Clinical Enteric Neuroscience Translational and Epidemiological Research (C,E,N,T,E,R,), College of Medicine, Mayo Clinic, Charlton 8-110, 200 First Street SW, Rochester, MN 55905, USA.
Genome Med. 2012 Jun 26;4(6):50. doi: 10.1186/gm349.
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.
急性感染性和慢性腹泻病是重要的公共卫生问题。最近，Fiskerstrand 及其同事的一项研究鉴定了一个具有罕见早发性家族性腹泻的家系。通过连锁分析和外显子测序，作者鉴定出编码肠分泌中起作用的鸟苷酸环化酶 C 受体的 GUCY2C 基因存在杂合错义突变。该家族性腹泻病因的新发现基因不仅为腹泻的新疗法的开发，也为治疗便秘的新药类的开发提供了候选靶点。
