Otzi the Iceman: 5,300-Year-Old Austrian Mummy Reveals Genetic Predisposition to Clogged Arteries

An analysis of Otzi the Iceman, the well-preserved natural mummy of a man who lived around 3,300 BCE, suggests he was genetically predisposed to atherosclerosis.

While prevalence and types of risk factors for the narrowing of the arteries due to fatty deposits have varied over time, such as levels of obesity and physical activity, the genetic risk for the condition today appears to be very similar to that in ancient times.

The study was led by author Professor Albert Zink of the European Academy of Bolzano/Bozen.

While modern imaging techniques have been used to identify atherosclerosis in the mummified remains of multiple cultures, evidence of genetic predisposition has been harder to obtain due to the degradation of genetic material over time.

However, in a previous whole-genome study of the Tyrolean Iceman an increased risk for coronary heart disease was detected.

The Iceman's genome revealed several single nucleotide polymorphisms that have been linked with modern day cardiovascular disease in the many genome-wide association studies that have been published across the past decade.

The remains of the Iceman have undergone extensive analysis, in which he showed a strong genetic predisposition for increased risk of coronary heart disease.

This is of particular interest as the computed tomography scans of the Iceman already had revealed major calcification in several major blood vessels, including the carotid arteries, distal aorta, and right iliac artery, which are strong signs of generalised atherosclerotic disease.

According to the authors, other traditional cardiac risk factors, such as being overweight, tobacco smoking, lack of physical activity, and a high fat diet, can generally be ruled out in a person from this era.

The genetic sequencing data demonstrates that the Iceman had a very specific genetic mutation, namely that he was homozygous for the minor allele (GG) of rs10757274, located in chromosomal region 9p21.

This is among the strongest genetic predictors of heart attacks.

Although it is believed that our ancestors lived much purer and active lives that would have prevented conditions such as clogged arteries, the researchers disagree.

"Wrong! Our ancestors going back thousands of years show signs of atherosclerosis," they wrote. "Even though our human ancestors lived far different lives than we do, their environments and lifestyles were not protecting them against the development of atherosclerosis."

"What is similar between now and then is the human genetic material, our genome, including ancient polymorphisms that were uncovered to predispose the carrier to the development of atherosclerotic cardiovascular disease," the authors added.

"Until now, the Iceman is the only ancient human remain in which a genetic predisposition for cardiovascular disease has been detected," said Prof Zink.

"The study of ancient humans and a better understanding of the interaction between environmental and genetic influences on the development of heart diseases may lead to a more effective prevention and treatment of the most common cause of death in the modern world."

The research was published in Global Heart, the journal of the World Heart Federation.