Institute of Cancer and Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
Biogerontology. 2013 Feb;14(1):47-62. doi: 10.1007/s10522-012-9407-2. Epub 2012 Oct 31.
Werner Syndrome (WS) is a human segmental progeria resulting from mutations in a DNA helicase. WS fibroblasts have a shortened replicative capacity, an aged appearance, and activated p38 MAPK, features that can be modulated by inhibition of the p38 pathway. Loss of the WRNp RecQ helicase has been shown to result in replicative stress, suggesting that a link between faulty DNA repair and stress-induced premature cellular senescence may lead to premature ageing in WS. Other progeroid syndromes that share overlapping pathophysiological features with WS also show defects in DNA processing, raising the possibility that faulty DNA repair, leading to replicative stress and premature cellular senescence, might be a more widespread feature of premature ageing syndromes. We therefore analysed replicative capacity, cellular morphology and p38 activation, and the effects of p38 inhibition, in fibroblasts from a range of progeroid syndromes. In general, populations of young fibroblasts from non-WS progeroid syndromes do not have a high level of cells with an enlarged morphology and F-actin stress fibres, unlike young WS cells, although this varies between strains. p38 activation and phosphorylated HSP27 levels generally correlate well with cellular morphology, and treatment with the p38 inhibitor SB203580 effects cellular morphology only in strains with enlarged cells and phosphorylated HSP27. For some syndromes fibroblast replicative capacity was within the normal range, whereas for others it was significantly shorter (e.g. HGPS and DKC). However, although in most cases SB203580 extended replicative capacity, with the exception of WS and DKC the magnitude of the effect was not significantly different from normal dermal fibroblasts. This suggests that stress-induced premature cellular senescence via p38 activation is restricted to a small subset of progeroid syndromes.
Werner 综合征(WS)是一种人类节段性早衰症,由 DNA 解旋酶的突变引起。WS 成纤维细胞的复制能力缩短,外观老化,p38 MAPK 被激活,这些特征可以通过抑制 p38 途径来调节。已经表明,WRNp RecQ 解旋酶的缺失会导致复制应激,这表明 DNA 修复缺陷与应激诱导的过早细胞衰老之间的联系可能导致 WS 中的过早衰老。其他具有与 WS 重叠病理生理特征的早衰综合征也显示出 DNA 加工缺陷,这增加了 DNA 修复缺陷导致复制应激和过早细胞衰老可能是早衰综合征更广泛特征的可能性。因此,我们分析了一系列早衰综合征成纤维细胞的复制能力、细胞形态和 p38 激活,以及 p38 抑制的影响。一般来说,来自非 WS 早衰综合征的年轻成纤维细胞群体不像年轻的 WS 细胞那样具有高水平的形态增大的细胞和 F-肌动蛋白应激纤维,尽管这在不同菌株之间有所不同。p38 激活和磷酸化 HSP27 水平通常与细胞形态很好地相关,并且 p38 抑制剂 SB203580 的处理仅在具有增大细胞和磷酸化 HSP27 的菌株中影响细胞形态。对于一些综合征,成纤维细胞的复制能力在正常范围内,而对于其他综合征则明显缩短(例如 HGPS 和 DKC)。然而,尽管在大多数情况下 SB203580 延长了复制能力,但除了 WS 和 DKC 之外,其效果的幅度与正常皮肤成纤维细胞没有显著差异。这表明通过 p38 激活诱导的应激性过早细胞衰老仅限于一小部分早衰综合征。