A Review of Anthropological Adaptations of Humans Living in Extreme Conditions and Health Implications

Understanding gene variations in people living under extreme conditions has the potential of curing diseases caused by exposure to heat, cold, fatty diets, hypoxia, and pathogens. One candidate gene associated with heat resistance is ACE1, encoding angiotensin-converting enzyme 1. Associations have also been made between cold resistance or fatty diets and polymorphisms of several genes, including ACTN3, encoding alpha-actinin-3, and CPTIA, encoding carnitine palmitoyltransferase 1A. A prominent role in resistance to hypoxia has been recognized for polymorphisms of EPAS1, encoding endothelial PAS domain protein 1, and EGLN1, encoding Egl-9 family hypoxia inducible factor 1. Variants conferring human resistance to pathogens include HBB, encoding hemoglobin subunit beta, and ACE2, encoding angiotensin-converting enzyme 2. Genetic knowledge concerning such diseases as malaria and conditions such as hypoxia should continue to promote advances in gene therapy.