Katie Roome

Mar 6, 2025 | biorxiv.org | Sarah Granger |Katie Roome |Scott Allen |Laura Ferraiuolo

AbstractIntroduction: ALS is a neurodegenerative disorder characterised by progressive upper and lower motor neuron loss. A GGGGCC hexanucleotide repeat expansion (HRE) in the C9orf72 gene is the most common mutation found in populations of European descent. Mitochondrial dysfunction has been observed in C9orf72-ALS patients and models of the disease, however reports on mitochondrial clearance via mitophagy in C9orf72-ALS are limited.