Institute of Cancer and Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, Wales, UK.
J Gerontol A Biol Sci Med Sci. 2013 Sep;68(9):1001-9. doi: 10.1093/gerona/gls336. Epub 2013 Feb 11.
Ataxia-telangiectasia and rad3 (ATR)-related Seckel syndrome is associated with growth retardation and premature aging features. ATR-Seckel fibroblasts have a reduced replicative capacity in vitro and an aged morphology that is associated with activation of stress-associated p38 mitogen-activated protein kinase and phosphorylated HSP27. These phenotypes are prevented using p38 inhibitors, with replicative capacity restored to the normal range. However, this stressed phenotype is retained in telomerase-immortalized ATR-Seckel fibroblasts, indicating that it is independent of telomere erosion. As with normal fibroblasts, senescence in ATR-Seckel is bypassed by p53 abrogation. Young ATR-Seckel fibroblasts show elevated levels of p21(WAF1), p16(INK4A), phosphorylated actin-binding protein cofilin, and phosphorylated caveolin-1, with small molecule drug inhibition of p38 reducing p16(INK4A) and caveolin-1 phosphorylation. In conclusion, ATR-Seckel fibroblasts undergo accelerated aging via stress-induced premature senescence and p38 activation that may underlie certain clinical features of Seckel syndrome, and our data suggest a novel target for pharmacological intervention in this human syndrome.
共济失调毛细血管扩张症和 rad3(ATR)相关的 Seckel 综合征与生长迟缓及早衰特征相关。ATR-Seckel 成纤维细胞在体外的复制能力降低,且具有衰老的形态,这与应激相关的 p38 丝裂原活化蛋白激酶和磷酸化 HSP27 的激活有关。使用 p38 抑制剂可以预防这些表型,将复制能力恢复到正常范围。然而,在端粒酶永生化的 ATR-Seckel 成纤维细胞中保留了这种应激表型,表明其独立于端粒侵蚀。与正常成纤维细胞一样,ATR-Seckel 中的衰老可通过 p53 缺失来绕过。年轻的 ATR-Seckel 成纤维细胞表现出高水平的 p21(WAF1)、p16(INK4A)、磷酸化肌动蛋白结合蛋白 cofilin 和磷酸化 caveolin-1,小分子药物抑制 p38 可降低 p16(INK4A)和 caveolin-1 的磷酸化。总之,ATR-Seckel 成纤维细胞通过应激诱导的过早衰老和 p38 的激活而加速衰老,这可能是 Seckel 综合征某些临床特征的基础,我们的数据表明在这种人类综合征中存在新的药物干预靶点。