Alvarez-Mora 2016 Mol Neurobiol
Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, Guitart-Mampel M, Garrabou G, Milร M (2016) Impaired mitochondrial function and dynamics in the pathogenesis of FXTAS. Mol Neurobiol 54:6896-902. |
Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, Guitart-Mampel M, Garrabou G, Mila M (2016) Mol Neurobiol
Abstract: Mitochondrial involvement plays an important role in neurodegenerative diseases. At least one-third of adult carriers of a FMR1 premutation (55-200 CGG repeats) are at risk of presenting an adult-onset neurodegenerative disorder known as fragile X-associated tremor/ataxia syndrome (FXTAS). In an attempt to provide new insights into the mechanisms involved in the pathogenesis of FXTAS, we characterized mitochondrial function and dynamics by the assessment of oxidative respiratory chain function, mitochondrial content, oxidative stress levels, and mitochondrial network complexity. Regarding mitochondrial function, we found that mitochondrial respiratory capacity is compromised in skin fibroblasts whereas in blood, no differences were observed between the FXTAS and control groups. Furthermore, fibroblasts from FXTAS patients presented altered mitochondrial architecture, with more circular and less interconnected mitochondria being observed. Mitochondrial function and dynamics deregulation and characteristic of neurological disorders are present in FXTAS patients. These features might be limiting temporal and spatial bioenergetics cells supply and thus contributing to disease pathogenesis. โข Keywords: FXTAS, Mitochondrial dynamics, Mitochondrial dysfunction, Oxygen uptake, ROS production โข Bioblast editor: Plangger M โข O2k-Network Lab: ES Barcelona Moren C
Labels: MiParea: Respiration
Pathology: Neurodegenerative
Organism: Human Tissue;cell: Fibroblast Preparation: Intact cells
Coupling state: ROUTINE
Pathway: N, S, NS
HRR: Oxygraph-2k
Labels, 2018-10