Comparative proteomics of Hirschsprung's disease.

Hirschsprung's disease (HSCR) is a developmental disorder of the enteric nervous system characterized by aganglionosis in distal gut. The estimated population incidence of HSCR is 1/5000 live births, but higher in Asian populations. As the disease mainly manifested bowel motility disturbance, the underlying mechanism is unknown. Furthermore, in the long term up to 75% of patients showed unsatisfactory postoperative bowel function like incontinence or constipation, and 10% required a permanent colostomy. Improved therapy of HSCR is required, but the pathophysiological mechanism for postoperative bowel dysfunction is not clear. In this study, we perform a proteomics study in HSCR patients, expecting some findings in protein alterations to provide more information to reveal the pathophysiological mechanisms of disturbed bowel function before and after surgery therapy. As a result, we identified 16 proteins expressed differently in aganglionic segment of HSCR patients. These proteins function diversely, and included cytoskeleton proteins, regulatory proteins and some enzymes.