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

@article{FernndezMoreno2000ThePR,
  title={The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genes.},
  author={Miguel {\'A}ngel Fern{\'a}ndez-Moreno and Bel{\'e}n {\'A}lvarez Bornstein and Yolanda Campos and J. Olier Arenas and Rafael Garesse},
  journal={Molecular genetics and metabolism},
  year={2000},
  volume={70 3},
  pages={238-40}
}
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… CONTINUE READING