TKTL1: a new candidate gene in non-obstructive azoospermia.

ABSTRACT:

Research question

What role does TKTL1 gene serve in human spermatogenesis and does its mutation trigger non-obstructive azoospermia (NOA)?

Design

The genetic background of NOA remains poorly explored. Recent studies using next generation sequencing techniques, however, have uncovered some NOA causative genes, including the TKTL1 gene. The aim of this study was to define the function of the TKTL1 gene in human spermatogenesis by inducing its overexpression in human testicular primary (hTP) cells, and verifying these results in male gonad tissue samples collected from patients with NOA determining the genes cluster regulated by TKTL1.

Results

Successful overexpression of the TKTL1 gene was achieved in hTP cells; the TKTL1 gene expression was significantly higher in gen

SUBMITTER: Malcher A 

PROVIDER: S-EPMC12448108 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature