Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5589725 | Gene | 2017 | 29 Pages |
Abstract
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.
Keywords
HPRT1ISCAPPPMSFSCFTLR4RBCs5-ALAFECHferrochelataseTNFAIP3FRDAFxnECLIANaFEPAS1NDRG1WT1SLC40A1SELPSEPP1EPOPBSPPIXSECAASFASmRNARed blood cellsBSAmessenger RNARNA interferenceRNAiFriedreich's ataxiabovine serum albuminerythropoietinElectrochemiluminescence immunoassaystandard deviationiron-sulfur clusterVascular endothelial growth factorVascular Endothelial Growth Factor (VEGF)Stem Cell FactorFrataxinPhosphate buffered salineSodium fluoridephenylmethylsulfonyl fluorideHeme pathwayHemoglobinHypoxanthine phosphoribosyltransferase 1polymerase chain reactionPCRamyloid beta precursor proteinprotoporphyrin IXToll-like receptor 4
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Authors
Hannes Steinkellner, Himanshu Narayan Singh, Martina U. Muckenthaler, Hans Goldenberg, Rajeswari R. Moganty, Barbara Scheiber-Mojdehkar, Brigitte Sturm,