Abstract

GOMEZ-HERNANDEZ, Madelin; SOTO-OSPINA, Alejandro  and  VILLEGAS-LANAU, Andrés. Bioinformatic characterization of post-translational modifications related to the T30I missense mutation in the ferritin light chain protein and its effect on hyperferritinemia with cataracts. Rev. acad. colomb. cienc. exact. fis. nat. [online]. 2025, vol.49, n.193, pp.703-713.  Epub Dec 19, 2025. ISSN 0370-3908.  https://doi.org/10.18257/raccefyn.3228.

Ferritin is a highly conserved protein; however, mutations in its primary sequence may be associated with various diseases. Among them is hyperferritinemia with cataracts, related to the T30I missense mutation in the ferritin light chain, for which some molecular mechanisms have been proposed, but the role of the post-translational modifications involved has not yet been fully elucidated. Here, we performed a bioinformatic characterization of the post-translational modifications altered by this mutation using database searches and predictive tools such as NetNGlyc 1.0, NetOGlyc 4.0, NetPhos 3.1, and Reactome. The analyses suggest a loss of phosphorylation at serine 33 by the CKI kinase, which affects the Wnt/β-catenin signaling pathway. These results support the hypothesis that alterations in the post-translational modifications of the ferritin light chain may constitute a potential molecular mechanism related to cataract development in hereditary hyperferritinemia.

Keywords : Ferritin; Hyperferritinemia with cataracts-HHCS; Wnt/β-catenin pathway; Cataracts.

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