Novel ganglion cell marker B3GNT6: A step forward in Hirschsprung's disease diagnosis.

Abstract

Hirschsprung's (HSCR) disease, also known as aganglionic megacolon, or congenital intestinal aganglionosis affects roughly 1 out of every 5000 newborns. It is a birth defect characterized by the partial or complete loss of ganglion cells in the myenteric and submucosal plexus of the distal intestine which leads to ineffective peristalsis, constipation, and obstruction. Clinical assessment and radiological observations might imply HSCR disease, but definitive diagnosis requires biopsy interpretation and confirmation of ganglion cell loss. The difficulty in identifying immature ganglion cells added to the variability in interpreting immunohistochemical markers of ganglion cells warrants the search for new markers. Our recent research identified Beta-1,3-N-acetylglucosaminyltransferase (B3GNT6) as a potential candidate, as it consistently stains the cytoplasm of ganglion cells. To evaluate its utility, we conducted a preliminary assessment of B3GNT6 expression in nineteen gastrointestinal tissue samples and observed cytoplasmic staining in ganglion cells across all samples. This consistent staining pattern suggests B3GNT6 could serve as a reliable marker for diagnosing Hirschsprung's disease. This article serves as a preliminary evaluation of B3GNT6 as a ganglion cell immunohistochemical marker, highlighting its potential significance while acknowledging the need for further validation in larger, more diverse cohorts.