Sperm DNA methylation profiling in patients with Kallmann syndrome.

ABSTRACT:

Objective

This study aims to comprehensively characterize the DNA methylation profile in the sperm of patients with Kallmann syndrome (KS), providing new insights into the potential epigenetic mechanisms contributing to the pathogenesis of the disease.

Methods

Sperm samples from patients with KS and healthy controls (HCs) were analyzed for DNA methylation patterns. Differentially methylated regions (DMRs) were identified, and the associated genes underwent enrichment analysis. Spermatogenesis-related genes were screened, analyzed for functional enrichment, and key genes were identified using the STRING database and CytoHubba. Their correlations with semen parameters were then evaluated.

Results

This study analyzed six patients with KS and six age-matched HCs, revealin

SUBMITTER: Wang R 

PROVIDER: S-EPMC12538556 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature