Genetic resiliency and the Black Death: No apparent loss of mitogenomic diversity due to the Black Death in medieval London and Denmark

ObjectivesIn the 14th century AD, medieval Europe was severely affected by the Great European Famine as well as repeated bouts of disease, including the Black Death, causing major demographic shifts. This high volatility led to increased mobility and migration due to new labor and economic opportunities, as evidenced by documentary and stable isotope data. This study uses ancient DNA (aDNA) isolated from skeletal remains to examine whether evidence for largeâ scale population movement can be gleaned from the complete mitochondrial genomes of 264 medieval individuals from England (London) and Denmark.Materials and MethodsUsing a novel libraryâ conserving approach to targeted capture, we recovered 264 full mitochondrial genomes from the petrous portion of the temporal bones and teeth and compared genetic diversity across the medieval period within and between English (London) and Danish populations and with contemporary populations through population pairwise ΦST analysis.ResultsWe find no evidence of significant differences in genetic diversity spatially or temporally in our dataset, yet there is a high degree of haplotype diversity in our medieval samples with little exact sequence sharing.DiscussionThe mitochondrial genomes of both medieval Londoners and medieval Danes suggest high mitochondrial diversity before, during and after the Black Death. While our mitochondrial genomic data lack geographically correlated signals, these data could be the result of high, continual female migration before and after the Black Death or may simply indicate a large female effective population size unaffected by the upheaval of the medieval period. Either scenario suggests a genetic resiliency in areas of northwestern medieval Europe.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/149364/1/ajpa23820.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/149364/2/ajpa23820_am.pd

New perspectives on evolutionary medicine: the relevance of microevolution for human health and disease

Evolutionary medicine (EM) is a growing field focusing on the evolutionary basis of human diseases and their changes through time. To date, the majority of EM studies have used pure theories of hominin macroevolution to explain the present-day state of human health. Here, we propose a different approach by addressing more empirical and health-oriented research concerning past, current and future microevolutionary changes of human structure, functions and pathologies. Studying generation-to-generation changes of human morphology that occurred in historical times, and still occur in present-day populations under the forces of evolution, helps to explain medical conditions and warns clinicians that their current practices may influence future humans. Also, analyzing historic tissue specimens such as mummies is crucial in order to address the molecular evolution of pathogens, of the human genome, and their coadaptations.Frank Jakobus Rühli and Maciej Henneber

Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura

Publisher Copyright: © 2023, The Author(s).Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine subtypes, migraine with aura (MA) and migraine without aura (MO). We identified four new MA-associated variants (in PRRT2, PALMD, ABO and LRRK2) and classified 13 MO-associated variants. Rare variants with large effects highlight three genes. A rare frameshift variant in brain-expressed PRRT2 confers large risk of MA and epilepsy, but not MO. A burden test of rare loss-of-function variants in SCN11A, encoding a neuron-expressed sodium channel with a key role in pain sensation, shows strong protection against migraine. Finally, a rare variant with cis-regulatory effects on KCNK5 confers large protection against migraine and brain aneurysms. Our findings offer new insights with therapeutic potential into the complex biology of migraine and its subtypes.Peer reviewe

Convento di San Francesco a Folloni: The function of a medieval franciscan friary seen through the burials

Background: The Franciscan Friary in Montella near Avellino in Southern Italy is of special interest because according to historical sources it was founded by St. Francis himself in AD 1221-1222. Human remains of several hundred individuals interred in the cloister walk have been unearthed during two excavation campaigns conducted in 2007-2008 and 2010. The environs of the friary have remained rural since the foundation preventing much modern contamination. The state of preservation of the skeletons is fair to good making a suite of analyses worthwhile. Results: The skeletons have been examined anthropologically and tissue samples have been subjected to radiocarbon dating, stable isotope measurements and trace element analyses by Inductively Coupled Plasma Mass Spectrometry and Cold Vapour Atomic Absorption Spectrometry. Conclusions: The radiocarbon dates are consistent with the historical sources and show that the cemetery in the cloister walk has been in uninterrupted use from the foundation of the friary in AD 1221-1222 and until the cemetery went out of use in AD 1524. The anthropological investigations show that the individuals interred at the friary would have been shorter than other Italians from the same time, and it seems that tuberculosis was more prevalent than leprosy. Isotopic measurements show a mixed agricultural and pastoral diet and none of the individuals were consuming marine protein. Based on the trace element analysis it seems that the people resided mainly at two distinct geographical areas, one of which was Montella. One individual stands out from the rest, because he was born and raised at some third geographical location distinct from Montella and because he sports the second oldest radiocarbon date of AD 1050-1249 (two sigma calibrated range). This date is consistent with the first generation of the founders of the friary-perhaps one of St. Francis' fellow travellers from Assisi