Positive diagnosis of ancient leprosy and tuberculosis using ancient DNA and lipid biomarkers

Helen D. Donoghue*, G. Michael Taylor, Graham R. Stewart, Oona Y.C. Lee, Houdini H.T. Wu, Gurdyal S. Besra, David E. Minnikin

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

13 Citations (Scopus)


Diagnosis of leprosy and tuberculosis in archaeological material is most informative when based upon entire genomes. Ancient DNA (aDNA) is often degraded but amplification of specific fragments also provides reliable diagnoses. Cell wall lipid biomarkers can distinguish ancient leprosy from tuberculosis and DNA extraction residues can be utilized. The diagnostic power of combined aDNA and lipid biomarkers is illustrated by key cases of ancient leprosy and/or tuberculosis. Human tuberculosis was demonstrated in a woman and child from Atlit-Yam (~9 ka) in the Eastern Mediterranean and in the 600 BCE Egyptian "Granville" mummy. Both aDNA and lipids confirmed Pleistocene tuberculosis in a ~17 ka bison from Natural Trap Cave, Wyoming. Leprosy is exemplified by cases from Winchester (10th-12th centuries CE) and Great Chesterford (5th-6th centuries CE). A mixed infection from Kiskundorozsma, Hungary (7th century CE) allowed lipid biomarkers to assess the relative load of leprosy and tuberculosis. Essential protocols for aDNA amplification and analysis of mycolic, mycolipenic, mycocerosic acid, and phthiocerol lipid biomarkers are summarized. Diagnoses of ancient mycobacterial disease can be extended beyond the reach of whole genomics by combinations of aDNA amplification and lipid biomarkers, with sole use of the latter having the potential to recognize even older cases.

Original languageEnglish
Article number46
Issue number4
Publication statusPublished - 1 Dec 2017
Externally publishedYes

Bibliographical note

Funding Information:
Acknowledgments: Leverhulme Trust Project Grant F/00 094/BL supported the development of lipid biomarker detection of ancient tuberculosis and leprosy (OY-CL, DEM, GSB). GSB acknowledges support in the form of a Personal Research Chair from James Bardrick and the UK Medical Research Council (grant MR/K012118/1) and Wellcome Trust (grant 081569/Z/06/Z). Funds were available to cover the costs of open access publication.

Publisher Copyright:
© 2017 by the authors.


  • Cell wall lipids
  • Evolution
  • Genotyping
  • Mycobacterium leprae
  • Mycobacterium tuberculosis
  • Palaeopathology
  • aDNA


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