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

N. L. Sheremet; T. A. Nevinitsyna; N. V. Zhorzholadze; I. A. Ronzina; Y. S. Itkis; T. D. Krylova; P. G. Tsygankova; V. A. Malakhova; E. Y. Zakharova; A. V. Tokarchuk; A. A. Panteleeva; E. M. Karger; K. G. Lyamzaev; S. E. Avetisov

doi:10.1134/S0006297916070117

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

Authors: Sheremet N.L.¹, Nevinitsyna T.A.¹, Zhorzholadze N.V.¹, Ronzina I.A.¹, Itkis Y.S.², Krylova T.D.², Tsygankova P.G.², Malakhova V.A.², Zakharova E.Y.², Tokarchuk A.V.³, Panteleeva A.A.³, Karger E.M.³, Lyamzaev K.G.³, Avetisov S.E.¹
Affiliations:
1. Research Institute of Eye Diseases
2. Research Center for Medical Genetics
3. Belozersky Institute of Physico-Chemical Biology
Issue: Vol 81, No 7 (2016)
Pages: 748-754
Section: Article
URL: https://journals.rcsi.science/0006-2979/article/view/150951
DOI: https://doi.org/10.1134/S0006297916070117
ID: 150951

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Abstract

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.

Keywords

Leber’s hereditary optic neuropathy, mtDNA mutations, respiratory chain complex I, fibroblasts

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

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Abstract

Keywords

About the authors

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