Rudemiller Nathan P, Mattson David L
Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin
Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin.
Am J Physiol Renal Physiol. 2015 Dec 15;309(12):F993-5. doi: 10.1152/ajprenal.00092.2015. Epub 2015 Apr 15.
Human genetic linkage and association studies have nominated many genes as possible contributors to disease. Mutating or deleting these genes in a relevant disease model can validate their association with disease and potentially uncover novel mechanisms of pathogenesis. Targeted genetic mutagenesis has only recently been developed in the rat, and this technique has been applied in the Dahl salt-sensitive (S) rat to investigate human candidate genes associated with hypertension. This mini-review communicates the findings of these studies and displays how targeted genetic mutagenesis may contribute to the discovery of novel therapies for patients.
人类基因连锁与关联研究已确定许多基因可能与疾病有关。在相关疾病模型中对这些基因进行突变或敲除,可以验证它们与疾病的关联,并有可能揭示新的发病机制。靶向基因诱变技术直到最近才在大鼠中得到发展,该技术已应用于Dahl盐敏感(S)大鼠,以研究与高血压相关的人类候选基因。这篇小型综述介绍了这些研究的结果,并展示了靶向基因诱变如何有助于为患者发现新的治疗方法。