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.
Original language | English (US) |
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Article number | 50 |
Journal | Genome medicine |
Volume | 4 |
Issue number | 6 |
DOIs |
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State | Published - Jun 26 2012 |
Keywords
- Agonist
- Diarrhea
- Familial
- GUCY2C
- Genetic
- Guanylate cyclase C
- Secretion
ASJC Scopus subject areas
- Molecular Medicine
- Molecular Biology
- Genetics
- Genetics(clinical)