Отправить статью по E-mail Previously unclassified mutation of mtDNA m.3472T>C: Evidence of pathogenicity in Leber’s hereditary optic neuropathy
- Авторы: 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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Учреждения:
- Research Institute of Eye Diseases
- Research Center for Medical Genetics
- Belozersky Institute of Physico-Chemical Biology
- Выпуск: Том 81, № 7 (2016)
- Страницы: 748-754
- Раздел: Article
- URL: https://journals.rcsi.science/0006-2979/article/view/150951
- DOI: https://doi.org/10.1134/S0006297916070117
- ID: 150951
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Аннотация
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.
Об авторах
N. Sheremet
Research Institute of Eye Diseases
Автор, ответственный за переписку.
Email: sheremet_n@mail.ru
Россия, Moscow, 119021
T. Nevinitsyna
Research Institute of Eye Diseases
Email: sheremet_n@mail.ru
Россия, Moscow, 119021
N. Zhorzholadze
Research Institute of Eye Diseases
Email: sheremet_n@mail.ru
Россия, Moscow, 119021
I. Ronzina
Research Institute of Eye Diseases
Email: sheremet_n@mail.ru
Россия, Moscow, 119021
Y. Itkis
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
Россия, Moscow, 115478
T. Krylova
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
Россия, Moscow, 115478
P. Tsygankova
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
Россия, Moscow, 115478
V. Malakhova
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
Россия, Moscow, 115478
E. Zakharova
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
Россия, Moscow, 115478
A. Tokarchuk
Belozersky Institute of Physico-Chemical Biology
Email: sheremet_n@mail.ru
Россия, Moscow, 119991
A. Panteleeva
Belozersky Institute of Physico-Chemical Biology
Email: sheremet_n@mail.ru
Россия, Moscow, 119991
E. Karger
Belozersky Institute of Physico-Chemical Biology
Email: sheremet_n@mail.ru
Россия, Moscow, 119991
K. Lyamzaev
Belozersky Institute of Physico-Chemical Biology
Email: sheremet_n@mail.ru
Россия, Moscow, 119991
S. Avetisov
Research Institute of Eye Diseases
Email: sheremet_n@mail.ru
Россия, Moscow, 119021
