The research on screening differentially expressed genes in Hirschsprung's disease by using Microarray.

Area of Science:

• Genomics
• Developmental Biology
• Gastroenterology

Background:

• Hirschsprung's disease (HSCR) is a congenital disorder characterized by aganglionosis of the distal colon.
• The precise molecular mechanisms underlying HSCR development remain incompletely understood.
• Gene expression profiling is crucial for elucidating disease pathogenesis.

Purpose of the Study:

• To identify differentially expressed genes in HSCR tissue compared to normal tissue using microarray analysis.
• To establish gene expression profiles for HSCR.
• To investigate the role of HAND2 in HSCR pathogenesis.

Main Methods:

• Microarray analysis (Agilent SurePrint G3 Human GE 8x60K) of colon tissues from 4 HSCR patients.
• RT-PCR validation of microarray results.
• Immunohistochemistry to assess HAND2 expression in the myenteric plexus of 46 HSCR patients.

Main Results:

• 12,125 meaningful expressed genes were identified.
• 622 differentially expressed genes were found between HSCR and normal tissues, with 93.89% upregulated.
• Reduced HAND2 protein expression was observed in the aganglionic segments of the myenteric plexus in HSCR patients (P<0.01).

Conclusions:

• A set of differentially expressed genes in HSCR has been identified, offering insights into disease pathogenesis.
• Reduced HAND2 protein expression in the aganglionic myenteric plexus suggests its involvement in HSCR development.