Cashman Timothy J, Saheera Sherin, Blau Ashley E, Mensah Otabil Edith, Nagy Nouran Y, Samenuk Thomas D, Fitzgibbons Timothy P, McManus David D, Trivedi Chinmay M
Division of Cardiovascular Medicine, Department of Medicine.
Program in Digital Medicine, Department of Medicine; and.
JCI Insight. 2025 Sep 9;10(17). doi: 10.1172/jci.insight.188562.
Aortic valve stenosis is a progressive and increasingly prevalent disease in older adults, with no approved pharmacologic therapies to prevent or slow its progression. Although genetic risk factors have been identified, the contribution of epigenetic regulation remains poorly understood. Here, we demonstrated that histone deacetylase 3 (HDAC3) maintains aortic valve structure by suppressing mitochondrial biogenesis and preserving extracellular matrix integrity in valvular interstitial fibroblasts. Human stenotic valves displayed elevated acetylation of histone H3 at lysine 27 (H3K27ac) and reduced HDAC3 activity in diseased regions. Mice lacking HDAC3 in aortic valves developed aortic valve stenosis, disrupted collagen organization, increased H3K27ac, and premature mortality. Mechanistically, HDAC3 loss led to activation of nuclear hormone receptor-regulated mitochondrial gene programs, increased oxidative phosphorylation, and reactive oxygen species-induced damage. Treatment with metformin, a mitochondrial complex I inhibitor, restored redox balance, preserved collagen structure, and improved valve function in Hdac3-deficient mice. Supporting these experimental findings, retrospective clinical analysis revealed a significantly lower prevalence and slower progression of aortic valve stenosis in patients treated with metformin. These results uncovered a potentially previously unrecognized role for HDAC3 in coordinating epigenetic and metabolic homeostasis in the aortic valve, suggesting that targeting mitochondrial dysfunction may offer a therapeutic strategy for noncalcific aortic valve disease.
主动脉瓣狭窄是一种在老年人中逐渐进展且日益普遍的疾病,目前尚无经批准的药物疗法来预防或减缓其进展。尽管已经确定了遗传风险因素,但表观遗传调控的作用仍知之甚少。在此,我们证明组蛋白去乙酰化酶3(HDAC3)通过抑制线粒体生物合成和维持瓣膜间质成纤维细胞的细胞外基质完整性来维持主动脉瓣结构。人类狭窄瓣膜在病变区域显示赖氨酸27处组蛋白H3(H3K27ac)的乙酰化增加以及HDAC3活性降低。主动脉瓣中缺乏HDAC3的小鼠发生了主动脉瓣狭窄、胶原组织破坏、H3K27ac增加以及过早死亡。从机制上讲,HDAC3缺失导致核激素受体调节的线粒体基因程序激活、氧化磷酸化增加以及活性氧诱导的损伤。用线粒体复合物I抑制剂二甲双胍治疗可恢复氧化还原平衡、保留胶原结构并改善Hdac3缺陷小鼠的瓣膜功能。支持这些实验结果的是,回顾性临床分析显示,接受二甲双胍治疗的患者主动脉瓣狭窄的患病率显著降低且进展较慢。这些结果揭示了HDAC3在协调主动脉瓣表观遗传和代谢稳态方面可能以前未被认识到的作用,表明针对线粒体功能障碍可能为非钙化性主动脉瓣疾病提供一种治疗策略。