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Updated: Aug 23, 2026

Ferritinophagy: Assessing the Selective Degradation of Iron by Autophagy in Human Fibroblasts
Published on: February 23, 2024
C29G in the iron-responsive element of L-ferritin: a new mutation associated with hyperferritinemia-cataract
Sandra Bosio1, Alessandro Campanella, Enrico Gramaglia
1Dipartimento di Scienze Cliniche e Biologiche, University of Turin, Turin, Italy.
Abstract:
Hyperferritinemia-cataract syndrome (HHCS) is a dominant disorder characterized by high serum ferritin and early onset of bilateral cataract. The disorder is caused by mutations in the iron-responsive element (IRE) of l-ferritin, which disrupt the postranscriptional control of l-ferritin synthesis. Here, we report a new (C>G) mutation which affects base 29 in the loop (c.-169C>G), previously unrecognized as essential for the stem loop stability. The mutation was identified in two members of an Italian family. Computer modeling and electrophoretic mobility shift assay (EMSA) confirm a decreased affinity of the C29G IRE for IRPs control proteins.
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