L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases

This research was partially supported by grant SAF2015-70412-R from Spanish Secretary of Research, Development and Innovation (MINECO) Spain to M.S.

Detalles Bibliográficos
Autores: Cadenas, Beatriz, Fita-Torró, Josep, Bermúdez-Cortés, Mar, Hernandez-Rodriguez, Inés, Fuster, José Luis, Llinares, María Esther, Galera, Ana María, Lee Romero, Julia, Pérez-Montero, Santiago, Tornador, Cristian, Sanchez-Fernandez, Mayka
Tipo de recurso: artículo
Fecha de publicación:2019
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:20.500.12328/3071
Acceso en línea:http://hdl.handle.net/20.500.12328/3071
https://dx.doi.org/10.3390/ph12010017
Access Level:acceso abierto
Palabra clave:Ferritina
Hiperferritinèmia hereditària
Metabolisme del ferro
Síndrome de cataractes
Malaltia neurodegenerativa
Hiperferritinemia hereditaria
Metabolismo del hierro
Síndrome de cataratas
Enfermedad neurodegenerativa
Ferritin
Hereditary hyperferritinemia
Iron metabolism
Cataract syndrome
Neurodegenerative disease
61
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spelling L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new casesCadenas, BeatrizFita-Torró, JosepBermúdez-Cortés, MarHernandez-Rodriguez, InésFuster, José LuisLlinares, María EstherGalera, Ana MaríaLee Romero, JuliaPérez-Montero, SantiagoTornador, CristianSanchez-Fernandez, MaykaFerritinaHiperferritinèmia hereditàriaMetabolisme del ferroSíndrome de cataractesMalaltia neurodegenerativaFerritinaHiperferritinemia hereditariaMetabolismo del hierroSíndrome de cataratasEnfermedad neurodegenerativaFerritinHereditary hyperferritinemiaIron metabolismCataract syndromeNeurodegenerative disease61This research was partially supported by grant SAF2015-70412-R from Spanish Secretary of Research, Development and Innovation (MINECO) Spain to M.S.Ferritin is a multimeric protein composed of light (L-ferritin) and heavy (H-ferritin) subunits that binds and stores iron inside the cell. A variety of mutations have been reported in the L-ferritin subunit gene (FTL gene) that cause the following five diseases: (1) hereditary hyperferritinemia with cataract syndrome (HHCS), (2) neuroferritinopathy, a subtype of neurodegeneration with brain iron accumulation (NBIA), (3) benign hyperferritinemia, (4) L-ferritin deficiency with autosomal dominant inheritance, and (5) L-ferritin deficiency with autosomal recessive inheritance. Defects in the FTL gene lead to abnormally high levels of serum ferritin (hyperferritinemia) in HHCS and benign hyperferritinemia, while low levels (hypoferritinemia) are present in neuroferritinopathy and in autosomal dominant and recessive L-ferritin deficiency. Iron disturbances as well as neuromuscular and cognitive deficits are present in some, but not all, of these diseases. Here, we identified two novel FTL variants that cause dominant L-ferritin deficiency and HHCS (c.375+2T > A and 36_42delCAACAGT, respectively), and one previously reported variant (Met1Val) that causes dominant L-ferritin deficiency. Globally, genetic changes in the FTL gene are responsible for multiple phenotypes and an accurate diagnosis is useful for appropriate treatment. To help in this goal, we included a diagnostic algorithm for the detection of diseases caused by defects in FTL gene.info:eu-repo/semantics/publishedVersionMDPI2019info:eu-repo/semantics/article15http://hdl.handle.net/20.500.12328/3071https://dx.doi.org/10.3390/ph12010017reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésPharmaceuticals12;1info:eu-repo/grantAgreement/ES/MINECO/SAF2015-70412-RThis 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/info:eu-repo/semantics/openAccessoai:recercat.cat:20.500.12328/30712026-05-29T05:05:01Z
dc.title.none.fl_str_mv L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases
title L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases
spellingShingle L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases
Cadenas, Beatriz
Ferritina
Hiperferritinèmia hereditària
Metabolisme del ferro
Síndrome de cataractes
Malaltia neurodegenerativa
Ferritina
Hiperferritinemia hereditaria
Metabolismo del hierro
Síndrome de cataratas
Enfermedad neurodegenerativa
Ferritin
Hereditary hyperferritinemia
Iron metabolism
Cataract syndrome
Neurodegenerative disease
61
title_short L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases
title_full L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases
title_fullStr L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases
title_full_unstemmed L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases
title_sort L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases
dc.creator.none.fl_str_mv Cadenas, Beatriz
Fita-Torró, Josep
Bermúdez-Cortés, Mar
Hernandez-Rodriguez, Inés
Fuster, José Luis
Llinares, María Esther
Galera, Ana María
Lee Romero, Julia
Pérez-Montero, Santiago
Tornador, Cristian
Sanchez-Fernandez, Mayka
author Cadenas, Beatriz
author_facet Cadenas, Beatriz
Fita-Torró, Josep
Bermúdez-Cortés, Mar
Hernandez-Rodriguez, Inés
Fuster, José Luis
Llinares, María Esther
Galera, Ana María
Lee Romero, Julia
Pérez-Montero, Santiago
Tornador, Cristian
Sanchez-Fernandez, Mayka
author_role author
author2 Fita-Torró, Josep
Bermúdez-Cortés, Mar
Hernandez-Rodriguez, Inés
Fuster, José Luis
Llinares, María Esther
Galera, Ana María
Lee Romero, Julia
Pérez-Montero, Santiago
Tornador, Cristian
Sanchez-Fernandez, Mayka
author2_role author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Ferritina
Hiperferritinèmia hereditària
Metabolisme del ferro
Síndrome de cataractes
Malaltia neurodegenerativa
Ferritina
Hiperferritinemia hereditaria
Metabolismo del hierro
Síndrome de cataratas
Enfermedad neurodegenerativa
Ferritin
Hereditary hyperferritinemia
Iron metabolism
Cataract syndrome
Neurodegenerative disease
61
topic Ferritina
Hiperferritinèmia hereditària
Metabolisme del ferro
Síndrome de cataractes
Malaltia neurodegenerativa
Ferritina
Hiperferritinemia hereditaria
Metabolismo del hierro
Síndrome de cataratas
Enfermedad neurodegenerativa
Ferritin
Hereditary hyperferritinemia
Iron metabolism
Cataract syndrome
Neurodegenerative disease
61
description This research was partially supported by grant SAF2015-70412-R from Spanish Secretary of Research, Development and Innovation (MINECO) Spain to M.S.
publishDate 2019
dc.date.none.fl_str_mv 2019
dc.type.none.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/20.500.12328/3071
https://dx.doi.org/10.3390/ph12010017
url http://hdl.handle.net/20.500.12328/3071
https://dx.doi.org/10.3390/ph12010017
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Pharmaceuticals
12;1
info:eu-repo/grantAgreement/ES/MINECO/SAF2015-70412-R
dc.rights.none.fl_str_mv 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 15
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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