Iceman’s genome reveals health problems

He was predisposed towards heart problems, suffered from Lyme disease and was lactose intolerant – and he died over 5,000 years ago.

Scientists have successfully decoded the full genome of Ötzi, the mummified iceman found in the Italian Alps in 1991, and discovered remarkable details of his state of health.

Ötzi was already showing symptoms of cardiovascular disease at the time he died, in the form of arteriosclerosis, or hardening of the arteries – surprising, since he wasn’t overweight and certainly got  ofplenty exercise.

“The evidence that such a genetic predisposition already existed in Ötzi’s lifetime is of huge interest to us. It indicates that cardiovascular disease is by no means an illness chiefly associated with modern lifestyles,” say says anthropologist Albert Zink and bioinformatics expert Andreas Keller.

“We are now eager to use these data to help us explore further how these diseases developed.”

The team was also able to identify traces of bacteria from the genus Borrelia, responsible for causing infections and transmitted by ticks.

“This is the oldest evidence for borreliosis (Lyme disease) and proof that this infection was already present 5,000 years ago,” says Carsten Pusch, who led the genetic investigations in Tübingen.

Also of interest is the fact that Ötzi belonged to a particular Y-chromosome haplogroup which is relatively rare in present-day Europe, indicating that Ötzi’s ancestors had migrated from the Middle East as agriculture and cattle-breeding became more widespread.

Their genetic heritage is most common today in geographically isolated areas and islands such as Sardinia and Corsica.

And plenty more information emerged from the new genetic investigations. Ötzi had brown eyes, brown hair, and suffered from lactose intolerance, meaning he couldn’t digest milk products. This was likely to be true of most people of the time, with the ability to digest milk throughout adulthood developing steadily over the next few thousand years alongside the domestication of animals.