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Pharmaceuticals 2019, 12(1), 17; https://doi.org/10.3390/ph12010017

L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases

1
Whole Genix SL., 08021 Barcelona, Spain
2
Iron Metabolism: Regulation and Diseases Group, Josep Carreras Leukemia Research Institute (IJC), Campus Can Ruti, Badalona, 08916 Barcelona, Spain
3
Experimental Sciences and Technology Department, Universitat de Vic-Universitat Central de Catalunya, 08500 Vic, Spain
4
BloodGenetics SL, Esplugues de Llobregat, 08950 Barcelona, Spain
5
Pediatric OncoHematology Service, Clinic University Hospital Virgen de la Arrixaca, Instituto Murciano de Investigación Biosanitaria (IMIB), 30120 Murcia, Spain
6
Hematology Service, University Hospital Germans Trias i Pujol (HGTiP), Institut Català d’Oncologia (ICO), Badalona, 08916 Barcelona, Spain
7
Biomedical Engineering Department, University of Texas at Austin, Austin, TX 78712, USA
8
Program of Predictive and Personalised Medicine of Cancer (PMPPC), Institut d’Investigació Germans Trias i Pujol (IGTP), Campus Can Ruti, Badalona, 08916 Barcelona, Spain
9
Iron Metabolism: Regulation and Diseases Group, Faculty of Medicine and Health Sciences, Universitat Internacional de Catalunya (UIC), 08195 Barcelona, Spain
*
Author to whom correspondence should be addressed.
Received: 23 December 2018 / Revised: 18 January 2019 / Accepted: 19 January 2019 / Published: 23 January 2019
(This article belongs to the Special Issue Iron as Therapeutic Targets in Human Diseases)
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Abstract

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. View Full-Text
Keywords: ferritin; hereditary hyperferritinemia; hereditary hypoferritinemia; iron metabolism; cataracts syndrome; neurodegenerative disease ferritin; hereditary hyperferritinemia; hereditary hypoferritinemia; iron metabolism; cataracts syndrome; neurodegenerative disease
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Cadenas, B.; Fita-Torró, J.; Bermúdez-Cortés, M.; Hernandez-Rodriguez, I.; Fuster, J.L.; Llinares, M.E.; Galera, A.M.; Romero, J.L.; Pérez-Montero, S.; Tornador, C.; Sanchez, M. L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases. Pharmaceuticals 2019, 12, 17.

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