Tavella Sara, di Lillo Alessia, Conti Anastasia, Iannelli Fabio, Mancheno-Ferris Alexandra, Matti Valentina, Di Micco Raffaella, Fagagna Fabrizio d'Adda di
Institute of Molecular Genetics (IGM), National Research Institute (CNR), Pavia, Italy; IFOM ETS - The AIRC Institute of Molecular Oncology, Milan, Italy.
IFOM ETS - The AIRC Institute of Molecular Oncology, Milan, Italy.
DNA Repair (Amst). 2025 May;149:103840. doi: 10.1016/j.dnarep.2025.103840. Epub 2025 Apr 26.
The CRISPR/Cas9 technology is a powerful and versatile tool to disrupt genes' functions by introducing sequence-specific DNA double-strand breaks (DSBs). Here, we repurpose this technology to eradicate aberrant cells by specifically targeting silent and non-functional genomic sequences present only in target cells to be eliminated. Indeed, an intrinsic challenge of most current therapies against cancer and viral infections is the non-specific toxicity that they can induce in normal tissues because of their impact on important cellular mechanisms shared, to different extents, between unhealthy and healthy cells. The CRISPR/Cas9 technology has potential to overcome this limitation; however, so far effectiveness of these approaches was made dependent on the targeting and inactivation of a functional gene product. Here, we generate proof-of-principle evidence by engineering HeLa and RKO cells with a promoterless Green Fluorescent Protein (GFP) construct. The integration of this construct simulates either a genomic alteration, as in cancer cells, or a silent proviral genome. Cas9-mediated DSBs in the GFP sequence activate the DNA damage response (DDR), reduce cell viability and increase mortality. This is associated with increased cell size, multinucleation, cGAS-positive micronuclei accumulation and the activation of an inflammatory response. Pharmacological inhibition of the DNA repair factor DNA-PK enhances cell death. These results demonstrate the therapeutic potential of the CRISPR/Cas9 system in eliminating cells with an aberrant genome, regardless of the expression or the function of the target DNA sequence.
CRISPR/Cas9技术是一种强大且通用的工具,可通过引入序列特异性DNA双链断裂(DSB)来破坏基因功能。在此,我们将该技术重新用于根除异常细胞,具体方法是靶向仅存在于待消除的靶细胞中的沉默和无功能基因组序列。实际上,当前大多数抗癌和抗病毒感染疗法面临的一个内在挑战是它们可能会对正常组织产生非特异性毒性,因为它们会对不健康细胞和健康细胞在不同程度上共有的重要细胞机制产生影响。CRISPR/Cas9技术有潜力克服这一局限性;然而,到目前为止,这些方法的有效性取决于对功能性基因产物的靶向和失活。在此,我们通过用无启动子绿色荧光蛋白(GFP)构建体对HeLa和RKO细胞进行工程改造,生成了原理验证证据。该构建体的整合模拟了癌细胞中的基因组改变或沉默的前病毒基因组。GFP序列中Cas9介导的DSB激活DNA损伤反应(DDR),降低细胞活力并增加死亡率。这与细胞大小增加、多核化、cGAS阳性微核积累以及炎症反应的激活有关。对DNA修复因子DNA-PK的药理学抑制增强细胞死亡。这些结果证明了CRISPR/Cas9系统在消除具有异常基因组的细胞方面的治疗潜力,而与靶DNA序列的表达或功能无关。