Article ; Online: Hereditary hemochromatosis with homozygous C282Y HFE mutation: possible clinical model to assess effects of elevated reactive oxygen species on the development of cardiovascular disease.
Molecular and cellular biochemistry
2023 Volume 479, Issue 3, Page(s) 617–627
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, ... ...
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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MeSH term(s) | Humans ; Cardiovascular Diseases/etiology ; Cardiovascular Diseases/genetics ; Hemochromatosis/complications ; Hemochromatosis/diagnosis ; Hemochromatosis/genetics ; Hemochromatosis Protein/genetics ; Histocompatibility Antigens Class I/genetics ; Iron Overload/genetics ; Iron Overload/diagnosis ; Membrane Proteins/genetics ; Mutation ; Reactive Oxygen Species |
Chemical Substances | Hemochromatosis Protein ; HFE protein, human ; Histocompatibility Antigens Class I ; Membrane Proteins ; Reactive Oxygen Species |
Language | English |
Publishing date | 2023-05-03 |
Publishing country | Netherlands |
Document type | Journal Article ; Review |
ZDB-ID | 184833-1 |
ISSN | 1573-4919 ; 0300-8177 |
ISSN (online) | 1573-4919 |
ISSN | 0300-8177 |
DOI | 10.1007/s11010-023-04726-y |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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