Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

Ann Neurol. 2001 Feb;49(2):195-201. doi: 10.1002/1531-8249(20010201)49:2<195::aid-ana39>;2-m.


Human complex I is built up and regulated by genes encoded by the mitochondrial DNA (mtDNA) as well as the nuclear DNA (nDNA). In recent years, attention mainly focused on the relation between complex I deficiency and mtDNA mutations. However, a high percentage of consanguinity and an autosomal-recessive mode of inheritance observed within our patient group as well as the absence of common mtDNA mutations make a nuclear genetic cause likely. The NDUFS2 protein is part of complex I of many pro- and eukaryotes. The nuclear gene coding for this protein is therefore an important candidate for mutational detection studies in enzymatic complex I deficient patients. Screening of patient NDUFS2 cDNA by reverse transcriptase-polymerase chain reaction (RT-PCR) in combination with direct DNA sequencing revealed three missense mutations resulting in the substitution of conserved amino acids in three families.

MeSH terms

  • Amino Acid Sequence
  • Cardiomyopathies / genetics*
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex I
  • Humans
  • Infant
  • Infant, Newborn
  • Mitochondrial Encephalomyopathies / genetics*
  • Molecular Sequence Data
  • Mutation / genetics*
  • NADH, NADPH Oxidoreductases / genetics*
  • Phenotype
  • Polymorphism, Restriction Fragment Length


  • DNA, Mitochondrial
  • NADH, NADPH Oxidoreductases
  • Electron Transport Complex I

Associated data

  • GENBANK/O75306
  • GENBANK/P17694
  • GENBANK/P22142
  • GENBANK/P29916
  • GENBANK/P33600
  • GENBANK/S57332
  • RefSeq/NP_004541