Bioenergetic markers in skin fibroblasts of sporadic amyotrophic lateral sclerosis and progressive lateral sclerosis patients.

Abstract

Energy metabolism could influence amyotrophic lateral sclerosis (ALS) and progressive lateral sclerosis (PLS) pathogenesis and the response to therapy. We developed a novel assay to simultaneously assess mitochondrial content and membrane potential in patients' skin fibroblasts. In ALS and PLS fibroblasts, membrane potential was increased and mitochondrial content decreased, relative to healthy controls. In ALS higher mitochondrial membrane potential correlated with age at diagnosis, and in PLS it correlated with disease severity. These unprecedented findings in ALS and PLS fibroblasts could shed new light onto disease pathogenesis and help in developing biomarkers to predict disease evolution and the individual response to therapy in motor neuron diseases.

• Authors: Kathryne Kirk, Chris Gennings, Jonathan C Hupf, Saba Tadesse, Marilena D'Aurelio, Hibiki Kawamata, Federica Valsecchi, Hiroshi Mitsumoto, ALS/PLS COSMOS Study Groups, Giovanni Manfredi
• Journal: Annals of neurology (Ann Neurol) Vol. 76 Issue 4 Pg. 620-4 (Oct 2014) ISSN: 1531-8249 [Electronic] United States
• PMID: 25090982 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
• Copyright: © 2014 American Neurological Association.

Chemical References

• Aldehydes
• Biomarkers
• Rhodamines
• mitotracker green FM
• tetramethylrhodamine methyl ester

Topics

• Adult
• Aged
• Aldehydes
• Amyotrophic Lateral Sclerosis (pathology)
• Biomarkers
• Energy Metabolism (physiology)
• Fibroblasts (pathology)
• Humans
• Male
• Membrane Potential, Mitochondrial (physiology)
• Middle Aged
• Motor Neuron Disease (pathology)
• Rhodamines (metabolism)
• Skin (pathology)