Mitochondrial and energy metabolism dysfunctions are hallmarks of TDP-43^G376D fibroblasts from members of an Amyotrophic Lateral Sclerosis family.

ABSTRACT: Amyotrophic Lateral Sclerosis (ALS) is an incurable neurodegenerative disease, causing degeneration of motor neurons, paralysis, and death. About 5-10% of cases are associated with gene mutations inherited from a family member (fALS). Among them, mutations in the transactive-response (TAR)-DNA-binding protein (TARDBP), which encodes for the TAR DNA binding protein 43 (TDP-43) are responsible for 4-5% of fALS but the molecular mechanisms that initiate and sustain the neurodegenerative process are largely unknown. Metabolic impairments might be involved in the pathogenesis of ALS and are currently under investigation. In order to correlate biochemical and metabolic alterations with disease progression, here, we established the metabolic fingerprint of dermal fibroblasts derived from symptoma

SUBMITTER: Perciballi E 

PROVIDER: S-EPMC11986161 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature