C29G in the iron-responsive element of L-ferritin: A new mutation associated with hyperferritinemia-cataract

Sandra Bosio, Alessandro Campanella, Enrico Gramaglia, Paolo Porporato, Filomena Longo, Laura Cremonesi, Sonia Levi, Clara Camaschella

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)31-34
Number of pages4
JournalBlood cells, molecules & diseases
Volume33
Issue number1
DOIs
Publication statusPublished - Jul 2004

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Keywords

  • c.-169C>G
  • Hyperferritinemia-cataract syndrome
  • L-Ferritin synthesis

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine
  • Hematology

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