NADH-ubiquinone oxidoreductase chain 1

MT-ND1 encodes NADH-ubiquinone oxidoreductase chain 1, a core structural and catalytic subunit of the mitochondrial respiratory chain Complex I. It facilitates electron transfer from NADH to ubiquinone, essential for Complex I assembly and activity (UniProt: P03886).

MT-ND1 is a mitochondrial-encoded gene whose mutations are associated with several mitochondrial diseases including Leber hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), and Alzheimer disease mitochondrial (AD-MT) (UniProt: P03886). The gene is also implicated in type 2 diabetes mellitus susceptibility.

MT-ND1 is down-regulated in Alzheimer's disease brain tissue. Quantitative proteomics of post-mortem AD brain versus age-matched controls detected a mean log2-fold change of −0.45 across subcellular fractions (Chaparral AD proteomics). This reduction in Complex I abundance may contribute to impaired mitochondrial respiration and energy metabolism dysfunction observed in AD neurodegeneration.