Islam Moydul, Rawnsley David R, Ma Xiucui, Navid Walter, Zhao Chen, Foroughi Layla, Murphy John T, Navid Honora, Weinheimer Carla J, Kovacs Attila, Nigro Jessica, Diwan Aaradhya, Chang Ryan, Kumari Minu, Young Martin E, Razani Babak, Margulies Kenneth B, Abdellatif Mahmoud, Sedej Simon, Javaheri Ali, Covey Douglas F, Mani Kartik, Diwan Abhinav
bioRxiv. 2024 Sep 3:2024.08.30.610556. doi: 10.1101/2024.08.30.610556.
Protein aggregates are emerging therapeutic targets in rare monogenic causes of cardiomyopathy and amyloid heart disease, but their role in more prevalent heart failure syndromes remains mechanistically unexamined. We observed mis-localization of desmin and sarcomeric proteins to aggregates in human myocardium with ischemic cardiomyopathy and in mouse hearts with post-myocardial infarction ventricular remodeling, mimicking findings of autosomal-dominant cardiomyopathy induced by R120G mutation in the cognate chaperone protein, CRYAB. In both syndromes, we demonstrate increased partitioning of CRYAB phosphorylated on serine-59 to NP40-insoluble aggregate-rich biochemical fraction. While CRYAB undergoes phase separation to form condensates, the phospho-mimetic mutation of serine-59 to aspartate (S59D) in CRYAB mimics R120G-CRYAB mutants with reduced condensate fluidity, formation of protein aggregates and increased cell death. Conversely, changing serine to alanine (phosphorylation-deficient mutation) at position 59 (S59A) restored condensate fluidity, and reduced both R120G-CRYAB aggregates and cell death. In mice, S59D CRYAB knock-in was sufficient to induce desmin mis-localization and myocardial protein aggregates, while S59A CRYAB knock-in rescued left ventricular systolic dysfunction post-myocardial infarction and preserved desmin localization with reduced myocardial protein aggregates. 25-Hydroxycholesterol attenuated CRYAB serine-59 phosphorylation and rescued post-myocardial infarction adverse remodeling. Thus, targeting CRYAB phosphorylation-induced condensatopathy is an attractive strategy to counter ischemic cardiomyopathy.
蛋白质聚集体正成为罕见单基因心肌病和淀粉样心脏病的治疗靶点,但其在更常见的心力衰竭综合征中的作用在机制上仍未得到研究。我们观察到,在患有缺血性心肌病的人类心肌以及患有心肌梗死后心室重塑的小鼠心脏中,结蛋白和肌节蛋白会错误定位于聚集体中,这与同源伴侣蛋白CRYAB中R120G突变诱导的常染色体显性心肌病的发现相似。在这两种综合征中,我们都证明,丝氨酸59磷酸化的CRYAB在富含NP40不溶性聚集体的生化组分中的分配增加。虽然CRYAB会发生相分离以形成凝聚物,但CRYAB中丝氨酸59突变为天冬氨酸(S59D)的磷酸模拟突变模仿了R120G-CRYAB突变体,其凝聚物流动性降低、蛋白质聚集体形成增加且细胞死亡增加。相反,将第59位的丝氨酸变为丙氨酸(磷酸化缺陷突变,S59A)可恢复凝聚物流动性,并减少R120G-CRYAB聚集体和细胞死亡。在小鼠中,敲入S59D CRYAB足以诱导结蛋白错误定位和心肌蛋白聚集体,而敲入S59A CRYAB可挽救心肌梗死后的左心室收缩功能障碍,并保留结蛋白定位,同时减少心肌蛋白聚集体。25-羟基胆固醇可减弱CRYAB丝氨酸59磷酸化,并挽救心肌梗死后的不良重塑。因此,针对CRYAB磷酸化诱导的凝聚物病变是对抗缺血性心肌病的一种有吸引力的策略。