No changes in heme synthesis in human Friedreich´s ataxia erythroid progenitor cells

Hannes Steinkellner, Himanshu Narayan Singh, Martina U. Muckenthaler, Hans Goldenberg, Rajeswari R. Moganty, Barbara Scheiber-Mojdehkar, Brigitte Sturm, Gene, Available online 12 April 2017, ISSN 0378-1119, doi:10.1016/j.gene.2017.04.014.

The mystery about the involvement of frataxin on iron metabolism raises the question why frataxin deficiency in primary FRDA cells did not lead to changes in biochemical parameters of heme synthesis. It seems that alternative pathways can circumvent the impact of frataxin deficiency on heme synthesis. We show for the first time in primary FRDA patient cells that reduced frataxin levels are still sufficient for heme synthesis and possibly other mechanisms can overcome reduced frataxin levels in this process. Our data strongly support the fact that so far no anemia in FRDA patients was reported.
FRDA patient cells showed no significant changes in iron levels, hemoglobin synthesis, protoporphyrin IX levels, and ferrochelatase activity. Microarray analysis presented 11 genes that were significantly changed in all patients compared to controls. The genes are especially involved in oxidative stress, iron homeostasis and angiogenesis.

 No changes in heme synthesis in human Friedreich´s ataxia erythroid progenitor cells