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Updated: Dec 6, 2025

DNA Fingerprinting of Mycobacterium leprae Strains Using Variable Number Tandem Repeat VNTR - Fragment Length Analysis FLA
Published on: July 15, 2011
Evolutionary history of Mycobacterium leprae in the Pacific Islands
Kelly E Blevins1,2, Adele E Crane3,4, Christopher Lum5
1School of Human Evolution and Social Change, Arizona State University, Tempe, AZ, USA.
Abstract:
As one of the oldest known human diseases, leprosy or Hansen's disease remains a public health concern around the world with over 200 000 new cases in 2018. Most human leprosy cases are caused by Mycobacterium leprae, but a small number of cases are now known to be caused by Mycobacterium lepromatosis, a sister taxon of M. leprae. The global pattern of genomic variation in M. leprae is not well defined. Particularly, in the Pacific Islands, the origins of leprosy are disputed. Historically, it has been argued that leprosy arrived on the islands during nineteenth century colonialism, but some oral traditions and palaeopathological evidence suggest an older introduction. To address this, as well as investigate patterns of pathogen exchange across the Pacific Islands, we extracted DNA from 39 formalin-fixed paraffin-embedded biopsy blocks dating to 1992-2016. Using whole-genome enrichment and next-generation sequencing, we produced nine M. leprae genomes dating to 1998-2015 and ranging from 4-63× depth of coverage. Phylogenetic analyses indicate that these strains belong to basal lineages within the M. leprae phylogeny, specifically falling in branches 0 and 5. The phylogeographical patterning and evolutionary dating analysis of these strains support a pre-modern introduction of M. leprae into the Pacific Islands. This article is part of the theme issue 'Insights into health and disease from ancient biomolecules'.
Insights
Leprosy, caused by Mycobacterium leprae, has ancient origins in the Pacific Islands. Genomic analysis supports a pre-colonial introduction, challenging historical accounts of its arrival.
Area of Science:
- Genomics
- Epidemiology
- Anthropology
Background:
- Leprosy (Hansen's disease) is an ancient infectious disease caused primarily by Mycobacterium leprae.
- The historical introduction of M. leprae to the Pacific Islands is debated, with theories suggesting colonial-era or older origins.
- Understanding the genomic variation and phylogeography of M. leprae is crucial for public health and historical insights.
Purpose of the Study:
- To investigate the origins and introduction patterns of Mycobacterium leprae in the Pacific Islands.
- To analyze the genomic variation and phylogeography of M. leprae strains from the Pacific region.
- To provide evidence for the historical timeline of leprosy transmission in the Pacific.
Main Methods:
- DNA extraction from 39 formalin-fixed paraffin-embedded biopsy blocks (1992-2016).
- Whole-genome enrichment and next-generation sequencing to generate nine M. leprae genomes (1998-2015).
- Phylogenetic and phylogeographical analyses, including evolutionary dating.
Main Results:
- Nine M. leprae genomes were successfully sequenced, with coverage ranging from 4-63×.
- Phylogenetic analysis placed these Pacific strains within basal lineages (branches 0 and 5) of the M. leprae phylogeny.
- Phylogeographical patterns and evolutionary dating support a pre-modern introduction of M. leprae to the Pacific Islands.
Conclusions:
- The genomic data suggest that leprosy was established in the Pacific Islands before the 19th century colonial period.
- This study refutes the sole reliance on colonial history for understanding leprosy introduction in the region.
- The findings contribute to the understanding of pathogen exchange and the deep history of infectious diseases in the Pacific.
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