生活在极端条件下的人类适应性及其对健康的影响综述

4区生物学 Q2 Medicine Human Biology Pub Date : 2024-04-01 DOI:10.1353/hub.2017.a925563

Brad Nisipeanu, Robert Lalonde

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引用次数: 0

摘要

了解生活在极端条件下的人的基因变异，有可能治疗因暴露于热、冷、脂肪饮食、缺氧和病原体而引起的疾病。与耐热性相关的一个候选基因是 ACE1，它编码血管紧张素转换酶 1。耐寒性或脂肪饮食与几个基因的多态性也有关联，包括编码α-肌动蛋白-3的ACTN3和编码肉碱棕榈酰基转移酶1A的CPTIA。编码内皮 PAS 结构域蛋白 1 的 EPAS1 基因和编码 Egl-9 家族缺氧诱导因子 1 的 EGLN1 基因的多态性已被确认在耐缺氧性方面具有突出作用。赋予人类对病原体抵抗力的变异包括编码血红蛋白亚基 beta 的 HBB 和编码血管紧张素转换酶 2 的 ACE2。有关疟疾等疾病和缺氧等病症的基因知识将继续推动基因疗法的进步。

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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.

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来源期刊

Human Biology 生物-生物学

CiteScore

1.90

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Human Biology publishes original scientific articles, brief communications, letters to the editor, and review articles on the general topic of biological anthropology. Our main focus is understanding human biological variation and human evolution through a broad range of approaches. We encourage investigators to submit any study on human biological diversity presented from an evolutionary or adaptive perspective. Priority will be given to interdisciplinary studies that seek to better explain the interaction between cultural processes and biological processes in our evolution. Methodological papers are also encouraged. Any computational approach intended to summarize cultural variation is encouraged. Studies that are essentially descriptive or concern only a limited geographic area are acceptable only when they have a wider relevance to understanding human biological variation. Manuscripts may cover any of the following disciplines, once the anthropological focus is apparent: human population genetics, evolutionary and genetic demography, quantitative genetics, evolutionary biology, ancient DNA studies, biological diversity interpreted in terms of adaptation (biometry, physical anthropology), and interdisciplinary research linking biological and cultural diversity (inferred from linguistic variability, ethnological diversity, archaeological evidence, etc.).