CNR Institute of Molecular Genetics "Luigi Luca Cavalli-Sforza", Unit of Bologna, Bologna, Italy; IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
Ageing Res Rev. 2020 Sep;62:101073. doi: 10.1016/j.arr.2020.101073. Epub 2020 May 21.
Lamin A, a main constituent of the nuclear lamina, is the major splicing product of the LMNA gene, which also encodes lamin C, lamin A delta 10 and lamin C2. Involvement of lamin A in the ageing process became clear after the discovery that a group of progeroid syndromes, currently referred to as progeroid laminopathies, are caused by mutations in LMNA gene. Progeroid laminopathies include Hutchinson-Gilford Progeria, Mandibuloacral Dysplasia, Atypical Progeria and atypical-Werner syndrome, disabling and life-threatening diseases with accelerated ageing, bone resorption, lipodystrophy, skin abnormalities and cardiovascular disorders. Defects in lamin A post-translational maturation occur in progeroid syndromes and accumulated prelamin A affects ageing-related processes, such as mTOR signaling, epigenetic modifications, stress response, inflammation, microRNA activation and mechanosignaling. In this review, we briefly describe the role of these pathways in physiological ageing and go in deep into lamin A-dependent mechanisms that accelerate the ageing process. Finally, we propose that lamin A acts as a sensor of cell intrinsic and environmental stress through transient prelamin A accumulation, which triggers stress response mechanisms. Exacerbation of lamin A sensor activity due to stably elevated prelamin A levels contributes to the onset of a permanent stress response condition, which triggers accelerated ageing.
核纤层蛋白 A 是核纤层的主要组成部分,是 LMNA 基因的主要剪接产物,该基因还编码核纤层蛋白 C、核纤层蛋白 A delta 10 和核纤层蛋白 C2。在发现一组早老综合征(目前称为早老性核纤层病)是由 LMNA 基因突变引起后,核纤层蛋白 A 与衰老过程的关系变得清晰起来。早老性核纤层病包括哈钦森-吉尔福德早衰症、下颌面骨发育不良症、非典型性早衰症和非典型沃纳综合征,这些疾病具有加速衰老、骨吸收、脂肪营养不良、皮肤异常和心血管疾病等致残和危及生命的特征。在早老综合征中,核纤层蛋白 A 的翻译后成熟存在缺陷,积累的不成熟核纤层 A 会影响与衰老相关的过程,如 mTOR 信号、表观遗传修饰、应激反应、炎症、microRNA 激活和机械信号转导。在这篇综述中,我们简要描述了这些途径在生理衰老中的作用,并深入探讨了加速衰老过程的依赖于核纤层蛋白 A 的机制。最后,我们提出核纤层 A 通过短暂的不成熟核纤层 A 积累作为细胞内和环境应激的传感器,触发应激反应机制。由于稳定升高的不成熟核纤层 A 水平导致核纤层 A 传感器活性加剧,从而导致永久性应激反应状态的发生,进而引发加速衰老。