The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genes

Mol Genet Metab. 2000 Jul;70(3):238-40. doi: 10.1006/mgme.2000.3005.


The mutation T3308C results in a Met --> Thr change at the highly conserved amino acid position 1 of the mtDNA ND1 gene (M1T). To study its potential pathogenic effect we have carried out a combination of mitochondrial protein synthesis and Northern and Western analyses. Our data demonstrate that M1T mutation does not affect the efficiency of the synthesis of the ND1 polypeptide and suggest that any codon specifying methionine located close to the 5' end of mitochondrial mRNAs may be used as translational initiator.

MeSH terms

  • Blotting, Northern
  • Blotting, Western
  • Cells, Cultured
  • Codon, Initiator / genetics*
  • DNA, Mitochondrial / genetics*
  • Fibroblasts / enzymology
  • Humans
  • Mitochondria / enzymology
  • Mitochondria / genetics*
  • NADH Dehydrogenase / biosynthesis
  • NADH Dehydrogenase / genetics*
  • Oxidative Phosphorylation
  • Point Mutation*
  • Protein Biosynthesis*
  • Skin / cytology


  • Codon, Initiator
  • DNA, Mitochondrial
  • NADH Dehydrogenase