Hereditary Hemochromatosis with Homozygous C282Y HFE Mutation: Possible Clinical Model to Assess Effects of Elevated Reactive Oxygen Species on the Development of Cardiovascular Disease

Overview

Journal Mol Cell Biochem

Publisher Springer

Specialty Biochemistry

Date 2023 May 3

PMID 37133674

Authors

Yukitaka Shizukuda

Douglas R Rosing

Affiliations

Soon will be listed here.

Abstract

Hereditary hemochromatosis with the homozygous C282Y HFE mutation (HH-282H) is a genetic condition which causes iron overload (IO) and elevated reactive oxygen species (ROS) secondary to the IO. Interestingly, even after successful iron removal therapy, HH-282H subjects demonstrate chronically elevated ROS. Raised ROS are also associated with the development of multiple cardiovascular diseases and HH-282H subjects may be at risk to develop these complications. In this narrative review, we consider HH-282H subjects as a clinical model for assessing the contribution of elevated ROS to the development of cardiovascular diseases in subjects with fewer confounding clinical risk factors as compared to other disease conditions with high ROS. We identify HH-282H subjects as a potentially unique clinical model to assess the impact of chronically elevated ROS on the development of cardiovascular disease and to serve as a clinical model to detect effective interventions for anti-ROS therapy.

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