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RET Gene and Hirschsprung Disease: Understanding the Link

Explore the role of the RET gene in Hirschsprung disease, an intestinal disorder characterized by the absence of nerves in parts of the intestine, and learn about its symptoms and treatment options.

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RET Gene and Hirschsprung Disease: Understanding the Link

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  1. Chapter 1: Chromosome 10 DNA Sequence Chromosome 53,283bp Name of Protein 10 Name of Gene ret proto-oncogene RET transcription Amino acid sequence mRNA 1114 aa translation Cytoplasm What does this protein make up or do? A Cell Nucleus The RET gene provides instructions for producing a protein that is involved in signaling within cells. Condition/Disease Hirschsprung

  2. Description of Hirschsprung • Symptoms and characteristics • Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. • Symptoms can depend on how severe the problem is and how old the child is. • The most obvious sign of Hirschsprung's disease is a newborn's failure to have a bowel movement within 48 hours after birth. As viewed by a person with Hirschsprung http://images.radiopaedia.org/images/1439197/f21d24600a33c320e997251a0c21f8_big_gallery.jpeg

  3. Description of Hirschsprung (cont.) • Who is affected? Anyone, but the following have a higher risk: • It is more common in boys than girls • It occurs in one out of 5,000 births. • Approximately 3 to 5 percent of male siblings and 1 percent of female siblings of children with short-segment disease also have the disease. • Outlook or quality of life • surgical treatment, although it is difficult. • most important treatment is surgery to remove the part of the end of the bowel where the enteric nervous system is missing. • Researcher: RB

  4. References • NCBI. http://www.ncbi.nlm.nih.gov/projects/genome/guide/human/index.shtml • http://www.aafp.org/afp/2006/1015/p1319.html • http://ghr.nlm.nih.gov/condition/hirschsprung-disease

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