Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene

Gene. 2002 Mar 6;286(1):149-54. doi: 10.1016/s0378-1119(01)00810-1.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Cell Nucleus / genetics*
  • Electron Transport Complex I
  • Humans
  • Mitochondria / enzymology*
  • Molecular Sequence Data
  • Mutation
  • NADH Dehydrogenase
  • NADH, NADPH Oxidoreductases / deficiency
  • NADH, NADPH Oxidoreductases / genetics*
  • Polymorphism, Single Nucleotide
  • Protein Subunits

Substances

  • Protein Subunits
  • NADH, NADPH Oxidoreductases
  • NADH Dehydrogenase
  • Electron Transport Complex I
  • NDUFS4 protein, human