Ancestry and pathology in Tutankhamun's family

King Tut may be seen as the golden boy of ancient Egypt today, but during his reign, Tutankhamun wasn't exactly a strapping sun god.

Instead, a new DNA study says, King Tut was a frail pharaoh, beset by malaria and a bone disorder—and possibly compromised by his newly discovered incestuous origins. (King Tut Pictures: DNA Study Reveals Health Secrets.)

The report is the first DNA study ever conducted with ancient Egyptian royal mummies. It apparently solves several mysteries surrounding King Tut, including how he died and who his parents were.

"He was not a very strong pharaoh. He was not riding the chariots," said study team member Carsten Pusch, a geneticist at Germany's University of Tübingen. "Picture instead a frail, weak boy who had a bit of a club foot and who needed a cane to walk."

Regarding the revelation that King Tut's mother and father were brother and sister, Pusch said, "Inbreeding is not an advantage for biological or genetic fitness. Normally the health and immune system are reduced and malformations increase," he said.

The study revealed that King Tut's parents were siblings, a trend which might have continued in Tut's marriage. "There are rumors that Tut's wife was his sister or half sister. If this is true we have at least two successive generations that had interfamilial marriages, and this is not a good thing," Pusch says. "We see it quite often in royal families that they marry each other. They thought: 'Better to stay close.' I think we cannot judge from the insight we have nowadays." Because only partial DNA was retrieved from the mummified fetuses, it is still unclear whether they were Tut's offspring or just ceremonial offerings.

In 2005 Hawass performed a computed tomography (CT) scan to determine the cause of the boy pharaoh's death. The scan revealed a fractured femur, which could have caused death from infection or from a blood clot. The present study revealed that juvenile aseptic bone necrosis—a disorder in which poor blood supply leads to bone damage—might have rendered Tut particularly vulnerable to physical injuries. "We know that this man had 130 walking sticks and that he used to shoot arrows while he was sitting," Hawass says.

But the genetic analysis identified DNA from the malaria tropica (Plasmodium falciparum) pathogen, suggesting that Tut was also hampered by infection.

Over a two-year period, until October last year, they analysed samples from 16 mummies from the royal tombs of Luxor, and used computerised tomography (CT) scans to determine whether they were related, or had genetic disorders or infectious diseases. Using genetic fingerprinting and blood group tests, the study confirms that Tutankhamun was the son of Akhenaten, the “heretical” pharaoh who tried to reform Egyptian religion and culture during his rule from 1351 to 1334BC. It also identifies some of his grandparents and great-grandparents for the first time and suggests that his mother was Akhenaten’s sister.

On the basis of other, less complete DNA evidence, Tutankhamun himself was the father of two children, both stillborn girls, whose remains were found in his tomb.

Brother-sister marriages were common in the 18th dynasty of Egypt (circa 1550 to 1295BC) but scans and genetic fingerprinting show that he suffered from several disorders as a result of his family history.

By matching Tut's DNA to samples from other mummies, the team was able to identify one -- previously known only as KV55 -- as the pharaoh Akhenaten and the probable father of Tut; another as Tiye, Akhenaten's mother and Tut's grandmother; and a third as a sister of Akhenaten who was probably Tut's mother. . . .

"It is very important to have more empirical data about this body," said archaeologist Emily Teeter of the University of Chicago's Oriental Institute, who was not involved in the research. "The period is well documented [with artifacts] but not well understood."

She said the demonstration that Akhenaten was probably Tut's father also had "ramifications for Egyptian chronology." Researchers had not known whether Tut's father was Amenhotep III or Amenhotep IV, who took the name Akhenaten.

The researchers found that several of the anonymous mummies or those with suspected identities were now able to be addressed by name, which included KV35EL, who is Tiye, mother of the pharaoh Akhenaten and grandmother of Tutankhamun, and the KV55 mummy, who is most probably Akhenaten, father of Tutankhamun. This kinship is supported in that several unique anthropological features are shared by the 2 mummies and that the blood group of both individuals is identical. The researchers identified the KV35YL mummy as likely Tutankhamun's mother.

No signs of gynecomastia or Marfan syndrome were found. "Therefore, the particular artistic presentation of persons in the Amarna period is confirmed as a royally decreed style most probably related to the religious reforms of Akhenaten. It is unlikely that either Tutankhamun or Akhenaten actually displayed a significantly bizarre or feminine physique. It is important to note that ancient Egyptian kings typically had themselves and their families represented in an idealized fashion," they write.

King Tut Unwrapped, a two-part television program on the Discovery Channel on Sunday, February 21 and Monday, February 22, 2010 at 8:00 P.M. (ET/PT), presents the Egyptian Mummy Project's latest findings.

The traveling special exhibition Tutankhamun and the Golden Age of the Pharaohs at Discovery Times Square Exposition in New York (April 23, 2010-January 2, 2011) will feature a new gallery that describes how recent DNA testing provided information about the ruler's cause of death and family history.

The Minister of Culture, Farouk Hosni, will hold a press conference on Wednesday, February 17, 2010 at 11:00 am in the Cairo Museum to announce new discoveries surrounding the family of Tutankhamun and the cause of the young king’s death. Reporters from around the world have been invited to attend this important event.

The study on the family of Tutankhamun was conducted through the Egyptian Mummy Project (EMP) headed by Dr. Zahi Hawass, Secretary General of the Supreme Council of Antiquities, and a team composed of Egyptian scientists from the National Research Center, members from the Faculty of Medicine at Cairo University, and two German DNA specialists.

In the past, the EMP has conducted two further studies on ancient Egyptian mummies. The first project, which was carried out in 2005, performed a CT-Scan of the mummy of Tutankhamun. The study concluded that the king had died at the age of 19, but that contrary to earlier speculation, had not been murdered by a blow to the back of the head – Egyptian scientists revealed that the hole was created during Dynasty 18 in order to insert mummification liquid. Scientists also noted that the young king suffered a fracture to his left leg a day or so before his death. The EMP’s second project succeeded in identifying the mummy of Queen Hatshepsut from among remains found in KV 60 in the Valley of the Kings. These findings have been published in scientific articles.

Dr. Zahi Hawass and the scientists involved in the EMP’s latest study submitted an article to the Journal of the American Medical Association (JAMA), who approved of the study’s scientific method. The article will be published on February 17; the same day as the press conference.

The study was conducted inside two DNA laboratories which are under the supervision of the Supreme Council of Antiquities; one is located in the basement of the Cairo Museum, and another is in the Faculty of Medicine at Cairo University. These are the only two DNA laboratories exclusively aimed at the study of ancient mummies.