Enviar artigo por via de e-mail Previously unclassified mutation of mtDNA m.3472T>C: Evidence of pathogenicity in Leber’s hereditary optic neuropathy
- Autores: Sheremet N.1, Nevinitsyna T.1, Zhorzholadze N.1, Ronzina I.1, Itkis Y.2, Krylova T.2, Tsygankova P.2, Malakhova V.2, Zakharova E.2, Tokarchuk A.3, Panteleeva A.3, Karger E.3, Lyamzaev K.3, Avetisov S.1
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Afiliações:
- Research Institute of Eye Diseases
- Research Center for Medical Genetics
- Belozersky Institute of Physico-Chemical Biology
- Edição: Volume 81, Nº 7 (2016)
- Páginas: 748-754
- Seção: Article
- URL: https://journals.rcsi.science/0006-2979/article/view/150951
- DOI: https://doi.org/10.1134/S0006297916070117
- ID: 150951
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Resumo
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 sister. To confirm the presence of mutation-related mitochondrial dysfunction, respiration of skin fibroblasts and platelets from the patient and his sister was studied, as well as the mitochondrial potential and production of reactive oxygen species in the skin fibroblasts. In addition, based on characteristics of the toxic effect of paraquat, a new approach was developed for detecting the functional activity of complex I of the mitochondrial respiratory chain.
Sobre autores
N. Sheremet
Research Institute of Eye Diseases
Autor responsável pela correspondência
Email: sheremet_n@mail.ru
Rússia, Moscow, 119021
T. Nevinitsyna
Research Institute of Eye Diseases
Email: sheremet_n@mail.ru
Rússia, Moscow, 119021
N. Zhorzholadze
Research Institute of Eye Diseases
Email: sheremet_n@mail.ru
Rússia, Moscow, 119021
I. Ronzina
Research Institute of Eye Diseases
Email: sheremet_n@mail.ru
Rússia, Moscow, 119021
Y. Itkis
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
Rússia, Moscow, 115478
T. Krylova
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
Rússia, Moscow, 115478
P. Tsygankova
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
Rússia, Moscow, 115478
V. Malakhova
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
Rússia, Moscow, 115478
E. Zakharova
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
Rússia, Moscow, 115478
A. Tokarchuk
Belozersky Institute of Physico-Chemical Biology
Email: sheremet_n@mail.ru
Rússia, Moscow, 119991
A. Panteleeva
Belozersky Institute of Physico-Chemical Biology
Email: sheremet_n@mail.ru
Rússia, Moscow, 119991
E. Karger
Belozersky Institute of Physico-Chemical Biology
Email: sheremet_n@mail.ru
Rússia, Moscow, 119991
K. Lyamzaev
Belozersky Institute of Physico-Chemical Biology
Email: sheremet_n@mail.ru
Rússia, Moscow, 119991
S. Avetisov
Research Institute of Eye Diseases
Email: sheremet_n@mail.ru
Rússia, Moscow, 119021
