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Bioenergetic markers in skin fibroblasts of sporadic amyotrophic lateral sclerosis and progressive lateral sclerosis patients
Author(s) -
Kirk Kathryne,
Gennings Chris,
Hupf Jonathan C.,
Tadesse Saba,
D'Aurelio Marilena,
Kawamata Hibiki,
Valsecchi Federica,
Mitsumoto Hiroshi,
Manfredi Giovanni
Publication year - 2014
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.24244
Subject(s) - amyotrophic lateral sclerosis , pathogenesis , multiple sclerosis , bioenergetics , disease , medicine , mitochondrion , pathology , motor neuron , biology , immunology , microbiology and biotechnology
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. Ann Neurol 2014;76:620–624