Abstract
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.
Highlights
Leprosy and tuberculosis are significant global human infections today and were readily recognized in the past
This review aims to introduce the techniques currently available for the identification of ancient tuberculosis and leprosy, summarize present knowledge and discuss the validity of particular published studies
Another deletion polymerase chain reaction (PCR) method applied in this study was for RD17, which showed that this event had not occurred, indicating the causative strains could have been due to M. bovis a-c lineages, but not M. bovis lineage d [85]
Summary
Leprosy and tuberculosis are significant global human infections today and were readily recognized in the past. Leprosy is a chronic human infection that has declined in recent years but caused approximately 213,900 new cases in 2014 [1]. If the bacilli enter the blood stream or lymphatic system they can spread to all parts of the body In rare cases this results in skeletal tuberculosis that can be recognized by characteristic palaeopathology. A further development has been the use of organic chemical techniques to detect and identify specific mycobacterial cell wall lipids in ancient cases of tuberculosis [9,10] and leprosy [11,12,13]. SNP sub-genotyping elucidates geographical differences between M. leprae from different regions [14,38,39,40]
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