Previously unclassified mutation of mtDNA m.3472T>C: Evidence of pathogenicity in Leber’s hereditary optic neuropathy

@article{Sheremet2016PreviouslyUM,
  title={Previously unclassified mutation of mtDNA m.3472T>C: Evidence of pathogenicity in Leber’s hereditary optic neuropathy},
  author={Nickolay Sheremet and T. A. Nevinitsyna and N. V. Zhorzholadze and I. A. Ronzina and Y. S. Itkis and T. D. Krylova and Polina Tsygankova and V. A. Malakhova and Ekaterina Y Zakharova and Artem V Tokarchuk and Alisa A Panteleeva and E. M. Karger and Konstantin G. Lyamzaev and Sergei E Avetisov},
  journal={Biochemistry (Moscow)},
  year={2016},
  volume={81},
  pages={748-754}
}
Leber’s hereditary optic neuropathy (LHON) refers to a group of mitochondrial diseases and is characterized by defects of the mitochondrial electron transport chain and decreased level of oxidative phosphorylation. The list of LHON primary mtDNA mutations is regularly updated. In this study, we describe the homoplasmic nucleotide substitution m.3472T>C in the MT-ND1 (NADH-ubiquinone oxidoreductase chain 1) gene and specific changes in cell metabolism in a patient with LHON and his asymptomatic… CONTINUE READING

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