Human Biology Open Access Pre-Prints
Document Type
Article
Anticipated Volume
94
Anticipated Issue
3
Abstract
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 given 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 malaria and hypoxia should continue to promote advances in gene therapy.
Recommended Citation
Nisipeanu, Brad N. and Lalonde, Robert, "A Review of Anthropological Adaptations of Humans Living in Extreme Conditions and Health Implications" (2024). Human Biology Open Access Pre-Prints. 210.
https://digitalcommons.wayne.edu/humbiol_preprints/210