DPC4/Smad4基因失活与幼年性息肉综合征发病的关系

The role of DPC4/Smad4 in the pathogenesy of juvenile polyposis syndrome

幼年性息肉综合征(JPS)是一种以消化道多发幼年性息肉为特征的少见疾病,存在潜在恶性。Smad4蛋白是DPC4基因的编译蛋白,在TGF-β信号转导中有非常重要的地位。许多研究表明DPC4/Smad4基因失活在JPS患者的诊治中具有非常重要的作用,现对DPC4/Smad4在JPS发病机制中的作用作一综述。

Juvenile polyposis syndrome （JPS） is a rare disease that characterized as multiple juvenile polypi in gastrointestinal tract. JPS has evident potential malignancy. Smad4, a kind of protein compiled by DPC4, is the necessary cellule mediator in TGF-β signal conduction, and is known as a kind of tumor-inhibiting factor. Some researches indicate that the gene mutation of DPC4/Smad4 has significant contribution in the diagnosis and treatment of patients of JPS and their families. This article tries to make a systematic analysis of DPC4/Smad4 and JPS.