Previously unclassified mutation of mtDNA m.3472T>C: Evidence of pathogenicity in Leber’s hereditary optic neuropathy
- 作者: 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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隶属关系:
- Research Institute of Eye Diseases
- Research Center for Medical Genetics
- Belozersky Institute of Physico-Chemical Biology
- 期: 卷 81, 编号 7 (2016)
- 页面: 748-754
- 栏目: Article
- URL: https://journals.rcsi.science/0006-2979/article/view/150951
- DOI: https://doi.org/10.1134/S0006297916070117
- ID: 150951
如何引用文章
详细
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.
作者简介
N. Sheremet
Research Institute of Eye Diseases
编辑信件的主要联系方式.
Email: sheremet_n@mail.ru
俄罗斯联邦, Moscow, 119021
T. Nevinitsyna
Research Institute of Eye Diseases
Email: sheremet_n@mail.ru
俄罗斯联邦, Moscow, 119021
N. Zhorzholadze
Research Institute of Eye Diseases
Email: sheremet_n@mail.ru
俄罗斯联邦, Moscow, 119021
I. Ronzina
Research Institute of Eye Diseases
Email: sheremet_n@mail.ru
俄罗斯联邦, Moscow, 119021
Y. Itkis
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
俄罗斯联邦, Moscow, 115478
T. Krylova
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
俄罗斯联邦, Moscow, 115478
P. Tsygankova
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
俄罗斯联邦, Moscow, 115478
V. Malakhova
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
俄罗斯联邦, Moscow, 115478
E. Zakharova
Research Center for Medical Genetics
Email: sheremet_n@mail.ru
俄罗斯联邦, Moscow, 115478
A. Tokarchuk
Belozersky Institute of Physico-Chemical Biology
Email: sheremet_n@mail.ru
俄罗斯联邦, Moscow, 119991
A. Panteleeva
Belozersky Institute of Physico-Chemical Biology
Email: sheremet_n@mail.ru
俄罗斯联邦, Moscow, 119991
E. Karger
Belozersky Institute of Physico-Chemical Biology
Email: sheremet_n@mail.ru
俄罗斯联邦, Moscow, 119991
K. Lyamzaev
Belozersky Institute of Physico-Chemical Biology
Email: sheremet_n@mail.ru
俄罗斯联邦, Moscow, 119991
S. Avetisov
Research Institute of Eye Diseases
Email: sheremet_n@mail.ru
俄罗斯联邦, Moscow, 119021
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