Plasma Lipidome, PNPLA3 polymorphism and hepatic steatosis in hereditary hemochromatosis.

ABSTRACT:

Background

Hereditary hemochromatosis (HH) is an autosomal recessive genetic disorder with increased intestinal iron absorption and therefore iron Overload. iron overload leads to increased levels of toxic non-transferrin bound iron which results in oxidative stress and lipid peroxidation. The impact of iron on lipid metabolism is so far not fully understood. The aim of this study was to investigate lipid metabolism including lipoproteins (HDL, LDL), neutral (triglycerides, cholesterol) and polar lipids (sphingo- and phospholipids), and PNPLA3 polymorphism (rs738409/I148M) in HH.

Methods

We conducted a cohort study of 54 subjects with HH and 20 healthy subjects. Patients were analyzed for their iron status including iron, ferritin, transferrin and transferrin saturation and

SUBMITTER: Seeßle J 

PROVIDER: S-EPMC7368730 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature