Transcriptional profiling of Hutchinson-Gilford Progeria patients identifies primary target pathways of progerin.

ABSTRACT: Hutchinson Gilford Progeria Syndrome (HGPS) is an ultra-rare pediatric premature aging disorder. The disease is caused by a point mutation in the LMNA gene leading to the production of the dominant-negative progerin isoform of the nuclear envelope protein lamin A. Disease severity and progression amongst the population of ~140 known patients is variable. Most of the mechanistic insights into the disease have come from studies using cellular or mouse models of HGPS. To probe the clinical relevance of previously implicated cellular pathways and to address the extent of gene expression heterogeneity between patients, we have performed transcriptomic analysis of a comprehensive set of HGPS patients. We find misexpression of several cellular pathways across the patient population, partic

SUBMITTER: Vidak S 

PROVIDER: S-EPMC12458213 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature