Fondazione Banca degli Occhi del Veneto, Venice, Italy.
Department of Computer Science, ETH Zurich, Zurich, Switzerland.
J Cell Mol Med. 2022 Jul;26(14):3977-3994. doi: 10.1111/jcmm.17434. Epub 2022 Jun 15.
Human epithelial stem cells (ESCs) are characterized by long-term regenerative properties, much dependent on the tissue of origin and varying during their lifespan. We analysed such variables in cultures of ESCs isolated from the skin, conjunctiva, limbus and oral mucosa of healthy donors and patients affected by ectrodactyly-ectodermal dysplasia-clefting syndrome, a rare genetic disorder caused by mutations in the p63 gene. We cultured cells until exhaustion in the presence or in the absence of DAPT (γ-secretase inhibitor; N-[N-(3, 5-difluorophenacetyl)-L-alanyl]-S-phenylglycine T-butyl ester). All cells were able to differentiate in vitro but exhibited variable self-renewal potential. In particular, cells carrying p63 mutations stopped prematurely, compared with controls. Importantly, administration of DAPT significantly extended the replicative properties of all stem cells under examination. RNA sequencing analysis revealed that distinct sets of genes were up- or down-regulated during their lifetime, thus allowing to identify druggable gene networks and off-the-shelf compounds potentially dealing with epithelial stem cell senescence. These data will expand our knowledge on the genetic bases of senescence and potentially pave the way to the pharmacological modulation of ageing in epithelial stem cells.
人类上皮干细胞(ESCs)的特征是具有长期的再生特性,这在很大程度上取决于其起源组织,并在其寿命过程中发生变化。我们分析了从健康供体和患有外胚层发育不良-外胚层-唇裂综合征(一种由 p63 基因突变引起的罕见遗传疾病)的患者的皮肤、结膜、角膜缘和口腔黏膜中分离出的 ESCs 的培养物中的这些变量。我们在存在或不存在 DAPT(γ-分泌酶抑制剂;N-[N-(3,5-二氟苯乙酰基)-L-丙氨酰]-S-苯甘氨酸叔丁酯)的情况下培养细胞,直至耗尽。所有细胞都能够在体外分化,但表现出不同的自我更新潜力。特别是,与对照相比,携带 p63 突变的细胞过早停止。重要的是,DAPT 的给药显著延长了所有受检干细胞的复制特性。RNA 测序分析显示,在它们的生命周期中,不同的基因集被上调或下调,从而可以识别出潜在用于治疗上皮干细胞衰老的可药物靶基因网络和现成化合物。这些数据将扩展我们对衰老遗传基础的认识,并可能为上皮干细胞衰老的药理学调节铺平道路。