title: 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.affiliation: Brain and Mind Research Institute, Weill Medical College of Cornell University, New York, NY.
authors.forename: Kathryne
authors.initials: K
authors.lastname: Kirk
authors.forename: Chris
authors.initials: C
authors.lastname: Gennings
authors.forename: Jonathan C
authors.initials: JC
authors.lastname: Hupf
authors.forename: Saba
authors.initials: S
authors.lastname: Tadesse
authors.forename: Marilena
authors.initials: M
authors.lastname: D'Aurelio
authors.forename: Hibiki
authors.initials: H
authors.lastname: Kawamata
authors.forename: Federica
authors.initials: F
authors.lastname: Valsecchi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mitsumoto
authors.forename: Giovanni
authors.initials: G
authors.lastname: Manfredi
mesh_terms: D000328:Adult; D000368:Aged; D000447:Aldehydes; D000690:Amyotrophic Lateral Sclerosis / Q000473:pathology*; D015415:Biomarkers; D004734:Energy Metabolism / Q000502:physiology*; D005347:Fibroblasts / Q000473:pathology*; D006801:Humans; D008297:Male; D053078:Membrane Potential, Mitochondrial / Q000502:physiology; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000473:pathology*; D012235:Rhodamines / Q000378:metabolism; D012867:Skin / Q000473:pathology*
chemical_list: D000447:Aldehydes; D015415:Biomarkers; D012235:Rhodamines; C111472:mitotracker green FM; C401833:tetramethylrhodamine methyl ester
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