慢性胰腺炎中的遗传风险：错误折叠依赖途径。
Genetic risk in chronic pancreatitis: the misfolding-dependent pathway.
作者信息
Sahin-Tóth Miklós
机构信息
Department of Molecular and Cell Biology, Center for Exocrine Disorders, Boston University Henry M. Goldman School of Dental Medicine, Boston, Massachusetts, USA.
出版信息
Curr Opin Gastroenterol. 2017 Sep;33(5):390-395. doi: 10.1097/MOG.0000000000000380.
PURPOSE OF REVIEW
Genetic risk in chronic pancreatitis is partly due to mutations that cause misfolding of digestive enzymes and elicit endoplasmic reticulum stress. This review examines recent developments in this concept.
RECENT FINDINGS
The best characterized misfolding variants in the highly expressed digestive proteases cationic trypsinogen (PRSS1) and carboxypeptidase A1 (CPA1) are strong, causative risk factors for chronic pancreatitis and may be associated with autosomal dominant hereditary pancreatitis.
SUMMARY
Properties of misfolding digestive enzyme mutants indicate that endoplasmic reticulum stress is a highly relevant pathological mechanism and a potential therapeutic target in chronic pancreatitis.
综述目的
慢性胰腺炎的遗传风险部分归因于导致消化酶错误折叠并引发内质网应激的突变。本综述探讨了这一概念的最新进展。
最新发现
在高表达的消化蛋白酶阳离子胰蛋白酶原（PRSS1）和羧肽酶A1（CPA1）中，特征最明确的错误折叠变体是慢性胰腺炎的强致病风险因素，可能与常染色体显性遗传性胰腺炎有关。
总结
错误折叠的消化酶突变体的特性表明，内质网应激是慢性胰腺炎中高度相关的病理机制和潜在治疗靶点。
Zotero 插件