Edward A. Doisy Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, 1100 S. Grand Blvd., St. Louis, MO 63104, USA.
National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Cell Rep. 2018 Feb 20;22(8):2006-2015. doi: 10.1016/j.celrep.2018.01.090.
Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disease caused by a truncated lamin A protein (progerin) that drives cellular and organismal decline. HGPS patient-derived fibroblasts accumulate genomic instability, but its underlying mechanisms and contribution to disease remain poorly understood. Here, we show that progerin-induced replication stress (RS) drives genomic instability by eliciting replication fork (RF) stalling and nuclease-mediated degradation. Rampant RS is accompanied by upregulation of the cGAS/STING cytosolic DNA sensing pathway and activation of a robust STAT1-regulated interferon (IFN)-like response. Reducing RS and the IFN-like response, especially with calcitriol, improves the fitness of progeria cells and increases the efficiency of cellular reprogramming. Importantly, other compounds that improve HGPS phenotypes reduce RS and the IFN-like response. Our study reveals mechanisms underlying progerin toxicity, including RS-induced genomic instability and activation of IFN-like responses, and their relevance for cellular decline in HGPS.
亨廷顿氏舞蹈症-吉福德早衰综合征(Hutchinson-Gilford progeria syndrome,HGPS)是一种由截短的核纤层蛋白 A (progerin)引起的过早衰老疾病,可导致细胞和机体衰退。HGPS 患者来源的成纤维细胞积累基因组不稳定性,但其潜在机制及其对疾病的贡献仍知之甚少。在这里,我们发现 progerin 诱导的复制应激(replication stress,RS)通过引发复制叉(replication fork,RF)停滞和核酸酶介导的降解来驱动基因组不稳定性。猖獗的 RS 伴随着 cGAS/STING 细胞质 DNA 感应途径的上调和强大的 STAT1 调节的干扰素(interferon,IFN)样反应的激活。降低 RS 和 IFN 样反应,特别是使用骨化三醇,可改善早衰细胞的适应性并提高细胞重编程的效率。重要的是,其他改善 HGPS 表型的化合物可降低 RS 和 IFN 样反应。我们的研究揭示了 progerin 毒性的机制,包括 RS 诱导的基因组不稳定性和 IFN 样反应的激活,及其在 HGPS 中与细胞衰退的相关性。