Dilara YÜCEDAL, Ahmet ARMAN
Journal of Clinical Research in Pediatric Endocrinology - 2026;18(1):97-104
Objective: Spinal muscular atrophy (SMA) is the most common neurodegenerative disease caused by the absence or insufficiency of the survival motor neuron (SMN) protein. Human SMN1 (hSMN1) produces fully functional SMN protein but hSMN2 produces only about 10% functional protein. Deletion or mutation in hSMN1 gene leads to SMA, while the hSMN2 copy number modifies disease severity. Increasing hSMN2 expression has emerged as a potential therapeutic approach. In this study, we investigated the effect of growth hormone (GH) on hSMN2 promoter activity using a reporter in Chinese hamster ovary (CHO) cells.
