NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial

NDUFV1 is the flavoprotein core subunit of mitochondrial respiratory chain NADH dehydrogenase (Complex I), catalyzing electron transfer from NADH to ubiquinone via flavin mononucleotide and iron-sulfur clusters (UniProt: P49821). This enzyme is essential for oxidative phosphorylation and cellular energy metabolism.

NDUFV1 is expressed in mitochondrial membranes throughout tissues requiring high energy demand. Pathogenic mutations in NDUFV1 cause mitochondrial complex I deficiency (nuclear type 4, MC1DN4), a rare autosomal recessive disorder with variable presentation ranging from neonatal lethality to adult-onset neurodegeneration, including Leigh syndrome and Parkinson disease phenotypes (UniProt: P49821).

In Alzheimer's disease, NDUFV1 is upregulated in post-mortem AD brain tissue compared to age-matched controls, with a mean log2 fold-change of +0.44 across subcellular fractions (Chaparral AD proteomics). This elevation may reflect compensatory responses to impaired mitochondrial respiration or energy deficits characteristic of AD pathology, linking complex I dysfunction to neurodegeneration.