Previously unclassified mutation of mtDNA m.3472T>C: Evidence of pathogenicity in Leber’s hereditary optic neuropathy
- Авторлар: 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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Мекемелер:
- Research Institute of Eye Diseases
- Research Center for Medical Genetics
- Belozersky Institute of Physico-Chemical Biology
- Шығарылым: Том 81, № 7 (2016)
- Беттер: 748-754
- Бөлім: Article
- URL: https://journals.rcsi.science/0006-2979/article/view/150951
- DOI: https://doi.org/10.1134/S0006297916070117
- ID: 150951
Дәйексөз келтіру
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.
Авторлар туралы
N. Sheremet
Research Institute of Eye Diseases
Хат алмасуға жауапты Автор.
Email: sheremet_n@mail.ru
Ресей, Moscow, 119021
T. Nevinitsyna
Research Institute of Eye Diseases
Email: sheremet_n@mail.ru
Ресей, Moscow, 119021
N. Zhorzholadze
Research Institute of Eye Diseases
Email: sheremet_n@mail.ru
Ресей, Moscow, 119021
I. Ronzina
Research Institute of Eye Diseases
Email: sheremet_n@mail.ru
Ресей, Moscow, 119021
Y. Itkis
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
Ресей, Moscow, 115478
T. Krylova
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
Ресей, Moscow, 115478
P. Tsygankova
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
Ресей, Moscow, 115478
V. Malakhova
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
Ресей, Moscow, 115478
E. Zakharova
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
Ресей, Moscow, 115478
A. Tokarchuk
Belozersky Institute of Physico-Chemical Biology
Email: sheremet_n@mail.ru
Ресей, Moscow, 119991
A. Panteleeva
Belozersky Institute of Physico-Chemical Biology
Email: sheremet_n@mail.ru
Ресей, Moscow, 119991
E. Karger
Belozersky Institute of Physico-Chemical Biology
Email: sheremet_n@mail.ru
Ресей, Moscow, 119991
K. Lyamzaev
Belozersky Institute of Physico-Chemical Biology
Email: sheremet_n@mail.ru
Ресей, Moscow, 119991
S. Avetisov
Research Institute of Eye Diseases
Email: sheremet_n@mail.ru
Ресей, Moscow, 119021
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