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

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 desc...

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Veröffentlicht in:Biochemistry (Moscow) Jg. 81; H. 7; S. 748 - 754
Hauptverfasser: Sheremet, N. L., Nevinitsyna, T. A., Zhorzholadze, N. V., Ronzina, I. A., Itkis, Y. S., Krylova, T. D., Tsygankova, P. G., Malakhova, V. A., Zakharova, E. Y., Tokarchuk, A. V., Panteleeva, A. A., Karger, E. M., Lyamzaev, K. G., Avetisov, S. E.
Format: Journal Article
Sprache:Englisch
Veröffentlicht: Moscow Pleiades Publishing 01.07.2016
Springer
Springer Nature B.V
Schlagworte:
Adult
Biochemistry
Biomedical and Life Sciences
Biomedicine
Bioorganic Chemistry
Blood Platelets - cytology
Blood Platelets - metabolism
Cells, Cultured
DNA, Mitochondrial - genetics
Female
Fibroblasts - cytology
Fibroblasts - metabolism
High-Throughput Nucleotide Sequencing
Humans
Life Sciences
Male
Microbiology
Mutation
NADH Dehydrogenase - genetics
NADH Dehydrogenase - metabolism
Optic Atrophy, Hereditary, Leber - genetics
Optic Atrophy, Hereditary, Leber - pathology
Oxygen Consumption - drug effects
Paraquat
Pathogens
Polymorphism, Single Nucleotide
Reactive Oxygen Species - metabolism
Rotenone - pharmacology
Sequence Analysis, DNA
Young Adult
mtDNA mutations
fibroblasts
Leber’s hereditary optic neuropathy
respiratory chain complex I
ISSN:0006-2979, 1608-3040
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Zusammenfassung: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.
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ISSN:0006-2979
1608-3040
DOI:10.1134/S0006297916070117