Bioenergetic and Autophagic Characterization of Skin Fibroblasts from C9orf72 Patients.

ABSTRACT: 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,

SUBMITTER: Alvarez-Mora MI 

PROVIDER: S-EPMC9219955 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature