NDUFS7 encodes a core subunit of mitochondrial respiratory chain Complex I (NADH dehydrogenase) that is essential for catalytic activity and electron transfer from NADH to ubiquinone 1. This protein plays a critical role in oxidative phosphorylation and ATP synthesis within the mitochondrial inner membrane. NDUFS7 deficiency leads to Complex I assembly defects and mitochondrial dysfunction, manifesting in various neurological disorders. Pathogenic variants in NDUFS7 cause autosomal recessive mitochondrial disorders including Leigh syndrome, characterized by early basal ganglia and midbrain involvement with progressive neuroimaging findings 2. The gene is also associated with inherited optic neuropathies, including autosomal recessive Leber hereditary optic neuropathy (arLHON), where missense variants show spatial segregation patterns distinguishing between Leigh syndrome and isolated optic atrophy phenotypes 3. Recent studies identify NDUFS7 as a potential biomarker for Alzheimer's disease, with reduced protein levels observed in AD mouse models alongside decreased mitochondrial function 4. Additionally, NDUFS7 has emerged as a potential therapeutic target in psychiatric disorders, particularly bipolar disorder and schizophrenia, through its role in energy metabolism pathways 5. Cellular studies demonstrate that NDUFS7 deficiency increases oxidative stress and cell death, which can be partially mitigated by antioxidant treatments 6.