Abstract
Acute infectious and chronic diarrheal diseases are important public health problems. A recent study by Fiskerstrand and colleagues identified a family with a rare early onset familial diarrhea. By linkage analysis and exon sequencing, the authors identified a heterozygous missense mutation in GUCY2C, encoding the guanylate cyclase C receptor, which is involved in intestinal secretion. This newly identified gene in the etiology of a familial diarrhea provides a candidate target for the development not only of new treatments for diarrhea, but also of a new drug class to treat constipation.
Highlights
Acute infectious and chronic diarrheal diseases are important public health problems
It has been shown that secretions from goblet cells include the peptides guanylin [2] and uroguanylin, which have similar amino acid sequences to the heat-stable enterotoxin of E. coli. ese enterotoxins and endogenous peptides bind to guanylate cyclase C (GC-C) and stimulate the production of increased levels of intracellular cyclic guanosine monophosphate
Increased levels of cyclic guanosine monophosphate (cGMP) activate the secretion of chloride ions through the cystic fibrosis transmembrane conductance regulator (CFTR)
Summary
Acute infectious and chronic diarrheal diseases are important public health problems. Keywords Agonist, diarrhea, familial, genetic, guanylate cyclase C, GUCY2C, secretion. Intestinal secretory mechanisms and diarrheal diseases Diarrhea, caused by acute infectious or chronic diseases, may be considered as an imbalance between the approximately 7 l of fluids ingested or secreted into the gastrointestinal tract each day, and the reabsorption of almost an equivalent volume.
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