Llanos-Lizcano Alejandro, Hämmerle Michelle, Sperduti Alessandra, Sawyer Susanna, Zagorc Brina, Özdoğan Kadir Toykan, Guellil Meriam, Cheronet Olivia, Kuhlwilm Martin, Pinhasi Ron, Gelabert Pere
Department of Evolutionary Anthropology, University of Vienna, Vienna, Austria.
Facultad de Química y Farmacia, Universidad del Atlántico, Barranquilla, Colombia.
Sci Rep. 2025 Jan 4;15(1):757. doi: 10.1038/s41598-024-85038-z.
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.
几个世纪以来，疟疾一直是人类死亡的主要原因，在非洲国家仍然是一项重大的公共卫生挑战，尤其对儿童影响严重。在感染人类的五种疟原虫中，恶性疟原虫最为致命。古代DNA研究为影响人类的病原体的起源、进化和毒力提供了关键见解。然而，对古代骨骼遗骸进行疟原虫DNA的广泛筛查表明，这种基因组材料很罕见，目前尚无研究探讨潜在的个体内变异性。因此，恶性疟原虫的古代线粒体DNA（mtDNA）或基因组序列库极其有限，可供遗传分析的古代序列不到20个，迄今尚未发表来自古典时代的完整恶性疟原虫mtDNA。为了研究罗马时期恶性疟原虫的个体内多样性和遗传起源，我们从一名感染疟疾的罗马人的多颗牙齿中生成了39个测序文库，并从股骨中生成了两个测序文库。结果显示，个体内不同牙齿样本中恶性疟原虫的回收率存在相当大的变异性，而股骨样本中未发现疟原虫DNA的保存情况。重建的43倍恶性疟原虫mtDNA基因组支持欧洲恶性疟原虫起源于印度的假设，并表明过去2000年欧洲mtDNA的连续性。
