Investigation of mitochondrial phenotypes in motor neurons derived by direct conversion of fibroblasts from familial ALS subjects.

ABSTRACT: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease of motor neurons, leading to fatal muscle paralysis. Familial forms of ALS (fALS) account for approximately 10% of cases and are associated with mutations in numerous genes. Alterations of mitochondrial functions have been proposed to contribute to disease pathogenesis. Here, we employed a direct conversion (DC) technique to generate induced motor neurons (iMN) from skin fibroblasts to investigate mitochondrial phenotypes in a patient-derived disease relevant cell culture system. We converted 7 control fibroblast lines and 17 lines harboring the following fALS mutations, SOD1^A4V, TDP-43^N352S, FUS^R521G, CHCHD10^R15L, and C9orf72 repeat expansion. We developed new machine

SUBMITTER: Woo E 

PROVIDER: S-EPMC11870414 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature