The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genes.
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.
Fernández-Moreno
M A
MA
Departamento de Bioquímica, Instituto de Investigaciones Biomédicas "Alberto Sols" CSIC-UAM, Madrid, Spain.
Bornstein
B
B
Campos
Y
Y
Arenas
J
J
Garesse
R
R
D015152:Blotting, Northern; D015153:Blotting, Western; D002478:Cells, Cultured; D018387:Codon, Initiator / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008928:Mitochondria / Q000201:enzymology / Q000235:genetics*; D009245:NADH Dehydrogenase / Q000096:biosynthesis / Q000235:genetics*; D010085:Oxidative Phosphorylation; D017354:Point Mutation; D014176:Protein Biosynthesis; D012867:Skin / Q000166:cytology
D018387:Codon, Initiator; D004272:DNA, Mitochondrial; D009245:NADH Dehydrogenase