Transcriptional profiling of corneal stromal cells derived from patients with keratoconus.

摘要: Keratoconus (KC) is a multi-factorial corneal ectasia with unknown etiology affecting approximately 1:2000 people worldwide. Dysregulated gene expression, using RNA-Seq technology, have been reported in KC tissue. However, the differential expression of genes, stromal cells widely ignored. We utilized mRNA-Seq to analyze primary human derived from five non-Keratoconus healthy (HCF) and four (HKC) donors. Selected genes were further validated real time PCR (RT-PCR). identified 423 differentially expressed 187 down- 236 up-regulated KC-affected cells. Gene ontology analysis WebGestalt indicates enrichment involved cell migration, extracellular matrix, adherens junction, MAPK signaling. Our protein-protein interaction network several seeds, such as EGFR, NEDD4, SNTA1, LGALS3BP, HSPB1, SDC2, MME, HIF1A. work provides an otherwise information on transcriptional changes HKCs, reveals critical mechanisms cellular compartment. It also highlights importance human-based vitro studies disease that currently lacks strong biomarkers animal models.