discovered that of the mice that were tested, those that had a heterozygous V127 mutation, all of them were resistant to not only Kuru, but also Creutzfeldt-Jakob disease. The mice with the heterozygous V127 gene were resistant to most prion related brain diseases. The researchers also discovered that the mice that were homozygous with the mutation were immune to not only the previously mentioned prion diseases but also to the variant Creutzfeldt-Jakob Disease known as human mad cow disease. These findings show that a natural mutation lead to resistance to a disease that has no cure or vaccination at this