Hereditary hyperferritinemia cataract syndrome: ferritin L gene and physiopathology behind the disease - report of new cases

This study was supported by the grant RTI-2018-101735-B-I100 (MCI/AEI/FEDER, EU) from Spanish Secretary of Research, Development and Innovation (MINECO) to M.S. F.C. held an FI-AGAUR predoctoral fellowship (2019FI-B00794) from Generalitat de Catalunya. G.H. is supported by funds provided by the APU...

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Detalles Bibliográficos
Autores: Celma Nos, Ferran, Hernández, Gonzalo, León Llorente, Consuelo, Hernandez-Rodriguez, Ines, Navarro-Almenzar, Begoña, Fuster, José Javier, Bermúdez Cortés, Mar, Pérez-Montero, Santiago, Tornador, Cristian, Sanchez-Fernandez, Mayka
Tipo de recurso: artículo
Fecha de publicación:2021
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:20.500.12328/2997
Acceso en línea:http://hdl.handle.net/20.500.12328/2997
https://dx.doi.org/10.3390/ijms22115451
Access Level:acceso abierto
Palabra clave:Síndrome de cataracta d'hiperferritinèmia hereditària
HHCS
Ferritina sèrica
Gen FTL
Cataractes
Hiperferritinèmia
IRE
IRP
Síndrome de cataratas por hiperferritinemia hereditaria
Ferritina sérica
Cataratas hiperferritinemia
IRA
Hereditary hyperferritinemia cataract syndrome
Serum ferritin
FTL gene
Cataracts
Hyperferritinemia
61
617
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oai_identifier_str oai:recercat.cat:20.500.12328/2997
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repository_id_str
spelling Hereditary hyperferritinemia cataract syndrome: ferritin L gene and physiopathology behind the disease - report of new casesCelma Nos, FerranHernández, GonzaloLeón Llorente, ConsueloHernandez-Rodriguez, InesNavarro-Almenzar, BegoñaFuster, José JavierBermúdez Cortés, MarPérez-Montero, SantiagoTornador, CristianSanchez-Fernandez, MaykaSíndrome de cataracta d'hiperferritinèmia hereditàriaHHCSFerritina sèricaGen FTLCataractesHiperferritinèmiaIREIRPSíndrome de cataratas por hiperferritinemia hereditariaHHCSFerritina séricaGen FTLCataratas hiperferritinemiaIRAIRPHereditary hyperferritinemia cataract syndromeHHCSSerum ferritinFTL geneCataractsHyperferritinemiaIREIRP61617This study was supported by the grant RTI-2018-101735-B-I100 (MCI/AEI/FEDER, EU) from Spanish Secretary of Research, Development and Innovation (MINECO) to M.S. F.C. held an FI-AGAUR predoctoral fellowship (2019FI-B00794) from Generalitat de Catalunya. G.H. is supported by funds provided by the APU and ADISCON Patient associations. X.F-C. is partially supported by funds provided by the grant RTI-2018-101735-B-I100 (MCI/AEI/FEDER, EU).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.info:eu-repo/semantics/publishedVersionMDPI2021info:eu-repo/semantics/article9http://hdl.handle.net/20.500.12328/2997https://dx.doi.org/10.3390/ijms22115451reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésInternational Journal of Molecular Sciences22;11This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.https://creativecommons.org/licenses/by/4.0/https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:20.500.12328/29972026-05-29T05:05:01Z
dc.title.none.fl_str_mv 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
spellingShingle Hereditary hyperferritinemia cataract syndrome: ferritin L gene and physiopathology behind the disease - report of new cases
Celma Nos, Ferran
Síndrome de cataracta d'hiperferritinèmia hereditària
HHCS
Ferritina sèrica
Gen FTL
Cataractes
Hiperferritinèmia
IRE
IRP
Síndrome de cataratas por hiperferritinemia hereditaria
HHCS
Ferritina sérica
Gen FTL
Cataratas hiperferritinemia
IRA
IRP
Hereditary hyperferritinemia cataract syndrome
HHCS
Serum ferritin
FTL gene
Cataracts
Hyperferritinemia
IRE
IRP
61
617
title_short 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_sort Hereditary hyperferritinemia cataract syndrome: ferritin L gene and physiopathology behind the disease - report of new cases
dc.creator.none.fl_str_mv Celma Nos, Ferran
Hernández, Gonzalo
León Llorente, Consuelo
Hernandez-Rodriguez, Ines
Navarro-Almenzar, Begoña
Fuster, José Javier
Bermúdez Cortés, Mar
Pérez-Montero, Santiago
Tornador, Cristian
Sanchez-Fernandez, Mayka
author Celma Nos, Ferran
author_facet Celma Nos, Ferran
Hernández, Gonzalo
León Llorente, Consuelo
Hernandez-Rodriguez, Ines
Navarro-Almenzar, Begoña
Fuster, José Javier
Bermúdez Cortés, Mar
Pérez-Montero, Santiago
Tornador, Cristian
Sanchez-Fernandez, Mayka
author_role author
author2 Hernández, Gonzalo
León Llorente, Consuelo
Hernandez-Rodriguez, Ines
Navarro-Almenzar, Begoña
Fuster, José Javier
Bermúdez Cortés, Mar
Pérez-Montero, Santiago
Tornador, Cristian
Sanchez-Fernandez, Mayka
author2_role author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Síndrome de cataracta d'hiperferritinèmia hereditària
HHCS
Ferritina sèrica
Gen FTL
Cataractes
Hiperferritinèmia
IRE
IRP
Síndrome de cataratas por hiperferritinemia hereditaria
HHCS
Ferritina sérica
Gen FTL
Cataratas hiperferritinemia
IRA
IRP
Hereditary hyperferritinemia cataract syndrome
HHCS
Serum ferritin
FTL gene
Cataracts
Hyperferritinemia
IRE
IRP
61
617
topic Síndrome de cataracta d'hiperferritinèmia hereditària
HHCS
Ferritina sèrica
Gen FTL
Cataractes
Hiperferritinèmia
IRE
IRP
Síndrome de cataratas por hiperferritinemia hereditaria
HHCS
Ferritina sérica
Gen FTL
Cataratas hiperferritinemia
IRA
IRP
Hereditary hyperferritinemia cataract syndrome
HHCS
Serum ferritin
FTL gene
Cataracts
Hyperferritinemia
IRE
IRP
61
617
description This study was supported by the grant RTI-2018-101735-B-I100 (MCI/AEI/FEDER, EU) from Spanish Secretary of Research, Development and Innovation (MINECO) to M.S. F.C. held an FI-AGAUR predoctoral fellowship (2019FI-B00794) from Generalitat de Catalunya. G.H. is supported by funds provided by the APU and ADISCON Patient associations. X.F-C. is partially supported by funds provided by the grant RTI-2018-101735-B-I100 (MCI/AEI/FEDER, EU).
publishDate 2021
dc.date.none.fl_str_mv 2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/20.500.12328/2997
https://dx.doi.org/10.3390/ijms22115451
url http://hdl.handle.net/20.500.12328/2997
https://dx.doi.org/10.3390/ijms22115451
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv International Journal of Molecular Sciences
22;11
dc.rights.none.fl_str_mv https://creativecommons.org/licenses/by/4.0/
https://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 9
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812429

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