Withrock Isabelle C, Anderson Stephen J, Jefferson Matthew A, McCormack Garrett R, Mlynarczyk Gregory S A, Nakama Aron, Lange Jennifer K, Berg Carrie A, Acharya Sreemoyee, Stock Matthew L, Lind Melissa S, Luna K C, Kondru Naveen C, Manne Sireesha, Patel Bhavika B, de la Rosa Bierlein M, Huang Kuei-Pin, Sharma Shaunik, Hu Hilary Z, Kanuri Sri Harsha, Carlson Steve A
Department of Biomedical Sciences, Iowa State University College of Veterinary Medicine, Ames, IA 50011, USA.
Department of Psychology, Iowa State University College of Liberal Arts and Sciences, Ames, IA 50011, USA.
Genes Dis. 2015 Feb 25;2(3):247-254. doi: 10.1016/j.gendis.2015.02.008. eCollection 2015 Sep.
This review considers available evidence for mechanisms of conferred adaptive advantages in the face of specific infectious diseases. In short, we explore a number of genetic conditions, which carry some benefits in adverse circumstances including exposure to infectious agents. The examples discussed are conditions known to result in resistance to a specific infectious disease, or have been proposed as being associated with resistance to various infectious diseases. These infectious disease-genetic disorder pairings include malaria and hemoglobinopathies, cholera and cystic fibrosis, tuberculosis and Tay-Sachs disease, mycotic abortions and phenylketonuria, infection by enveloped viruses and disorders of glycosylation, infection by filoviruses and Niemann-Pick C1 disease, as well as rabies and myasthenia gravis. We also discuss two genetic conditions that lead to infectious disease hypersusceptibility, although we did not cover the large number of immunologic defects leading to infectious disease hypersusceptibilities. Four of the resistance-associated pairings (malaria/hemogloginopathies, cholera/cystic fibrosis, tuberculosis/Tay-Sachs, and mycotic abortions/phenylketonuria) appear to be a result of selection pressures in geographic regions in which the specific infectious agent is endemic. The other pairings do not appear to be based on selection pressure and instead may be serendipitous. Nonetheless, research investigating these relationships may lead to treatment options for the aforementioned diseases by exploiting established mechanisms between genetically affected cells and infectious organisms. This may prove invaluable as a starting point for research in the case of diseases that currently have no reliably curative treatments, ., HIV, rabies, and Ebola.
本综述探讨了面对特定传染病时所赋予的适应性优势机制的现有证据。简而言之,我们研究了一些遗传状况,这些状况在包括接触传染源在内的不利环境中具有一定益处。所讨论的例子是已知会导致对特定传染病产生抗性,或被认为与对各种传染病的抗性相关的状况。这些传染病与遗传疾病的配对包括疟疾与血红蛋白病、霍乱与囊性纤维化、结核病与泰 - 萨克斯病、霉菌性流产与苯丙酮尿症、包膜病毒感染与糖基化紊乱、丝状病毒感染与尼曼 - 匹克C1病,以及狂犬病与重症肌无力。我们还讨论了两种导致传染病易感性增加的遗传状况,不过我们并未涵盖导致传染病易感性增加的大量免疫缺陷情况。其中四组抗性相关配对(疟疾/血红蛋白病、霍乱/囊性纤维化、结核病/泰 - 萨克斯病以及霉菌性流产/苯丙酮尿症)似乎是特定传染源流行的地理区域中选择压力的结果。其他配对似乎并非基于选择压力,而是可能出于偶然。尽管如此,对这些关系的研究可能会通过利用遗传受影响细胞与感染生物体之间已确立的机制,为上述疾病带来治疗选择。对于目前尚无可靠治愈方法的疾病,如艾滋病、狂犬病和埃博拉,这可能被证明是研究的宝贵起点。