Chronic Pancreatitis: an Update on Genetic Risk Factors

Overview

Journal Curr Opin Gastroenterol

Specialty Gastroenterology

Date 2018 Jun 15

PMID 29901518

Citations 14

Authors

Frank U Weiss

Mariya E Skube

Markus M Lerch

Affiliations

Soon will be listed here.

Abstract

Purpose Of Review: Genetic mutations in genes within and outside of the trypsin-dependent pathologic pathway have been found to be associated with chronic pancreatitis. This review highlights recent developments.

Recent Findings: CTRB1-CTRB2 has been identified as a new risk locus for chronic pancreatitis and the disease mechanism may involve trypsin degradation. Misfolding mutations in PRSS1, CPA1, and CEL, as well as environmental stress factors like tobacco and alcohol can trigger endoplasmic reticulum stress (ER-Stress).

Summary: Protein misfolding as well as enzyme activity changes due to altered autoactivation, intracellular degradation, or enzyme inhibition represent the most important pathological mechanisms of chronic pancreatitis to date. Analysis of composite risk patterns by next-generation sequencing will help elucidate complex gene interactions and identify new potential therapeutic targets.

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