Neurodegeneración causada por mutaciones en el gen de la cadena liviana de ferritina

Translated title of the contribution: Neurodegeneration caused by mutations in the ferritin light chain gene

Research output: Contribution to journalArticle


Nucleotide duplications in exon 4 of the ferritin light chain (FTL) gene cause the autosomal dominant neurodegenerative disease neuroferritinopathy or hereditary ferritinopathy (HF). The clinical phenotype of HF is characterized by a movement disorder, behavioral abnormalities and cognitive impairment. Magnetic resonance imaging shows abnormal signals in the globus pallidus and putamen, as well as cavitation of the putamen. Mild cerebral and cerebellar atrophy may be observed. Neuropathologically, HF is characterized by a severe neuronal loss in the basal ganglia, atrophy of cerebellum and cerebral cortex, abnormal iron accumulation, and the presence of ferritin inclusion bodies (IBs) in neurons and glia. Ferritin IBs are also found in cells of other organ systems, including the skin, kidneys, liver, and muscle. Serum ferritin levels may be normal or abnormally low in the presence of normal levels of iron. Thus far, all mutations in the FTL gene generate FTL polypeptides with abnormal C-termini that alter iron incorporation and promote iron-mediated aggregation of ferritin. Transgenic expression of mutant FTL in mice recapitulate several features of the disease, including formation of ferritin IBs in neurons and glia, dysregulation of iron homeostasis and oxidative damage of proteins in the brain, similarly to what has been observed in individuals with HF.

Translated title of the contributionNeurodegeneration caused by mutations in the ferritin light chain gene
Original languageSpanish
Pages (from-to)113-120
Number of pages8
JournalActa Bioquimica Clinica Latinoamericana
Issue number1
StatePublished - Mar 1 2013


  • Animal models
  • Dementia
  • Ferritina
  • Inclusion bodies
  • Iron
  • Neurodegeneration
  • Oxidative stress

ASJC Scopus subject areas

  • Clinical Biochemistry

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