A complete mitochondrial genome of a Roman-era Plasmodium falciparum

Abstract

Malaria has historically been one of the leading infection-related causes of death in human populations. To this day, it continues to pose a significant public health threat in African countries, particularly among children. Humans are affected by five Plasmodium species, with Plasmodium falciparum being the most lethal. The study of pathogenic DNA from ancient human remains has been vital in understanding the origin, evolution, and virulence of human-infecting pathogens. However, there have been no complete pre-20th century mitochondrial DNA (mtDNA) or genomic sequences of Plasmodium falciparum reported to date. This gap in knowledge makes it difficult to understand the genetic dynamics of this pathogen in the past. The difficulty in identifying ancient malaria cases through bioarchaeology and the infrequent presence of Plasmodium DNA in ancient bones contribute to these limitations. Here, we present the first complete mtDNA genome of P. falciparum recovered from an archaeological skeleton (a 2nd century CE Roman individual from Italy). The study of the 43-fold mtDNA genome supports the hypothesis of an Indian origin for P. falciparum in Europe and provides evidence for the genetic continuity of this lineage over the past 2,000 years. Additionally, our research highlights that extensive sampling may be necessary for malaria screening to gain insights into the evolution of this vector-borne disease from archaeological samples. Keywords Plasmodium falciparum, malaria, mtDNA, phylogeny, aDNA research bioRxiv preprint doi: https://doi.org/10.1101/2024.03.05.583465; this version posted March 5, 2024. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license. Main Malaria is an infectious disease caused by various Plasmodium species. Among those affecting humans, Plasmodium vivax has the broadest distribution, while Plasmodium falciparum is responsible for the majority of malaria-associated deaths. Currently, malaria's geographic distribution predominantly spans warmer climates near the equator, covering Africa, parts of the Middle East, Southeast Asia, China, and the Americas. Due to its extensive reach and severity, malaria remains one of the most significant health threats to humans. …