Ancestralidade e patologia na família do faraó Tutancâmon

sexta-feira, abril 29, 2011

Published online 27 April 2011 | Nature 472, 404-406 (2011) | doi:10.1038/472404a

News Feature

Ancient DNA: Curse of the Pharaoh's DNA

Some researchers claim to have analysed DNA from Egyptian mummies. Others say that's impossible. Could new sequencing methods bridge the divide?

Jo Marchant

Cameras roll as ancient-DNA experts Carsten Pusch and Albert Zink scrutinize a row of coloured peaks on their computer screen. There is a dramatic pause. "My god!" whispers Pusch, the words muffled by his surgical mask. Then the two hug and shake hands, accompanied by the laughter and applause of their Egyptian colleagues. They have every right to be pleased with themselves. After months of painstaking work, they have finally completed their analysis of 3,300-year-old DNA from the mummy of King Tutankhamun.

Featured in the Discovery Channel documentary King Tut Unwrapped last year and published in the Journal of the American Medical Association (JAMA)1, their analysis — of Tutankhamun and ten of his relatives — was the latest in a string of studies reporting the analysis of DNA from ancient Egyptian mummies. Apparently revealing the mummies' family relationships as well as their afflictions, such as tuberculosis and malaria, the work seems to be providing unprecedented insight into the lives and health of ancient Egyptians and is ushering in a new era of 'molecular Egyptology'. Except that half of the researchers in the field challenge every word of it.

Enter the world of ancient Egyptian DNA and you are asked to choose between two alternate realities: one in which DNA analysis is routine, and the other in which it is impossible. "The ancient-DNA field is split absolutely in half," says Tom Gilbert, who heads two research groups at the Center for GeoGenetics in Copenhagen, one of the world's foremost ancient-DNA labs.


Read more here/Leia mais aqui: Nature



Ancestry and Pathology in King Tutankhamun's Family

Zahi Hawass, PhD; Yehia Z. Gad, MD; Somaia Ismail, PhD; Rabab Khairat, MSc; 
Dina Fathalla, MSc; Naglaa Hasan, MSc; Amal Ahmed, BPharm; Hisham Elleithy, MA; Markus Ball, MSc; Fawzi Gaballah, PhD; Sally Wasef, MSc; Mohamed Fateen, MD; Hany Amer, PhD; Paul Gostner, MD; Ashraf Selim, MD; Albert Zink, PhD; Carsten M. Pusch, PhD

Author Affiliations

Author Affiliations: 

Supreme Council of Antiquities, Cairo, Egypt (Dr Hawass and Mr Elleithy); National Research Center, Cairo, Egypt (Drs Gad, Ismail, and Amer and Mss Hasan and Ahmed); Ancient DNA Laboratory, Egyptian Museum, Cairo, Egypt (Drs Gad and Ismail and Mss Fathalla, Khairat, Hasan, and Ahmed); Institute of Human Genetics, Division of Molecular Genetics, University of Tübingen, Tübingen, Germany (Ms Khairat, Mr Ball, and Dr Pusch); Learning Resource Center, Kasr Al Ainy Faculty of Medicine, Cairo University, Cairo, Egypt (Drs Gaballah and Fateen and Ms Wasef); Department of Radiodiagnostics, Central Hospital Bolzano, Bolzano, Italy (Dr Gostner); Department of Radiology, Kasr Al Ainy Faculty of Medicine, Cairo, Egypt (Dr Selim); and Institute for Mummies and the Iceman, EURAC, Bolzano, Italy (Dr Zink).


Context The New Kingdom in ancient Egypt, comprising the 18th, 19th, and 20th dynasties, spanned the mid-16th to the early 11th centuries BC. The late 18th dynasty, which included the reigns of pharaohs Akhenaten and Tutankhamun, was an extraordinary time. The identification of a number of royal mummies from this era, the exact relationships between some members of the royal family, and possible illnesses and causes of death have been matters of debate.


To introduce a new approach to molecular and medical Egyptology, to determine familial relationships among 11 royal mummies of the New Kingdom, and to search for pathological features attributable to possible murder, consanguinity, inherited disorders, and infectious diseases.


From September 2007 to October 2009, royal mummies underwent detailed anthropological, radiological, and genetic studies as part of the King Tutankhamun Family Project. Mummies distinct from Tutankhamun's immediate lineage served as the genetic and morphological reference. To authenticate DNA results, analytical steps were repeated and independently replicated in a second ancient DNA laboratory staffed by a separate group of personnel. Eleven royal mummies dating from circa 1410-1324 BC and suspected of being kindred of Tutankhamun and 5 royal mummies dating to an earlier period, circa 1550-1479BC, were examined.

Main Outcome Measures 

Microsatellite-based haplotypes in the mummies, generational segregation of alleles within possible pedigree variants, and correlation of identified diseases with individual age, archeological evidence, and the written historical record.


Genetic fingerprinting allowed the construction of a 5-generation pedigree of Tutankhamun's immediate lineage. The KV55 mummy and KV35YL were identified as the parents of Tutankhamun. No signs of gynecomastia and craniosynostoses (eg, Antley-Bixler syndrome) or Marfan syndrome were found, but an accumulation of malformations in Tutankhamun's family was evident. Several pathologies including Köhler disease II were diagnosed in Tutankhamun; none alone would have caused death. Genetic testing for STEVOR, AMA1, or MSP1genes specific for Plasmodium falciparum revealed indications of malaria tropica in 4 mummies, including Tutankhamun’s. These results suggest avascular bone necrosis in conjunction with the malarial infection as the most likely cause of death in Tutankhamun. Walking impairment and malarial disease sustained by Tutankhamun is supported by the discovery of canes and an afterlife pharmacy in his tomb.


Using a multidisciplinary scientific approach, we showed the feasibility of gathering data on Pharaonic kinship and diseases and speculated about individual causes of death.

KEYWORDS: cause of death, dna, Egypt, feminization, genetic diseases, inborn, gynecomastia, history, ancient, malaria, marfan syndrome, molecular biology, mummies, walking.