Iceman genetic analysis reveals new insights | Science| In-depth reporting on science and technology | DW | 05.03.2012
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Iceman genetic analysis reveals new insights

Ötzi the Iceman had a predisposition to cardiovascular diseases and suffered from other ailments when he died in the Italian Alps. Researchers have decoded the 5,300-year-old's full genome and published their results.

Ötzi the Iceman is a 5,300-year-old mummy found in a glacier

Ötzi the Iceman is a 5,300-year-old mummy found in a glacier

Ötzi had brown hair and brown eyes - and if he hadn't been killed by an arrow millenia ago, he might have died of a heart attack shortly thereafter. These assertions were among many released in a study published in the journal Nature Communications on Wednesday, providing new details on the the so-called "Iceman."

The 5,300-year-old Copper Age man's remains were found in the Ötztal Alps in Italy in 1991, but since then continual research has been performed on the corpse. Teams from the universities of Saarland and Tübingen in Germany, and the European Academy of Bolzano (EURAC) finished sequencing his full genome 18 months ago.

Coronary risk

Based on the new genetic analysis, the researchers concluded that Ötzi was predisposed to cardiovascular diseases, and in fact he already showed some symptoms of arteriosclerosis, or hardening of the arteries.

"His genotype shows an increased risk by up to 40 percent of developing clinically evident coronary heart disease - independent from the classical risk factors," wrote Andreas Keller of Saarland University, one of the paper's co-authors.

For the researchers, this was significant for the implications it could have in modern medicine, according to study co-author and Institute for Mummies and the Iceman paleogeneticist Angela Graefen.

"Today, the general idea is that heart disease is a modern disease with risk factors that include not enough exercise," she told DW. "But these didn't apply to the Iceman, radiological examinations have shown he had a lot of exercise and his muscle development showed he did a lot of mountain walking."

Gletscherleiche Ötzi Foto: South Tyrol Museum of Archaeology

Ötzi's complete genome was mapped 18 months ago

Researchers also found solid evidence that there was a genetic predisposition to cardiovascular disease.

"We are now eager to use these data to help us explore further how these diseases developed," the authors wrote in a statement.

Modern ailments in ancient times

As well as heart disease, the researchers also found evidence that Ötzi was afflicted with tick-transmitted Lyme disease through the presence of bacteria from the genus Borrelia.

"This is the oldest evidence for borreliosis (Lyme disease) and proof that this infection was already present 5,000 years ago," said Carsten Pusch, of the University of Tübingen, in a statement.

Ötzi also had difficulty digesting milk products, but this was a very common condition, EURAC's Angela Graefen added.

"Lactose intolerance was not a malady for the Iceman, it's been a normal part of human life," she told DW. "It was a chance mutation along the way that we've adapted to consuming dairy."

The ability to process dairy only really became common in the last 1,000 years, Graefen said.

Re-telling Ötzi's story

In addition to cataloguing Ötzi's various maladies, the results of the study also attempted to pin down his origins. Through his DNA, Ötzi's ancestors could be traced back to the Near East, with related specimens being found in today's island populations of Corsica and Sardinia.

The details of his death are many and yet it is unclear exactly how Ötzi met his end 10,500 feet (3,210 meters) up in the Italian Alps. Researchers believe Ötzi was an elder among his people, at 46 years old, when he died from an arrow wound that he took in the back. Some refer to Ötzi as the world's oldest murder mystery.

For the science community, Ötzi still has a lot to offer, as the Institute for Mummies and the Iceman have made their data available online.

"These results were just the tip of the iceberg," Graefen said. "Experts dealing with the recent evolution of the human genome and gene-based maladies can all have access to the genetic data online."

The researchers' next big project, she said, would be to look more closely at the contents of Ötzi's stomach, determining more about his diet and lifestyle.

Author: Stuart Tiffen
Editor: Cyrus Farivar

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