L-ferritin : One gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia-report of new cases
Cadenas, Beatriz (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Fita-Torró, Josep (BloodGenetics SL. Esplugues de Llobregat)
Bermúdez-Cortés, Mar (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia))
Hernandez-Rodriguez, Inés (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Fuster, José Luis (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia))
Llinares, María Esther (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia))
Galera, Ana (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia))
Romero, Julia Lee (Biomedical Engineering Department. University of Texas at Austin)
Pérez-Montero, Santiago (BloodGenetics SL. Esplugues de Llobregat)
Tornador, Cristian (BloodGenetics SL. Esplugues de Llobregat)
Sánchez-Fernández, Mayka (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Universitat Autònoma de Barcelona

Fecha:	2019
Resumen:	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.
Ayudas:	Ministerio de Economía y Competitividad SAF2015-70412-R
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Materia:	Cataracts syndrome ; Ferritin ; Hereditary hyperferritinemia ; Hereditary hypoferritinemia ; Iron metabolism ; Neurodegenerative disease
Publicado en:	Pharmaceuticals, Vol. 12 Núm. 1 (2019) , p. 17, ISSN 1424-8247

DOI: 10.3390/ph12010017
PMID: 30678075

15 p, 1.8 MB

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Documentos de investigación > Documentos de los grupos de investigación de la UAB > Centros y grupos de investigación (producción científica) > Ciencias de la salud y biociencias > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP) > Instituto de Investigación contra la Leucemia Josep Carreras
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