TY - JOUR
T1 - Intra-individual variability in ancient plasmodium DNA recovery highlights need for enhanced sampling
AU - Llanos-Lizcano, Alejandro
AU - Hämmerle, Michelle
AU - Sperduti, Alessandra
AU - Sawyer, Susanna
AU - Zagorc, Brina
AU - Özdoğan, Kadir Toykan
AU - Guellil, Meriam
AU - Cheronet, Olivia
AU - Kuhlwilm, Martin
AU - Pinhasi, Ron
AU - Gelabert, Pere
N1 - Publisher Copyright:
© The Author(s) 2025.
PY - 2025/1/4
Y1 - 2025/1/4
N2 - Malaria has been a leading cause of death in human populations for centuries and remains a major public health challenge in African countries, especially affecting children. Among the five Plasmodium species infecting humans, Plasmodium falciparum is the most lethal. Ancient DNA research has provided key insights into the origins, evolution, and virulence of pathogens that affect humans. However, extensive screening of ancient skeletal remains for Plasmodium DNA has shown that such genomic material is rare, with no studies so far addressing potential intra-individual variability. Consequently, the pool of ancient mitochondrial DNA (mtDNA) or genomic sequences for P. falciparum is extremely limited, with fewer than 20 ancient sequences available for genetic analysis, and no complete P. falciparum mtDNA from Classical antiquity published to date. To investigate intra-individual diversity and genetic origins of P. falciparum from the Roman period, we generated 39 sequencing libraries from multiple teeth and two from the femur of a Roman malaria-infected individual. The results revealed considerable variability in P. falciparum recovery across different dental samples within the individual, while the femur samples showed no preservation of Plasmodium DNA. The reconstructed 43-fold P. falciparum mtDNA genome supports the hypothesis of an Indian origin for European P. falciparum and suggests mtDNA continuity in Europe over the past 2000 years.
AB - Malaria has been a leading cause of death in human populations for centuries and remains a major public health challenge in African countries, especially affecting children. Among the five Plasmodium species infecting humans, Plasmodium falciparum is the most lethal. Ancient DNA research has provided key insights into the origins, evolution, and virulence of pathogens that affect humans. However, extensive screening of ancient skeletal remains for Plasmodium DNA has shown that such genomic material is rare, with no studies so far addressing potential intra-individual variability. Consequently, the pool of ancient mitochondrial DNA (mtDNA) or genomic sequences for P. falciparum is extremely limited, with fewer than 20 ancient sequences available for genetic analysis, and no complete P. falciparum mtDNA from Classical antiquity published to date. To investigate intra-individual diversity and genetic origins of P. falciparum from the Roman period, we generated 39 sequencing libraries from multiple teeth and two from the femur of a Roman malaria-infected individual. The results revealed considerable variability in P. falciparum recovery across different dental samples within the individual, while the femur samples showed no preservation of Plasmodium DNA. The reconstructed 43-fold P. falciparum mtDNA genome supports the hypothesis of an Indian origin for European P. falciparum and suggests mtDNA continuity in Europe over the past 2000 years.
KW - Humans
KW - Plasmodium falciparum/genetics
KW - DNA, Ancient/analysis
KW - DNA, Mitochondrial/genetics
KW - DNA, Protozoan/genetics
KW - Malaria, Falciparum/parasitology
KW - Genetic Variation
KW - Phylogeny
KW - Sequence Analysis, DNA/methods
UR - http://www.scopus.com/inward/record.url?scp=85214084069&partnerID=8YFLogxK
U2 - 10.1038/s41598-024-85038-z
DO - 10.1038/s41598-024-85038-z
M3 - Article
C2 - 39755798
AN - SCOPUS:85214084069
SN - 2045-2322
VL - 15
JO - Scientific Reports
JF - Scientific Reports
IS - 1
M1 - 757
ER -