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  • Title: Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene.
    Author: Petruzzella V, Papa S.
    Journal: Gene; 2002 Mar 06; 286(1):149-54. PubMed ID: 11943471.
    Abstract:
    Among the mitochondrial disorders, complex I deficiencies are encountered frequently. Although some complex I deficiencies have been associated with mitochondrial DNA mutations, in the majority of the complex I-deficient patients mutations of nuclear genes are expected. This review attempts to summarize genetic defects affecting nuclear encoded subunits of complex I reported to date focusing on those found in the NDUFS4 gene. NDUFS4 product is 18 kDa protein which appears to have a dual role in complex I, at least: cAMP-dependent phosphorylation activates the complex; non-sense mutation of NDUFS4 prevents normal assembly of a functional complex in the inner mitochondrial membrane.
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