Mitochondrial dysfunction in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome: prospect use of antioxidants and mitochondrial nutrients

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Pagano, Giovanni and Lyakhovich, Alex and Pallardó, Federico V. and Tiano, Luca and Zatterale, Adriana and Trifuoggi, Marco (2024) Mitochondrial dysfunction in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome: prospect use of antioxidants and mitochondrial nutrients. Molecular Biology Reports, 51 (1). ISSN 0301-4851 (Print) 1573-4978 (Online)

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Abstract

Fragile X syndrome (FXS) is a genetic disorder characterized by mutation in the FMR1 gene, leading to the absence or reduced levels of fragile X Messenger Ribonucleoprotein 1 (FMRP). This results in neurodevelopmental deficits, including autistic spectrum conditions. On the other hand, Fragile X-associated tremor/ataxia syndrome (FXTAS) is a distinct disorder caused by the premutation in the FMR1 gene. FXTAS is associated with elevated levels of FMR1 mRNA, leading to neurodegenerative manifestations such as tremors and ataxia. Mounting evidence suggests a link between both syndromes and mitochondrial dysfunction (MDF). In this minireview, we critically examine the intricate relationship between FXS, FXTAS, and MDF, focusing on potential therapeutic avenues to counteract or mitigate their adverse effects. Specifically, we explore the role of mitochondrial cofactors and antioxidants, with a particular emphasis on alpha-lipoic acid (ALA), carnitine (CARN) and Coenzyme Q10 (CoQ10). Findings from this review will contribute to a deeper understanding of these disorders and foster novel therapeutic strategies to enhance patient outcomes.
Item Type: Article
Uncontrolled Keywords: Alpha-lipoic acid; Carnitine; Coenzyme Q10; Fragile X syndrome (FXS;FXTAS); Mitochondrion
Divisions: Faculty of Engineering and Natural Sciences
Depositing User: Alex Lyakhovich
Date Deposited: 09 Jun 2024 22:13
Last Modified: 09 Jun 2024 22:13
URI: https://research.sabanciuniv.edu/id/eprint/49305

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