NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial

NDUFS7 (NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial) is a core subunit of mitochondrial Complex I that catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (UniProt: O75251). The protein is essential for Complex I catalytic activity and oxidative phosphorylation.

NDUFS7 is a mitochondrial membrane protein involved in cellular energy metabolism. Loss-of-function mutations in NDUFS7 cause mitochondrial complex I deficiency, nuclear type 3 (MC1DN3; MIM 618224), a rare autosomal recessive disorder characterized by defective oxidative phosphorylation with variable clinical presentations ranging from lethal neonatal disease to adult-onset neurodegeneration, including Leigh syndrome and Parkinson disease phenotypes (UniProt: O75251).

In Alzheimer's Disease, NDUFS7 is significantly upregulated in post-mortem AD brain tissue compared to age-matched controls (mean log2FC = 0.984; Chaparral AD proteomics). This elevation was detected in one of the analyzed subcellular fractions from TMT-labeled quantitative proteomics. The upregulation may reflect compensatory mitochondrial stress responses or altered energy metabolism in AD pathology.