早熟
拉明
LMNA公司
生物
早衰
细胞生物学
染色质
基因组不稳定性
DNA损伤
端粒
内生
染色质重塑
沃纳综合征
DNA修复
解旋酶
表观遗传学
核板
衰老
癌症研究
组蛋白
小RNA
遗传学
染色质免疫沉淀
异染色质
细胞核
表型
自噬
突变
生物标志物
Wnt信号通路
基因表达调控
核蛋白
作者
So-Mi Kang,Soyoung Park,Tae-Gyun Woo,Bae-Hoon Kim,Bum-Joon Park
标识
DOI:10.1016/j.mad.2026.112164
摘要
Progerin, a truncated lamin A isoform generated by cryptic LMNA splicing, is the pathogenic driver of Hutchinson-Gilford Progeria Syndrome (HGPS) and has been implicated as a putative marker in natural ageing. Low-level progerin arises in normal tissues, particularly skin, vasculature, and blood-derived cells, where it contributes to nuclear deformation, chromatin disorganization, DNA damage, telomere attrition, mitochondrial stress, stem cell exhaustion, and premature senescence. These cellular effects align with damage accumulation and senescence-based theories of ageing, while HGPS illustrates accelerated convergence of these mechanisms. Endogenous suppressors, including WRN helicase and telomere-protective factors, modulate progerin levels and mitigate its harmful consequences, highlighting the existence of regulatory pathways buffering nuclear lamina stress. Although its detection in normal ageing is constrained by low abundance and tissue specificity, progerin provides domain-rich information about vascular and dermal ageing, complementing systemic measures such as epigenetic clocks. Standardized ultrasensitive assays, longitudinal tissue-resolved studies, and interventional tests targeting upstream drivers or reinforcing endogenous inhibitors are key to validating progerin as part of multimodal biomarker panels. These insights may collectively position progerin as a mechanistic link between premature ageing and physiological ageing, positioning it as a potential component of biomarker strategies.
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