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New clue to a devastating disease

Jan. 28, 2015, 8:00 AM

Defects in the Sox10 transcription factor may contribute to gastrointestinal dysfunction in the small intestine of patients treated for Hirschsprung’s disease, Vanderbilt University researchers report.

Hirschsprung’s is a potentially fatal congenital disorder that causes problems with passing stool. It occurs in one in every 5,000 live births in the United States, and is caused by the absence of ganglion cells in the colon. The disorder is often treated with surgery to bypass or remove the diseased part of the colon, but many patients continue to experience chronic constipation and decreased bowel function, and some develop colitis.

In the current Cellular and Molecular Gastroenterology and Hepatology, Michelle Southard-Smith, Ph.D., graduate student Melissa Musser and colleagues report that a mutation in the Sox10 gene in a mouse model disrupts the balance of cell types derived from the neural crest and affects gastrointestinal motility.

Their findings suggest a previously unrecognized role for Sox10 in neuronal subtype specification, and may lead to improved diagnostic and therapeutic approaches for this disease.

The research was funded in part by National Institutes of Health grants DK060047, DK096831, TR000445 and GM007347 (for the Medical Scientist Training Program) and an award from the March of Dimes (FY12-450).

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