Aberrant SOX10 and RET expressions in patients with Hirschsprung disease.

ABSTRACT:

Background

HSCR is a complex genetic disorder characterized by the absence of ganglion cells in the intestine, leading to a functional obstruction. It is due to a disruption of complex signaling pathways within the gene regulatory network (GRN) during the development of the enteric nervous system (ENS), including SRY-Box Transcription Factor 10 (SOX10) and REarranged during Transfection (RET). This study evaluated the expressions of SOX10 and RET in HSCR patients in Indonesia.

Methods

Total RNA of 19 HSCR ganglionic and aganglionic colons and 16 control colons were analyzed using quantitative real-time polymerase chain reaction for SOX10 and RET with GAPDH as the reference gene. Livak's method (2^-ΔΔC_T) was used to determine the expression levels of SOX1

SUBMITTER: Gunadi 

PROVIDER: S-EPMC10943800 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature