The human complex I NDUFS4 subunit: from gene structure to function and pathology.

Complex I is the first and largest enzyme of the oxidative phosphorylation system. It consists of at least 43 subunits. Recent studies have shown that the NDUFS4 subunit of complex I contributes to the activation of the complex through cAMP dependent phosphorylation of a conserved site (RVS) located at the C-terminal region of this protein. This report focuses on the NDUFS4 subunit. Summarized is the current knowledge of this subunit, from gene structure to function and pathology.

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.

A comparison of the clinical presentation, disease course and results of laboratory and imaging studies of all patients so far published with a NDUFS4 mutation are presented. This reveals marked clinical heterogeneity, even in patients with the same genotype.