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Neurogenetics
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
Sonia Gandhi, Sarah Tabrizi, Nicholas Wood
Neuroferritinopathy is a rare condition caused by mutations in the ferritin light chain gene (FTL1) resulting in neurodegeneration with iron accumulation. It is an autosomal dominant condition that presents in adult life with progressive dystonia or chorea.
Degenerative Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James A. Mastrianni, Elizabeth A. Harris
NBIA:50 a heterogeneous group of genetic disorders characterized by brain iron accumulation and neuronal death. Subtypes may be recognized by pattern of iron deposition on T2* and fast spin echo MRI sequences: PKAN: Rare, sometimes familial, condition of progressive rigidity, bradykinesia, dystonia, dysarthria, and dementia in childhood, or occasionally adulthood.Epileptic seizures, chorea, cerebellar ataxia, muscle atrophy, and retinitis pigmentosa may also occur.Iron-containing pigment deposited in the substantia nigra and globus pallidus (‘eye of the tiger sign’) can be imaged by MRI (Figure 16.66).Neuroferritinopathy: more prominent chorea and dystonia; MRI demonstrates more involvement of dentate nuclei, globus pallidus, and putamen, along with confluent areas of hyperintensity.Aceruloplasminemia: occurs with ataxia, dystonia, and chorea, as well as retinal degeneration and diabetes mellitus; MRI demonstrates low intensity in the striatum, thalamus, and dentate nucleus.Infantile neuroaxonal dystrophy.
Recombinant ferritins for multimodal nanomedicine
Published in Journal of Enzyme Inhibition and Medicinal Chemistry, 2023
Yihao Li, Haoyu Gao, Eugenie Nepovimova, Qinghua Wu, Vojtech Adam, Kamil Kuca
Ferritins (Ftn) are a class of important iron storage proteins widely present in all organisms that use Ftn for maintaining iron homeostasis1. Ftns usually consist of a spherical cage of 24 identical or heterologous H-and L-subunits2. Of these, the H-subunit provides rapid detoxification of iron through its inherent ferroxidase activity and the L-subunit promotes iron nucleation, mineralisation, and long-term storage3. As a natural polymeric biomaterial, Ftn has the advantage of good biocompatibility, biodegradability, and a long plasma half-life4. Noteworthy, Ftn is an important disease biomarker. Serum Ftn is routinely used in clinical medicine as a surrogate indicator of iron storage in the body, where low levels indicate iron deficiency5. Also, an inflammation or infection can dramatically alter serum Ftn levels6. In the pancreas, Ftn deposits can impair cells function and induce diabetes. Moreover, it can also lead to hypogonadism and hyperpigmentation in the pituitary gland and skin, respectively7. There are some hereditary ferritinopathy and neuroferritinopathy associated with iron accumulation, such as amyotrophic lateral sclerosis8, restless legs syndrome9, and Alzheimer’s disease10. High levels of serum Ftn are a marker of poor prognosis in restless legs syndrome.
Hyperferritinemia with iron deposition in the basal ganglia and tremor as the initial manifestation of follicular lymphoma
Published in International Journal of Neuroscience, 2023
Hussein Algahtani, Ahmed Absi, Bader Shirah, Hatim Al-Maghraby, Hussam Algarni
Iron is an essential element for brain cells that is required for the transport of oxygen, energy generation, myelin synthesis, and production of neurotransmitters [1]. Disturbances in the homeostatic mechanisms of iron metabolism may cause iron accumulation with subsequent oxidative stress and cellular damage [2]. Neuroferritinopathy is an autosomal dominant basal ganglia disorder resulting from pathological iron deposition and ferritin inclusion in various brain regions. The pathogenic mutation affects the gene for ferritin light chain 1 (FTL1) in chromosome 19q13 [3]. Acquired neuroferritiopathy has never been described in the literature. In this article, we present a patient with hyperferritinemia, movement disorder, and interesting magnetic resonance imaging (MRI) caused by an underlying malignancy.
A deep dive into future therapies for microcytic anemias and clinical considerations
Published in Expert Review of Hematology, 2023
François Rodrigues, Tereza Coman, Guillemette Fouquet, Francine Côté, Geneviève Courtois, Thiago Trovati Maciel, Olivier Hermine
Homeostasis of cellular iron is modulated by post-transcriptional regulations of TfR1 and ferritin, the main intracellular iron storing protein. When levels of cytosolic iron decrease, aconitase is converted into iron-regulatory protein 1 (IRP1), while IRP2 iron-dependent degradation is inhibited. IRPs bind an iron-responsive element (IRE) in the 3’ untranslated region of TfR1 mRNA, increasing its stability and allowing the cell to import more transferrin. IRPs also bind the 5-UTR of ferritin mRNA, inhibiting ferritin synthesis [8]. IRPs are ubiquitously expressed in human tissues [9]. Mutations leading to constitutive IRP1 activation in humans trigger a paradoxical microcytic anemia because the mRNA of ALAS2, a key heme synthesis enzyme, contains an IRE allowing IRP1 to inhibit its translation [10]. Meanwhile, biallelic loss-of-function variants of IRP2 have recently been described in a patient presenting with microcytic anemia and severe neurodegeneration resembling neuroferritinopathy, where excess intracellular ferritin leads to iron accumulation and reduced availability for metabolic purposes [11].