C29G in the iron-responsive element of L-ferritin: a new mutation associated with hyperferritinemia-cataract.
(2004) Blood cells, molecules & diseases — Vol. 33, p. 31-34 (2004)
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- 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.
Citations
Bosio, S., Campanella, A., Gramaglia, E., Porporato, P., Longo, F., Cremonesi, L., Levi, S., & Camaschella, C. (2004). C29G in the iron-responsive element of L-ferritin: a new mutation associated with hyperferritinemia-cataract. Blood cells, molecules & diseases, 33, 31-34. https://doi.org/10.1016/j.bcmd.2004.04.010 (Original work published 2004)