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Ancestry and pathology in King Tutankhamun's family.

Hawass Z, Gad YZ, Ismail S, Khairat R, Fathalla D, Hasan N, Ahmed A, Elleithy H, Ball M, Gaballah F, Wasef S, Fateen M, Amer H, Gostner P, Selim A, Zink A, Pusch CM

Supreme Council of Antiquities, Cairo, Egypt.

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. OBJECTIVES: 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. DESIGN: 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 1550-1479 bc, 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. RESULTS: 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 MSP1 genes 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. CONCLUSION: Using a multidisciplinary scientific approach, we showed the feasibility of gathering data on Pharaonic kinship and diseases and speculated about individual causes of death.

Published 17 February 2010 in JAMA, 303(7): 638-47.
Full-text of this article is available online (may require subscription).


Articles on Malaria published 5 February 2010:

Identification of malaria retinopathy improves the specificity of the clinical diagnosis of cerebral malaria: findings from a prospective cohort study.   Am J Trop Med Hyg, 82(2): 231-4.

The diagnosis of cerebral malaria (CM) is difficult to confirm in endemic regions with limited neurodiagnostics. Accurate diagnoses are critical for trials and outcomes studies. Findings from an autopsy-based study suggest that identifying malaria retinopathy in children satisfying the standard clinical case definition of CM improves our ability to accurately diagnose CM in vivo. In a post hoc analysis of a prospective exposure-control study to evaluate CM as a risk factor for epilepsy, we ... [Abstract] [Full-text]

A non-radioactive DAPI-based high-throughput in vitro assay to assess Plasmodium falciparum responsiveness to antimalarials--increased sensitivity of P. falciparum to chloroquine in Senegal.   Am J Trop Med Hyg, 82(2): 228-30.

The spread of Plasmodium falciparum drug resistance is outpacing new antimalarial development and compromising effective malaria treatment. Combination therapy is widely implemented to prolong the effectiveness of currently approved antimalarials. To maximize utility of available drugs, periodic monitoring of drug efficacy and gathering of accurate information regarding parasite-sensitivity changes are essential. We describe a high-throughput, non-radioactive, field-based assay to evaluate in ... [Abstract] [Full-text]

High complexity of Plasmodium vivax infections in symptomatic patients from a rural community in central Vietnam detected by microsatellite genotyping.   Am J Trop Med Hyg, 82(2): 223-7.

Fourteen published and three newly identified polymorphic microsatellites were used to genotype 69 Plasmodium vivax samples obtained from 39 patients detected over a period of two years who lived in a rural community of central Vietnam. All samples were polyclonal with an average expected heterozygosity of 0.86. Among the 39 patients, 16 experienced 1-5 recurrent episodes of P. vivax malaria, most of them (83%) with a different genotype profile compared with previous infections. The minimal set ... [Abstract] [Full-text]

Retinal hemorrhage in Plasmodium vivax malaria.   Am J Trop Med Hyg, 82(2): 219-22.

Retinal hemorrhage is a frequently observed sign in Plasmodium falciparum infection. In Plasmodium vivax infection, however, retinal hemorrhage is very rare; only five cases have been reported in the literature. In this case report, we review the literature and the case of 52-year-old man who had retinal hemorrhages in P. vivax infection. We analyzed the structural characteristics of the lesions using fluorescein angiography and spectral-domain optical coherence tomography. Physicians should be ... [Abstract] [Full-text]

Assessment of fever in African children: implication for malaria trials.   Am J Trop Med Hyg, 82(2): 215-8.

We evaluated methods for assessing body temperature by comparing subjective assessment of fever by parents and doctors with objective axillary, tympanic, and rectal measurements of body temperature in 1000 children < or = 10-years-old who presented at outpatient clinics with recent history of fever. Sensitivity of subjective assessment of fever were higher at thresholds of > or = 38.3 degrees C with specificity as low as 60%. Axillary methods showed better specificity at fever thresholds ... [Abstract] [Full-text]

Burden of malaria during pregnancy at the time of IPTp/SP implementation in Gabon.   Am J Trop Med Hyg, 82(2): 202-9.

The new recommendations to prevent malaria in pregnant women have recently been implemented in Gabon. There is little information on the pregnancy indicators that are useful for their evaluation. A cross-sectional study for the assessment of the prevalence of peripheral, placental, and cord malaria and anemia among delivering women was performed at the largest public hospital of Gabon. Malaria prevalence was 34.4%, 53.6%, and 18.2% for maternal peripheral, placental, and cord blood ... [Abstract] [Full-text]

Disentangling the effect of local and global spatial variation on a mosquito-borne infection in a neotropical heterogeneous environment.   Am J Trop Med Hyg, 82(2): 194-201.

Mosquito-borne pathogen transmission exhibits spatial-temporal variability caused by ecological interactions acting at different scales. We used local spatial statistics and geographically weighted regression (GWR) to determine the spatial pattern of malaria incidence and persistence in northeastern Venezuela. Seven to 11 hot spots of malaria transmission were detected by using local spatial statistics, although disease persistence was explained only for four of those hot spots. The GWR models ... [Abstract] [Full-text]

Is mosquito larval source management appropriate for reducing malaria in areas of extensive flooding in The Gambia? A cross-over intervention trial.   Am J Trop Med Hyg, 82(2): 176-84.

Larviciding to control malaria was assessed in rural areas with extensive seasonal flooding. Larval and adult mosquitoes and malaria incidence were surveyed routinely in four 100-km(2) areas either side of the Gambia River. Baseline data were collected in 2005. Microbial larvicide was applied to all water bodies by hand application with water-dispersible granular formulations and corn granules weekly from May to November in two areas in 2006 and in the other two areas in 2007 in a cross-over ... [Abstract] [Full-text]


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