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

Autor: José Luis Fuster, Ferran Celma Nos, Begoña Navarro-Almenzar, Ines Hernandez-Rodriguez, Xènia Ferrer-Cortès, Gonzalo Hernández, Mar Bermúdez Cortés, Santiago Pérez-Montero, Mayka Sanchez, Cristian Tornador
Jazyk: angličtina
Rok vydání: 2021
Předmět:
0301 basic medicine
Untranslated region
Gen FTL
Ferritina sérica
Case Report
0302 clinical medicine
Congenital Bilateral Cataracts
hyperferritinemia
Biology (General)
Spectroscopy
biology
General Medicine
IRA
Pathophysiology
Computer Science Applications
Chemistry
FTL gene
cataracts
IRE
Hiperferritinèmia
IRP
Ferritina sèrica
Intracellular
medicine.medical_specialty
QH301-705.5
Cataratas hiperferritinemia
Síndrome de cataratas por hiperferritinemia hereditaria
Síndrome de cataracta d'hiperferritinèmia hereditària
HHCS
Catalysis
Inorganic Chemistry
03 medical and health sciences
Cataracts
Internal medicine
medicine
Physical and Theoretical Chemistry
Molecular Biology
Gene
QD1-999
Messenger RNA
business.industry
Organic Chemistry
serum ferritin
medicine.disease
Ferritin
030104 developmental biology
Endocrinology
030221 ophthalmology & optometry
biology.protein
Cataractes
hereditary hyperferritinemia cataract syndrome
business
Zdroj: International Journal of Molecular Sciences
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
International Journal of Molecular Sciences, Vol 22, Iss 5451, p 5451 (2021)
ISSN: 1422-0067
Popis: 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/publishedVersion
Databáze: OpenAIRE
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