Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder specifically characterized by the degeneration of motor neurons. Frontotemporal dementia (FTD) represents a dementia syndrome marked by progressive atrophy of the frontal and temporal lobes. C9orf72 is currently recognized as the most prevalent genetic factor contributing to ALS/FTD pathogenesis. Therefore, investigating the biological functions of C9orf72 holds critical significance for elucidating the pathogenic mechanisms underlying ALS/FTD. In 2021, we published an article titled "C9orf72 Regulates Energy Homeostasis by Stabilizing Mitochondrial Complex I Assembly" in Cell Metabolism. This study revealed that the C9orf72 protein participates in regulating mitochondrial energy metabolism, thereby establishing the molecular basis for the metabolic dysregulation observed in patient brains.
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