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Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases

Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. This disorder is produced by mutations in the iron responsive element (IRE) located in the 5′ untranslated reg...

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Autores principales: Celma Nos, Ferran, Hernández, Gonzalo, Ferrer-Cortès, Xènia, Hernandez-Rodriguez, Ines, Navarro-Almenzar, Begoña, Fuster, José Luis, Bermúdez Cortés, Mar, Pérez-Montero, Santiago, Tornador, Cristian, Sanchez, Mayka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8196845/
https://www.ncbi.nlm.nih.gov/pubmed/34064225
http://dx.doi.org/10.3390/ijms22115451
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author Celma Nos, Ferran
Hernández, Gonzalo
Ferrer-Cortès, Xènia
Hernandez-Rodriguez, Ines
Navarro-Almenzar, Begoña
Fuster, José Luis
Bermúdez Cortés, Mar
Pérez-Montero, Santiago
Tornador, Cristian
Sanchez, Mayka
author_facet Celma Nos, Ferran
Hernández, Gonzalo
Ferrer-Cortès, Xènia
Hernandez-Rodriguez, Ines
Navarro-Almenzar, Begoña
Fuster, José Luis
Bermúdez Cortés, Mar
Pérez-Montero, Santiago
Tornador, Cristian
Sanchez, Mayka
author_sort Celma Nos, Ferran
collection PubMed
description Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. This disorder is produced by mutations in the iron responsive element (IRE) located in the 5′ untranslated regions (UTR) of the light ferritin (FTL) gene. A canonical IRE is a mRNA structure that interacts with the iron regulatory proteins (IRP1 and IRP2) to post-transcriptionally regulate the expression of proteins related to iron metabolism. Ferritin L and H are the proteins responsible for iron storage and intracellular distribution. Mutations in the FTL IRE abrogate the interaction of FTL mRNA with the IRPs, and de-repress the expression of FTL protein. Subsequently, there is an overproduction of ferritin that accumulates in serum (hyperferritinemia) and excess ferritin precipitates in the lens, producing cataracts. To illustrate this disease, we report two new families affected with hereditary hyperferritinemia-cataract syndrome with previous known mutations. In the diagnosis of congenital bilateral cataracts, HHCS should be taken into consideration and, therefore, it is important to test serum ferritin levels in patients with cataracts.
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spelling pubmed-81968452021-06-13 Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases Celma Nos, Ferran Hernández, Gonzalo Ferrer-Cortès, Xènia Hernandez-Rodriguez, Ines Navarro-Almenzar, Begoña Fuster, José Luis Bermúdez Cortés, Mar Pérez-Montero, Santiago Tornador, Cristian Sanchez, Mayka Int J Mol Sci Case Report Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. This disorder is produced by mutations in the iron responsive element (IRE) located in the 5′ untranslated regions (UTR) of the light ferritin (FTL) gene. A canonical IRE is a mRNA structure that interacts with the iron regulatory proteins (IRP1 and IRP2) to post-transcriptionally regulate the expression of proteins related to iron metabolism. Ferritin L and H are the proteins responsible for iron storage and intracellular distribution. Mutations in the FTL IRE abrogate the interaction of FTL mRNA with the IRPs, and de-repress the expression of FTL protein. Subsequently, there is an overproduction of ferritin that accumulates in serum (hyperferritinemia) and excess ferritin precipitates in the lens, producing cataracts. To illustrate this disease, we report two new families affected with hereditary hyperferritinemia-cataract syndrome with previous known mutations. In the diagnosis of congenital bilateral cataracts, HHCS should be taken into consideration and, therefore, it is important to test serum ferritin levels in patients with cataracts. MDPI 2021-05-21 /pmc/articles/PMC8196845/ /pubmed/34064225 http://dx.doi.org/10.3390/ijms22115451 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Celma Nos, Ferran
Hernández, Gonzalo
Ferrer-Cortès, Xènia
Hernandez-Rodriguez, Ines
Navarro-Almenzar, Begoña
Fuster, José Luis
Bermúdez Cortés, Mar
Pérez-Montero, Santiago
Tornador, Cristian
Sanchez, Mayka
Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases
title Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases
title_full Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases
title_fullStr Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases
title_full_unstemmed Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases
title_short Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases
title_sort hereditary hyperferritinemia cataract syndrome: ferritin l gene and physiopathology behind the disease—report of new cases
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8196845/
https://www.ncbi.nlm.nih.gov/pubmed/34064225
http://dx.doi.org/10.3390/ijms22115451
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