IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy - PubMed
5 hours ago
- #IVNS1ABP mutation
- #progeroid syndrome
- #cellular senescence
- A new progeroid syndrome with severe neuropathy and intellectual deficits was identified.
- Exome sequencing revealed a homozygous mutation in the IVNS1ABP gene.
- Mutant IVNS1ABP leads to defective cytokinesis, increased DNA damage, and premature cellular senescence.
- Cerebral organoids showed early differentiation of NPCs into neurons.
- Mutant IVNS1ABP dysregulates actin polymerization and organization, contributing to cellular senescence.
- The study used isogenic iPSCs derived from patient fibroblasts to investigate disease mechanisms.