Since the discovery of the tomb of King Tutankhamun in 1922, researchers have been captivated by the 3300-year-old mystery of what killed the young pharaoh. Tutankhamun ruled the Egyptian empire for nine years in the 18th dynasty of the New Kingdom before dying at the age of 19 in 1324 B.C. As a part of the King Tutankhamun Family Project, researchers have released what they believe is the most likely explanation for Tutankhamun’s death:a deadly combination of malaria and bone deformities that led to a fatal broken leg. Researchers had previously established that Tutankhamun had a broken leg near the time of his death by taking X-ray scans of the mummy.
"I never thought that we would really reach a great important discovery," Zahi Hawass, co-author on the study and a lead archaeologist at the Supreme Council of Antiquities (Cairo, Egypt), told the Associated Press.
The King Tutankhamun Family Project, led by the Supreme Council of Antiquities, is an international effort to sequence the DNA of 16 mummies believed to be of ancient royal descent. The research sought to identify several unknown mummies dating to the 18th dynasty, determine familial relationships between these mummies and previously identified remains, and resolve the debate over Tutankhamun's death. The investigators searched for pathological features attributable to any of the various theories about Tutankhamun’s death, including murder, septicemia (blood infection), other infections, inherited disorders, or poisonings.
From 2007 to 2009, researchers subjected 11 royal mummies dating from 1410–1324 B.C. and five royal mummies dating from 1550–1479 B.C. to anthropological, radiological, and genetic analysis. Mummies that were known to be distinct from Tutankhamun’s immediate lineage were used as a genetic and morphological reference. The researchers determined microsatellite-based haplotypes for the mummies, segregated alleles by generation within possible pedigree variants, and correlated diseases to the determined ages of individuals based on archeological evidence and written historical record. The researchers then used genetic fingerprinting to identify the relationships between mummies and search for inherited disorders.
A variety of hypotheses have been proposed regarding inherited disorders that might have been present in Tutankhamun’s line, including gynecomastia, craniosynostoses, and Marfan's syndrome. Due to the common practice of inbreeding, researchers expected to find a significant amount of mutations among Tutankhamun’s lineage. "However, [prior to this study,] most of the disease diagnoses are hypotheses derived by observing and interpreting artifacts and not by evaluating the mummified remains of royal individuals apart from these artifacts," wrote the researchers in their recent paper. The analyzed mummies in this study included Tutankhamun’s mother, father (identified as the pharaoh Akhenaten), paternal grandmother, and paternal grandfather.
While the study’s results eliminated many of the hypothesized disorders, genetic analysis did confirm the presence of several malformations throughout Tutankhamun’s lineage, including scoliosis, cleft palate, and clubfeet. The researchers confirmed that the bone disease Köhler II, which weakens bone, was present in Tutankhamun and several family members.
But this alone could not have caused the Pharaoh’s death, so researchers continued their analysis, by testing for the genes stevor, ama1, and msp1, which are specific to the malaria parasite Plasmodium falciparum. These genes were present in Tutankhamun and three other mummies, indicating a malaria infection. This finding marks the earlierst recorded case of the disease.
Based on the presence of genes associated with Köhler II and malaria, the researchers concluded that Tutankhamun died of a fatal combination of malaria infection and avascular bone necrosis, a condition where poor supply of blood to the bone leads to weakening or destruction of sections of bone. The researchers suggested that these two diseases were probably responsible for a broken leg that Tutankhamun sustained somewhere around the time of his death, which could have been fatal in conjunction with malaria infection.
The original archeological findings further support this cause of death. “Walking impairment and malarial disease sustained by Tutankhamun is supported by the discovery of canes and an afterlife pharmacy in his tomb," wrote the researchers.
The researchers hope that this work will help establish the field of molecular Egyptology, which would merge natural, life, and cultural sciences with the humanities, medicine, and other research fields. Hawass hinted that the researchers may have more to reveal about Tutankhamun and his family, though he did not elaborate about what the next revelation will include. "We finished the first great part of the mystery, and the second one is coming soon, in one year."
The paper, “Ancestry and pathology in King Tutankhamun's family,” and a related editorial by Howard Merkel of the Center for the History of Medicine at the University of Michigan, “King Tutankhamun, modern medical science, and the expanding boundaries of historical inquiry,” were published Feb. 17 in the Journal of the American Medical Association.