Mutation Discovered in Cannibal Tribe Might Stop Deadly Brain Disease

— -- The DNA of tribes in a remote area of Papua New Guinea may someday help scientists find a way to protect people from certain degenerative brain diseases, including the illness commonly called "mad cow" disease.

While studying the Fore population in Papua New Guinea, which has practiced cannibalism in the past, researchers discovered many people had a genetic mutation that appeared to protect them from an incurable neurological condition called kuru.

Kuru is caused when people eat human brain or nervous system tissue that is tainted with an infectious protein and results in symptoms nearly identical to Creutzfeldt-Jakob disease, which humans can contract by eating cows with bovine spongiform encephalopathy, commonly called mad cow disease.

Both disease are a form of prion diseases, where an infectious protein causes other proteins to fold in the “wrong” way, eventually leading to cell death. Prion diseases usually progress rapidly and are always fatal, according to the U.S. Centers for Disease Control and Prevention.

In an article published this week in the prestigious journal Nature, researchers revealed they have discovered a genetic mutation that might protect people from contracting two famous prion diseases: kuru and Creutzfeldt-Jakob disease.

The genetic variant appears in a large number of the Fore population and the researches think that many without the variant may have died in earlier kuru outbreaks. When kuru was first identified in the 1950s, up to 2 percent of the Fore population were dying every year from kuru, according to the journal Nature's website.

Researchers replicated the genetic variant they found in the Fore population in mice and then infected the mice with either kuru or Creutzfeldt-Jakob. The mice with the same gene variant as one found in the Fore population appeared to be mostly protected from the disease and its fatal symptoms, researchers found.

Dr. Jiri Safar, co-director of the National Prion Disease Pathology Surveillance Center and associate professor of pathology and neurology at Case Western Reserve University in Cleveland, said the finding was a “breakthrough” but that more study would be needed to see if it could be a target for gene therapy.

He said since the genetic variant was tested in just two types of prion disease strains, it may not be effective for other prion-induced diseases that cause neurological decline.

“It’s very possible that this protective polymorphism may not be protective across all prion strains,” he explained. “A caveat for the future.”