Role of Oxidative Damage in Neurodegeneration with Brain Iron Accumulation Disorders

2017 ◽  
pp. 117-126
Keyword(s):  
Oxidative Damage ◽  
Iron Accumulation ◽  
Brain Iron

Role of 18F-FDG PET imaging in paediatric primary dystonia and dystonia arising from neurodegeneration with brain iron accumulation

2015 ◽  
Vol 36 (5) ◽  
pp. 469-476 ◽  
Author(s):  
Teresa A. Szyszko ◽  
Joel T. Dunn ◽  
Michael J. O’Doherty ◽  
Laurence Reed ◽  
Jean-Pierre Lin
Keyword(s):  
Pet Imaging ◽  
Fdg Pet ◽  
Iron Accumulation ◽  
Brain Iron ◽  
Primary Dystonia ◽  
18F Fdg

scholarly journals Iron and Neurodegeneration in Multiple Sclerosis

2011 ◽  
Vol 2011 ◽  
pp. 1-6 ◽  
Author(s):  
Michael Khalil ◽  
Charlotte Teunissen ◽  
Christian Langkammer
Keyword(s):  
Multiple Sclerosis ◽  
Iron Homeostasis ◽  
Venous Insufficiency ◽  
Quantitative Mri ◽  
Iron Accumulation ◽  
Brain Iron ◽  
Etiologic Role ◽  
Quantitative Manner ◽  
Related Proteins

Increased iron deposition might be implicated in multiple sclerosis (MS). Recent development of MRI enabled to determine brain iron levels in a quantitative manner, which has put more interest on studying the role of iron in MS. Evidence for abnormal iron homeostasis in MS comes also from analyses of iron and iron-related proteins in CSF and blood and postmortem MS brain sections. However, it is not yet clear if iron accumulation is implicated in MS pathology or merely reflects an epiphenomenon. Further interest has been generated by the idea of chronic cerebrospinal venous insufficiency that might be associated with brain iron accumulation due to a reduction in venous outflow, but its existence and etiologic role in MS are currently controversially debated. In future studies, combined approaches applying quantitative MRI together with CSF and serum analyses of iron and iron-related proteins in a clinical followup setting might help to elucidate the implication of iron accumulation in MS.

Role of Brain Iron Accumulation in Cognitive Dysfunction: Evidence from Animal Models and Human Studies

2013 ◽  
Vol 34 (4) ◽  
pp. 797-812 ◽  
Author(s):  
Nadja Schröder ◽  
Luciana Silva Figueiredo ◽  
Maria Noêmia Martins de Lima
Keyword(s):  
Animal Models ◽  
Cognitive Dysfunction ◽  
Human Studies ◽  
Iron Accumulation ◽  
Brain Iron

Neurodegeneration with brain iron accumulation type 4 by mutation in the C19orf12 gene: first time found in adolescent of Russian origin

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
E Giagkou ◽  
S Lutz ◽  
U Schara ◽  
K Becker ◽  
C Möller-Hartmann
Keyword(s):  
Iron Accumulation ◽  
Brain Iron ◽  
First Time

Psychotic Disorder in Neurodegeneration with Brain Iron Accumulation

2016 ◽  
Vol 10 (3) ◽  
pp. 178-180
Author(s):  
Menekse Sila Yazar ◽  
Nurhan Fistikci ◽  
Ozlem Devrim Balaban ◽  
Nezih Eradamlar ◽  
Latif Alpkan
Keyword(s):  
Psychotic Disorder ◽  
Iron Accumulation ◽  
Brain Iron

The Role of Reactive Oxygen Species in Tumor Treatment and its Impact on Bone Marrow Hematopoiesis

2020 ◽  
Vol 21 (5) ◽  
pp. 477-498
Author(s):  
Yongfeng Chen ◽  
Xingjing Luo ◽  
Zhenyou Zou ◽  
Yong Liang
Keyword(s):  
Reactive Oxygen Species ◽  
Bone Marrow ◽  
Oxidative Damage ◽  
Tumor Cells ◽  
Reactive Oxygen ◽  
Oxygen Species ◽  
Tumor Treatment ◽  
Normal Cells ◽  
Treatment And Prevention

Reactive oxygen species (ROS), an important molecule inducing oxidative stress in organisms, play a key role in tumorigenesis, tumor progression and recurrence. Recent findings on ROS have shown that ROS can be used to treat cancer as they accelerate the death of tumor cells. At present, pro-oxidant drugs that are intended to increase ROS levels of the tumor cells have been widely used in the clinic. However, ROS are a double-edged sword in the treatment of tumors. High levels of ROS induce not only the death of tumor cells but also oxidative damage to normal cells, especially bone marrow hemopoietic cells, which leads to bone marrow suppression and (or) other side effects, weak efficacy of tumor treatment and even threatening patients’ life. How to enhance the killing effect of ROS on tumor cells while avoiding oxidative damage to the normal cells has become an urgent issue. This study is a review of the latest progress in the role of ROS-mediated programmed death in tumor treatment and prevention and treatment of oxidative damage in bone marrow induced by ROS.

scholarly journals Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation

Neurogenetics ◽  
2021 ◽  
Author(s):  
Chiara Cavestro ◽  
Celeste Panteghini ◽  
Chiara Reale ◽  
Alessia Nasca ◽  
Silvia Fenu ◽  
...  
Keyword(s):  
Early Onset ◽  
Cerebellar Atrophy ◽  
Iron Accumulation ◽  
Brain Iron ◽  
Causative Gene ◽  
Coding Regions ◽  
Aberrant Transcript ◽  
Pathogenic Variants ◽  
Intronic Mutation ◽  
Mrna Analysis

AbstractPLA2G6 is the causative gene for a group of autosomal recessive neurodegenerative disorders known as PLA2G6-associated neurodegeneration (PLAN). We present a case with early-onset parkinsonism, ataxia, cognitive decline, cerebellar atrophy, and brain iron accumulation. Sequencing of PLA2G6 coding regions identified only a heterozygous nonsense variant, but mRNA analysis revealed the presence of an aberrant transcript isoform due to a novel deep intronic variant (c.2035-274G > A) leading to activation of an intronic pseudo-exon. These results expand the genotypic spectrum of PLAN, showing the paramount importance of detecting possible pathogenic variants in deep intronic regions in undiagnosed patients.

scholarly journals Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation

2021 ◽  
Vol 22 (15) ◽  
pp. 8247
Author(s):  
Cheng-Tsung Hsiao ◽  
Thomas F. Tropea ◽  
Ssu-Ju Fu ◽  
Tanya M. Bardakjian ◽  
Pedro Gonzalez-Alegre ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Iron Accumulation ◽  
Molecular Spectra ◽  
Loss Of Function ◽  
Brain Iron ◽  
Gain Of Function ◽  
Progressive Cerebellar Ataxia ◽  
Voltage Dependent ◽  
Window Current

Loss-of-function mutations in the KV4.3 channel-encoding KCND3 gene are linked to neurodegenerative cerebellar ataxia. Patients suffering from neurodegeneration associated with iron deposition may also present with cerebellar ataxia. The mechanism underlying brain iron accumulation remains unclear. Here, we aim to ascertain the potential pathogenic role of KCND3 variant in iron accumulation-related cerebellar ataxia. We presented a patient with slowly progressive cerebellar ataxia, parkinsonism, cognitive impairment, and iron accumulation in the basal ganglia and the cerebellum. Whole exome sequencing analyses identified in the patient a heterozygous KCND3 c.1256G>A (p.R419H) variant predicted to be disease-causing by multiple bioinformatic analyses. In vitro biochemical and immunofluorescence examinations revealed that, compared to the human KV4.3 wild-type channel, the p.R419H variant exhibited normal protein abundance and subcellular localization pattern. Electrophysiological investigation, however, demonstrated that the KV4.3 p.R419H variant was associated with a dominant increase in potassium current amplitudes, as well as notable changes in voltage-dependent gating properties leading to enhanced potassium window current. These observations indicate that, in direct contrast with the loss-of-function KCND3 mutations previously reported in cerebellar ataxia patients, we identified a rare gain-of-function KCND3 variant that may expand the clinical and molecular spectra of neurodegenerative cerebellar disorders associated with brain iron accumulation.

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