'Oetzi' the Ancient Iceman Had Lyme Disease, Says Genome

Mummified body in Alps, 5,000+ years old, had Lyme disease, lactose intolerance.

ByABC News
February 29, 2012, 11:35 AM

Feb. 29, 2012 — -- They called him "the Tyrolean iceman" when hikers found him in the Italian Alps in 1991 -- the frozen corpse of a man from 5,300 years ago, remarkably well-preserved.

The man became one of the most-studied cadavers of modern times. Scientists nicknamed him Oetzi, after the Oetztal Alps, where he was found, and tried to unravel the mystery he presented.

Now, researchers from Europe and the U.S. have sequenced his genome -- his complete DNA -- and found he suffered many of the same ailments people do today. They reported he was genetically predisposed to heart disease, and can lay claim to having had the earliest documented case of Lyme disease.

"The Iceman probably had brown eyes, belonged to blood group O and was lactose intolerant," the researchers wrote in the journal Nature Communications.

"What's fascinating is that it's so incredibly well-preserved," said Carlos D. Bustamante, a population geneticist at Stanford Medical School in California, who helped in the analysis of the genome. "When you look at DNA, so much of it is usually contaminated with bacteria and the like."

Researchers were able to find uncontaminated DNA by taking a sample from Oetzi's hip.

Whoever he really was, he lived a hard life. He was probably about 45 years old, stood 5-foot-5 and had been sick several times in the months before he died. Scientists think he was killed by an arrow shot into his left shoulder.

They got a surprise when they compared his DNA to a database of modern Europeans. His genome most closely matches what they find in residents of Sardinia, an island hundreds of miles away in the Mediterranean off the Italian coast.

"Are Sardinians closer to people like him from back then?" asked Bustamante. "Or was he Sardinian, and on vacation in the Alps?"

It's likely there has been substantial migration in the millennia since the Iceman died, Bustamante said.

"It's also very possible he could have been a rambler who happened to die in the mountains," he added.