An isthmus of isolation: The likely elevated prevalence of genetic disease in ancient Panama and implications for considering rare diseases in paleopathology

Abstract

ObjectiveThis study considers the evidence for elevated frequencies of “rare” diseases in ancient Panama. Indications of population isolation by multidisciplinary sources allow for the possibility that rare inherited conditions may have been maintained at relatively high prevalences in the region due to gene flow restriction. MaterialsA sample of 267 skeletal human remains with diverse demographical characteristics from Pre-Columbian archaeological sites throughout Panama. MethodsRemains were analyzed macroscopically and hard tissue developmental anomalies were documented. ResultsFrequencies of developmental anomalies and hard tissue changes consistent with specific rare genetic diseases, such as osteogenesis imperfecta, on the comparatively few human remains recovered from pre-Columbian archaeological sites are elevated as compared with global averages. ConclusionsThe paleopathological evidence is concordant with a scenario of isolation in Pre-Columbian times and with an increased presence of genetic disorders in the population. SignificanceThis study advocates for the special consideration of rare diseases by paleopathologists in regions where populations may have experienced prolonged geographical or social isolation in the past. LimitationsA dearth of local modern epidemiological data and low sample sizes of preserved human remains in certain regions of the country limited the possibilities of spatiotemporal comparisons of rare disease prevalence. Suggestions for further researchFurther scrutiny of developmental anomalies of genetic origin on ancient Panamanian remains and biomolecular testing of remains for specific disorders should be pursued to confirm the findings of this study.