Howard Hughes Medical Institute and Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Science. 2011 Apr 15;332(6027):358-61. doi: 10.1126/science.1192149.
Transforming growth factor-β (TGFβ) signaling drives aneurysm progression in multiple disorders, including Marfan syndrome (MFS), and therapies that inhibit this signaling cascade are in clinical trials. TGFβ can stimulate multiple intracellular signaling pathways, but it is unclear which of these pathways drives aortic disease and, when inhibited, which result in disease amelioration. Here we show that extracellular signal-regulated kinase (ERK) 1 and 2 and Smad2 are activated in a mouse model of MFS, and both are inhibited by therapies directed against TGFβ. Whereas selective inhibition of ERK1/2 activation ameliorated aortic growth, Smad4 deficiency exacerbated aortic disease and caused premature death in MFS mice. Smad4-deficient MFS mice uniquely showed activation of Jun N-terminal kinase-1 (JNK1), and a JNK antagonist ameliorated aortic growth in MFS mice that lacked or retained full Smad4 expression. Thus, noncanonical (Smad-independent) TGFβ signaling is a prominent driver of aortic disease in MFS mice, and inhibition of the ERK1/2 or JNK1 pathways is a potential therapeutic strategy for the disease.
转化生长因子-β(TGFβ)信号通路驱动多种疾病(包括马凡综合征,MFS)的动脉瘤进展,目前有抑制该信号级联反应的疗法正在临床试验中。TGFβ 可以刺激多种细胞内信号通路,但尚不清楚这些通路中哪一种驱动主动脉疾病,以及当被抑制时哪种通路会导致疾病改善。我们在这里表明,MFS 小鼠模型中细胞外信号调节激酶(ERK)1 和 2 以及 Smad2 被激活,而针对 TGFβ 的治疗可同时抑制这两种激酶。选择性抑制 ERK1/2 的激活可改善主动脉生长,而 Smad4 缺失则加重了主动脉疾病,并导致 MFS 小鼠过早死亡。Smad4 缺失的 MFS 小鼠独特地表现出 Jun N-末端激酶-1(JNK1)的激活,而 JNK 拮抗剂可改善缺乏或保留完整 Smad4 表达的 MFS 小鼠的主动脉生长。因此,非典型(Smad 非依赖性)TGFβ 信号通路是 MFS 小鼠主动脉疾病的主要驱动因素,抑制 ERK1/2 或 JNK1 通路可能是该疾病的潜在治疗策略。