Caenorhabditis elegans for rare disease modeling and drug discovery: strategies and strengths.
Caenorhabditis elegans for rare disease modeling and drug discovery: strategies and strengths.
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DOI：
10.1242/dmm.049010
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发表时间：
2021-08-01
影响因子：
4.3
通讯作者：
Golden A
中科院分区：
文献类型：
--
作者：
Kropp PA;Bauer R;Zafra I;Graham C;Golden A
尽管近10%的美国人患有罕见病，但与常见病相比，由于缺乏关注和研究资源，个别罕见病的临床进展受到严重影响。因此，必须在最基本的水平上研究这些疾病，为了解其机制和表型以及潜在的治疗方法奠定基础并提供机会。有效和高效研究罕见疾病的一种策略是使用遗传上易处理的生物体来模拟疾病并了解受影响的基本细胞过程。除了研究功能失调的细胞过程，在简单的生物体中建模罕见疾病提供了筛选能够改善疾病表型的药理学或遗传因素的机会。在罕见疾病建模中表现出色的小型模式生物是线虫秀丽隐杆线虫。C.线虫为研究人类疾病提供了一个理想的系统。分子和细胞过程可以很容易地阐明，分析和改变的方式，可以直接翻译给人类。当与其他模式生物配对并与临床医生合作时，这些C。对秀丽线虫的研究怎么强调都不过分。本综述重点介绍了使用C。elegans以多种方式了解罕见疾病并帮助开发治疗方法。随着技术的不断发展和进步，这种小蛔虫的能力将继续为人类健康提供有意义的临床相关信息。摘要：罕见病研究受益于精确遗传模型的产生。在这里，C. elegans是通过讨论个别研究故事强调。
Although nearly 10% of Americans suffer from a rare disease, clinical progress in individual rare diseases is severely compromised by lack of attention and research resources compared to common diseases. It is thus imperative to investigate these diseases at their most basic level to build a foundation and provide the opportunity for understanding their mechanisms and phenotypes, as well as potential treatments. One strategy for effectively and efficiently studying rare diseases is using genetically tractable organisms to model the disease and learn about the essential cellular processes affected. Beyond investigating dysfunctional cellular processes, modeling rare diseases in simple organisms presents the opportunity to screen for pharmacological or genetic factors capable of ameliorating disease phenotypes. Among the small model organisms that excel in rare disease modeling is the nematode Caenorhabditis elegans. With a staggering breadth of research tools, C. elegans provides an ideal system in which to study human disease. Molecular and cellular processes can be easily elucidated, assayed and altered in ways that can be directly translated to humans. When paired with other model organisms and collaborative efforts with clinicians, the power of these C. elegans studies cannot be overstated. This Review highlights studies that have used C. elegans in diverse ways to understand rare diseases and aid in the development of treatments. With continuing and advancing technologies, the capabilities of this small round worm will continue to yield meaningful and clinically relevant information for human health. Summary: Rare disease research has benefited from the generation of accurate genetic models. Here, the breadth of capabilities in rare disease modeling with C. elegans is emphasized through discussion of individual research stories.
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