L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases
Visualitza/Obre
Autor/a
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, Mayka
Data de publicació
2019ISSN
1424-8247
Resum
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.
Tipus de document
Article
Versió del document
Versió publicada
Llengua
Anglès
Matèries (CDU)
61 - Medicina
Paraules clau
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
Pàgines
15
Publicat per
MDPI
Col·lecció
12;1
Publicat a
Pharmaceuticals
Citació
Cadenas, Beatriz; Fita-Torró, Josep; Bermúdez-Cortés, Mar [et al.] L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases. Pharmaceuticals, 2019, 12(1), 17. Disponible en: <https://www.mdpi.com/1424-8247/12/1/17>. Fecha de acceso: 17 ene. 2022. DOI: 10.3390/ph12010017
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