Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK.
Institute of Translational Genomics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764, Neuherberg, Germany.
Nat Commun. 2021 Jan 20;12(1):467. doi: 10.1038/s41467-020-20761-5.
Osteoarthritis causes debilitating pain and disability, resulting in a considerable socioeconomic burden, yet no drugs are available that prevent disease onset or progression. Here, we develop, validate and use rapid-throughput imaging techniques to identify abnormal joint phenotypes in randomly selected mutant mice generated by the International Knockout Mouse Consortium. We identify 14 genes with functional involvement in osteoarthritis pathogenesis, including the homeobox gene Pitx1, and functionally characterize 6 candidate human osteoarthritis genes in mouse models. We demonstrate sensitivity of the methods by identifying age-related degenerative joint damage in wild-type mice. Finally, we phenotype previously generated mutant mice with an osteoarthritis-associated polymorphism in the Dio2 gene by CRISPR/Cas9 genome editing and demonstrate a protective role in disease onset with public health implications. We hope this expanding resource of mutant mice will accelerate functional gene discovery in osteoarthritis and offer drug discovery opportunities for this common, incapacitating chronic disease.
骨关节炎导致严重疼痛和残疾,造成相当大的社会经济负担,但目前尚无预防疾病发生或进展的药物。在这里,我们开发、验证并使用高通量成像技术来识别由国际基因敲除小鼠联盟随机生成的突变小鼠的异常关节表型。我们确定了 14 个与骨关节炎发病机制相关的具有功能的基因,包括同源盒基因 Pitx1,并在小鼠模型中对 6 个候选人类骨关节炎基因进行了功能表征。我们通过识别野生型小鼠中与年龄相关的退行性关节损伤证明了这些方法的敏感性。最后,我们通过 CRISPR/Cas9 基因组编辑对具有骨关节炎相关 Dio2 基因突变的先前生成的突变小鼠进行表型分析,并证明其在疾病发病中的保护作用,具有公共卫生意义。我们希望这个不断扩大的突变小鼠资源将加速骨关节炎的功能基因发现,并为这种常见的使人丧失能力的慢性疾病提供药物发现机会。