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Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency
Joint Authors
Moreno, Sandra
Colasuonno, Fiorella
Niceforo, Alessia
Marioli, Chiara
Fracassi, Anna
Stregapede, Fabrizia
Massey, Keith
Tartaglia, Marco
Bertini, Enrico
Compagnucci, Claudia
Source
Oxidative Medicine and Cellular Longevity
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-19, 19 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-08-13
Country of Publication
Egypt
No. of Pages
19
Main Subjects
Abstract EN
Riboflavin transporter deficiency (RTD) is a childhood-onset neurodegenerative disorder characterized by progressive pontobulbar palsy, sensory and motor neuron degeneration, sensorineural hearing loss, and optic atrophy.
As riboflavin (RF) is the precursor of FAD and FMN, we hypothesize that both mitochondrial and peroxisomal energy metabolism pathways involving flavoproteins could be directly affected in RTD, thus impacting cellular redox status.
In the present work, we used induced pluripotent stem cells (iPSCs) from RTD patients to investigate morphofunctional features, focusing on mitochondrial and peroxisomal compartments.
Using this model, we document the following RTD-associated alterations: (i) abnormal colony-forming ability and loss of cell-cell contacts, revealed by light, electron, and confocal microscopy, using tight junction marker ZO-1; (ii) mitochondrial ultrastructural abnormalities, involving shape, number, and intracellular distribution of the organelles, as assessed by focused ion beam/scanning electron microscopy (FIB/SEM); (iii) redox imbalance, with high levels of superoxide anion, as assessed by MitoSOX assay accompanied by abnormal mitochondrial polarization state, evaluated by JC-1 staining; (iv) altered immunofluorescence expression of antioxidant systems, namely, glutathione, superoxide dismutase 1 and 2, and catalase, as assessed by quantitatively evaluated confocal microscopy; and (v) peroxisomal downregulation, as demonstrated by levels and distribution of fatty acyl β-oxidation enzymes.
RF supplementation results in amelioration of cell phenotype and rescue of redox status, which was associated to improved ultrastructural features of mitochondria, thus strongly supporting patient treatment with RF, to restore mitochondrial- and peroxisomal-related aspects of energy dysmetabolism and oxidative stress in RTD syndrome.
American Psychological Association (APA)
Colasuonno, Fiorella& Niceforo, Alessia& Marioli, Chiara& Fracassi, Anna& Stregapede, Fabrizia& Massey, Keith…[et al.]. 2020. Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency. Oxidative Medicine and Cellular Longevity،Vol. 2020, no. 2020, pp.1-19.
https://search.emarefa.net/detail/BIM-1205215
Modern Language Association (MLA)
Colasuonno, Fiorella…[et al.]. Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency. Oxidative Medicine and Cellular Longevity No. 2020 (2020), pp.1-19.
https://search.emarefa.net/detail/BIM-1205215
American Medical Association (AMA)
Colasuonno, Fiorella& Niceforo, Alessia& Marioli, Chiara& Fracassi, Anna& Stregapede, Fabrizia& Massey, Keith…[et al.]. Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency. Oxidative Medicine and Cellular Longevity. 2020. Vol. 2020, no. 2020, pp.1-19.
https://search.emarefa.net/detail/BIM-1205215
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1205215