ИСТИНА

Morphological and genetic approaches for confirmation of leprae on the skull from Rokhlin's paleopathological collection (St. Petersburg)Leprosy is a chronic infectious disease caused by Mycobacterium leprae. The timing of first infection, geographic origin, and pattern of transmission of the disease are still under investigation. Studying ancient DNA has the potential to provide a new insight into pathogen evolution.The skull of an adult man from anthropological collection of Museum of Anthropology of RAS (Kunstkamera), St. Petersburg (#7546-671) has specific morphological characteristics for the disease. It was preserved in the special paleopathological collection build up by famous Russian paleopathologist D. G. Rokhlin in the middle of the last century. The skull is without lower jaw and postcranial skeleton. No historical context of the finding.The skull was examined macroscopically. Rinomaxillary remodeling: alveolar recession and the narrowed rounded margins of the piriform aperture, is clearly visible on the skull. Destructive focuses are also extended to the hard palate. Cribra orbitalia also was fixed. Thus, we can state that the specimen may have suffered from the leprosy.Ancient DNA investigations using a tooth were conducted in clean room facilities at the University of Tuebingen (Germany). Well-established protocols were used for DNA extraction and library preparation. Initial screening for the presence of three M. leprae genes (gyrA, proS, RLEP) and human mitochondrial DNA was carried out via target enrichment and subsequent sequencing on an Illumina HiSeq platform. The preliminary data indicates a good overall DNA and points to the presence of M. leprae. Further investigations may reveal further insights on the genetic composition of this leprosy case.The demonstration of the presence of pathogen in the specimen by DNA analyses supported the conclusion, which was done by paleopathological data.