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2022-06-08

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cc-by (c) Alvarez-Mora, Maria Isabel et al., 2022
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/191013

Bioenergetic and Autophagic Characterization of Skin Fibroblasts from C9orf72 Patients.

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https://doi.org/10.3390/antiox11061129

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The objective of this study is to describe the alterations occurring during the neurodegenerative process in skin fibroblast cultures from C9orf72 patients. We characterized the oxidative stress, autophagy flux, small ubiquitin-related protein SUMO2/3 levels as well as the mitochondrial function in skin fibroblast cultures from C9orf72 patients. All metabolic and bioenergetic findings were further correlated with gene expression data obtained from RNA sequencing analysis. Fibroblasts from C9orf72 patients showed a 30% reduced expression of C9orf72, ~3-fold increased levels of oxidative stress and impaired mitochondrial function obtained by measuring the enzymatic activities of mitochondrial respiratory chain complexes, specifically of complex III activity. Furthermore, the results also reveal that C9orf72 patients showed an accumulation of p62 protein levels, suggesting the alteration of the autophagy process, and significantly higher protein levels of SUMO2/3 (p = 0.03). Our results provide new data reinforcing that C9orf72 cells suffer from elevated oxidative damage to biomolecules and organelles and from increased protein loads, leading to insufficient autophagy and an increase in SUMOylation processes.

Matèries

Pell, Fibroblasts, Expressió gènica, Bioenergètica, Autofàgia, Cèl·lules, Estrès oxidatiu

Matèries (anglès)

Skin, Fibroblasts, Gene expression, Bioenergetics, Autophagy, Cells, Oxidative stress

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Articles publicats en revistes (Medicina)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

Citació

ALVAREZ MORA, Maria isabel, GARRABOU TORNOS, Glòria, BARCOS RODRÍGUEZ, Tamara, GARCIA-GARCIA, Francisco, GRILLO RISCO, Ruben, PERUGA, Emma, GORT I MAS, Laura, BORREGO ÉCIJA, Sergi, SANCHEZ-VALLE, Raquel, CANTÓ SANTOS, Judith, NAVARRO NAVARRO, Paula, RODRIGUEZ REVENGA, Laia. Bioenergetic and Autophagic Characterization of Skin Fibroblasts from C9orf72 Patients.. _Antioxidants_. 2022. Vol. 11, núm. 6, pàgs. 1129. [consulta: 11 de abril de 2026]. ISSN: 2076-3921. [Disponible a: https://hdl.handle.net/2445/191013]

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