Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene
V Petruzzella, S Papa - Gene, 2002 - Elsevier
V Petruzzella, S Papa
Gene, 2002•ElsevierAmong 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 …
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 …
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.
Elsevier
