Tauroursodeoxycholic acid: relieving the pathogenesis of HFE C282Y hereditary hemochromatosis.

摘要

We read with interest the article by Pietrangelo, which correctly points out the recent advancement in the field of hemochromatosis and highlights analogies with diabetes. The homozygous C282Ymu-tation of the hemochromatosis protein HFE (the most common form of iron overload disease) induces the formation of protein aggregates that are retained in the endoplasmic reticulum (ER). Recent studies demonstrate HFE C282Y protein aggregates in vivo and in vitro in the ER, associated with the activation of oxidative stress, and thereby advocate the contribution of iron-induced oxidative stress toxicity in the pathogenesis of this disease.