Hereditary hyperferritinemia cataract syndrome: ferritin L gene and physiopathology behind the disease - report of new cases
Autor/a
Celma Nos, Ferran
Hernández, Gonzalo
Ferrer-Cortès, Xènia
Hernandez-Rodriguez, Ines
Navarro-Almenzar, Begoña
Fuster, José Javier
Bermúdez Cortés, Mar
Pérez-Montero, Santiago
Tornador, Cristian
Sanchez-Fernandez, Mayka
Fecha de publicación
2021ISSN
1422-0067
Resumen
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.
Tipo de documento
Artículo
Versión del documento
Versión publicada
Lengua
English
Materias (CDU)
61 - Medicina
617 - Cirugía. Ortopedia. Oftalmología
Palabras clave
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
Páginas
9
Publicado por
MDPI
Colección
22; 11
Publicado en
International Journal of Molecular Sciences
Citación
Celma Nos, Ferran; Hernández, Gonzalo; Ferrer-Cortès, Xènia [et al.]. Hereditary hyperferritinemia cataract syndrome: ferritin L gene and physiopathology behind the disease - report of new cases. International Journal of Molecular Sciences, 2021, 22(11), 5451. Disponible en: <https://www.mdpi.com/1422-0067/22/11/5451>. Fecha de acceso: 9 dic. 2021. DOI: 10.3390/ijms22115451
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