GEO 数据集

主题由标题与摘要自动归类；样本量为数据集标注之和，SuperSeries 可能与其 SubSeries 重复计算。

• Novel WRN Exon 10 Skipping Mutation Triggers Progerin Accumulation and Premature Aging
  GSE351663Mus musculus6 个样本2026-10-26

  Werner Syndrome (WS) is an autosomal recessive disorder characterized by premature aging and increased susceptibility to various age-related diseases, predominantly caused by mutations in the WRN gene. This study investigated a Chinese patient with WS and partial lipoatrophic diabetes mellitus, aiming to identify a novel pathogenic variant in the WRN gene. High-throughput sequencing was conducted on genomic DNA from a blood sample. The identified homozygous variant (WRN_intron9 c.1270-1G>C) was confirmed, and its pathogenicity was assessed through in silico predictions, structural modeling, and cell function assays. The variant's effect on exon skipping was analyzed, and cellular assays were performed to validate the induced phenotype. The study identifies a novel WRN variant as a potential pathogenic factor in the patient. Simulations predict that the WRN_intron9 c.1270-1G>C mutation triggers exon 10 skipping, deleting one of the two highly homologous peptide regions encoded by exon 10 and exon 11 respectively. Cellular assays confirm senescent phenotype induction and human progerin accumulation, leading to premature cellular senescence.

  计算与 AI