MacMillan J C, Shepherd R, Heritage M
Department of Medicine, University of Queensland, Australia.
Baillieres Clin Gastroenterol. 1998 Jun;12(2):275-91. doi: 10.1016/s0950-3528(98)90135-x.
Alagille syndrome (AS) (arteriohepatic dysplasia, Alagille-Watson syndrome) is a multi-system disorder with hepatic, skeletal, eye, cardiac and renal manifestations. It results from mutation of the JAG1 gene, located on chromosome 20, which encodes a ligand for Notch receptor(s). The interactions of Notch receptors and their ligands are crucial in controlling cell fate decisions in a variety of developmental processes. AS varies in its severity, even in the same family, from asymptomatic gene carriers through to lethality due to inoperable cardiac or end-stage liver disease. However, advances in medical and surgical therapy have improved the prognosis at the severe end of the spectrum. It is hoped that the enhanced understanding of the biology of AS resulting from the cloning of the JAG1 gene will enable us to develop additional strategies for more effective treatments.
阿拉吉列综合征（AS）（动脉肝发育不良，阿拉吉列 - 沃森综合征）是一种具有肝脏、骨骼、眼睛、心脏和肾脏表现的多系统疾病。它是由位于20号染色体上的JAG1基因突变引起的，该基因编码Notch受体的配体。Notch受体及其配体的相互作用在多种发育过程中控制细胞命运决定方面至关重要。AS的严重程度各不相同，即使在同一家族中也是如此，从无症状的基因携带者到因无法手术的心脏疾病或终末期肝病导致的死亡。然而，医学和外科治疗的进展改善了严重程度谱末端的预后。希望对JAG1基因克隆所带来的对AS生物学的深入理解，将使我们能够制定出更有效的治疗策略。
