Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes.

Autor:	Magliocca V; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Department of Science, University 'Roma Tre', Rome, Italy., Lanciotti A; Department of Neuroscience, Istituto Superiore di Sanità, Rome, Italy., Ambrosini E; Department of Neuroscience, Istituto Superiore di Sanità, Rome, Italy., Travaglini L; Unit of Translational Cytogenetic Research, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., D'Ezio V; Department of Science, University 'Roma Tre', Rome, Italy., D'Oria V; Confocal Microscopy Core Facility, Research Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Petrini S; Confocal Microscopy Core Facility, Research Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Catteruccia M; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Pediatrics and Clinical Genetics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Massey K; Cure RTD Foundation, Calgary, AB, Canada., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Pediatrics and Clinical Genetics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Persichini T; Department of Science, University 'Roma Tre', Rome, Italy., Compagnucci C; Department of Science, University 'Roma Tre', Rome, Italy.
Jazyk:	angličtina
Zdroj:	Frontiers in cellular neuroscience [Front Cell Neurosci] 2024 Jul 24; Vol. 18, pp. 1440555. Date of Electronic Publication: 2024 Jul 24 (Print Publication: 2024).
DOI:	10.3389/fncel.2024.1440555
Abstrakt:	Introduction: Riboflavin transporter deficiency type 2 (RTD2) is a rare neurodegenerative autosomal recessive disease caused by mutations in the SLC52A2 gene encoding the riboflavin transporters, RFVT2. Riboflavin (Rf) is the precursor of FAD (flavin adenine dinucleotide) and FMN (flavin mononucleotide), which are involved in different redox reactions, including the energetic metabolism processes occurring in mitochondria. To date, human induced pluripotent stem cells (iPSCs) have given the opportunity to characterize RTD2 motoneurons, which reflect the most affected cell type. Previous works have demonstrated mitochondrial and peroxisomal altered energy metabolism as well as cytoskeletal derangement in RTD2 iPSCs and iPSC-derived motoneurons. So far, no attention has been dedicated to astrocytes. Results and Discussion: Here, we demonstrate that in vitro differentiation of astrocytes, which guarantee trophic and metabolic support to neurons, from RTD2 iPSCs is not compromised. These cells do not exhibit evident morphological differences nor significant changes in the survival rate when compared to astrocytes derived from iPSCs of healthy individuals. These findings indicate that differently from what had previously been documented for neurons, RTD2 does not compromise the morpho-functional features of astrocytes. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision. (Copyright © 2024 Magliocca, Lanciotti, Ambrosini, Travaglini, D’Ezio, D’Oria, Petrini, Catteruccia, Massey, Tartaglia, Bertini, Persichini and Compagnucci.)
Databáze:	MEDLINE
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