title: C29G in the iron-responsive element of L-ferritin: a new mutation associated with hyperferritinemia-cataract.
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.
authors.affiliation: Dipartimento di Scienze Cliniche e Biologiche, University of Turin, Turin, Italy.
authors.forename: Sandra
authors.initials: S
authors.lastname: Bosio
authors.forename: Alessandro
authors.initials: A
authors.lastname: Campanella
authors.forename: Enrico
authors.initials: E
authors.lastname: Gramaglia
authors.forename: Paolo
authors.initials: P
authors.lastname: Porporato
authors.forename: Filomena
authors.initials: F
authors.lastname: Longo
authors.forename: Laura
authors.initials: L
authors.lastname: Cremonesi
authors.forename: Sonia
authors.initials: S
authors.lastname: Levi
authors.forename: Clara
authors.initials: C
authors.lastname: Camaschella
mesh_terms: D000328:Adult; D001052:Apoferritins; D002386:Cataract / Q000209:etiology* / Q000235:genetics; D024202:Electrophoretic Mobility Shift Assay; D005192:Family Health; D005260:Female; D005293:Ferritins / Q000096:biosynthesis* / Q000097:blood / Q000235:genetics; D006801:Humans; D007223:Infant; D035925:Iron-Regulatory Proteins / Q000378:metabolism; D007558:Italy; D008297:Male; D008958:Models, Molecular; D009690:Nucleic Acid Conformation; D017354:Point Mutation; D011485:Protein Binding; D020218:Response Elements / Q000235:genetics*
chemical_list: D035925:Iron-Regulatory Proteins; D005293:Ferritins; D001052:Apoferritins