Gabriel Diana, Roedl Daniela, Gordon Leslie B, Djabali Karima
Department of Medicine, Epigenetics of skin Aging and Institute for Medical Engineering, Technische Universität München (TUM), Garching bei München, Germany.
Aging Cell. 2015 Feb;14(1):78-91. doi: 10.1111/acel.12300. Epub 2014 Dec 16.
Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670) is a rare multisystem childhood premature aging disorder linked to mutations in the LMNA gene. The most common HGPS mutation is found at position G608G within exon 11 of the LMNA gene. This mutation results in the deletion of 50 amino acids at the carboxyl-terminal tail of prelamin A, and the truncated protein is called progerin. Progerin only undergoes a subset of the normal post-translational modifications and remains permanently farnesylated. Several attempts to rescue the normal cellular phenotype with farnesyltransferase inhibitors (FTIs) and other compounds have resulted in partial cellular recovery. Using proteomics, we report here that progerin induces changes in the composition of the HGPS nuclear proteome, including alterations to several components of the protein degradation pathways. Consequently, proteasome activity and autophagy are impaired in HGPS cells. To restore protein clearance in HGPS cells, we treated HGPS cultures with sulforaphane (SFN), an antioxidant derived from cruciferous vegetables. We determined that SFN stimulates proteasome activity and autophagy in normal and HGPS fibroblast cultures. Specifically, SFN enhances progerin clearance by autophagy and reverses the phenotypic changes that are the hallmarks of HGPS. Therefore, SFN is a promising therapeutic avenue for children with HGPS.
哈钦森-吉尔福德早衰综合征(HGPS,OMIM 176670)是一种罕见的多系统儿童早衰疾病,与LMNA基因突变有关。最常见的HGPS突变位于LMNA基因第11外显子的G608G位置。这种突变导致前体核纤层蛋白A羧基末端尾部缺失50个氨基酸,截短的蛋白质称为早老素。早老素仅经历正常翻译后修饰的一部分,并且始终保持法尼基化。使用法尼基转移酶抑制剂(FTIs)和其他化合物挽救正常细胞表型的几次尝试已导致部分细胞恢复。通过蛋白质组学,我们在此报告早老素会诱导HGPS核蛋白质组组成的变化,包括蛋白质降解途径的几个成分的改变。因此,HGPS细胞中的蛋白酶体活性和自噬受损。为了恢复HGPS细胞中的蛋白质清除,我们用萝卜硫素(SFN)处理HGPS培养物,萝卜硫素是一种源自十字花科蔬菜的抗氧化剂。我们确定SFN可刺激正常和成HGPS成纤维细胞培养物中的蛋白酶体活性和自噬。具体而言,SFN通过自噬增强早老素清除,并逆转作为HGPS标志的表型变化。因此,SFN是治疗HGPS儿童的一个有前景的治疗途径。