Contact us   |  

“Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway” shows a link between PIEZO1 and iron metabolism

“Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway” shows a link between PIEZO1 and iron metabolism

2019-11-22
“Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway”  shows a link between PIEZO1 and iron metabolism

The paper has been published in the American Journal of Hematology with the participation of EuroBloodNet experts

According to ORPHANET, Dehydrated hereditary stomatocytosis (DHS), or xerocytosis, is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. The prevalence of DHS is unknown but to date, about more than 100 patients with DHS have been described in the literature.

DHS is an autosomal dominant hemolytic anemia. Most of the patients affected by DHS present mutations in PIEZO1 gene, which encodes a mechanosensitive cation channel. In the paper “Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway” it is demonstrated that patients with DHS have low levels of hepcidin and only a slight increase of ERFE, the erythroid negative regulator of hepcidin. A direct link between PIEZO1 and iron metabolism is proved, defining the channel as a new hepatic iron metabolism regulator and as a possible therapeutic target of iron overload in DHS and other iron-loading anemias.

The paper has been recently published in the American Journal of Hematology, with the participation of EuroBloodNet experts Immacolata Andolfo, Antonella Gambale, Domenico Girelli, Roberta Russo and Achille Iolascon


Related information