Identify New Hirschsprung Disease Gene Researchers at the National Human Genome Research Institute at the National Institutes of Health have identified another mutated gene that causes Hirschsprung disease in laboratory mice. The scientists expect to find that the equivalent human gene, when mutated, also causes Hirschsprung disease in people, as has been the case with the four previously discovered mouse Hirschsprung genes. Hirschsprung disease is a highly variable inborn disorder whose chief feature is impaired intestinal function in which part of the colon lacks nerve cells and so is unable to relax. The result is chronic constipation and distention of the abdomen. The disorder, which affects about one in 5,000 US newborns, is usually diagnosed in infancy.
Treatment involves surgical removal of the affected portion of the colon.
The scientists believe the product of the newly identified gene, which they call SOX10, is one of many transcription factors proteins that control which genes are expressed at any given time in any given tissue. By studying this gene and what genes it regulates we will really have an insight into the early development of the peripheral nervous system.