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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| Published in: | Biochemistry (Moscow) Vol. 81; no. 7; pp. 748 - 754 |
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| Main Authors: | , , , , , , , , , , , , , |
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| Language: | English |
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01.07.2016
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| ISSN: | 0006-2979, 1608-3040 |
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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. |
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| AbstractList | 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. 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. DOI: 10.1134/S0006297916070117 Key words: Leber's hereditary optic neuropathy, mtDNA mutations, respiratory chain complex I, fibroblasts 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. |
| Audience | Academic |
| Author | Lyamzaev, K. G. Krylova, T. D. Karger, E. M. Tsygankova, P. G. Ronzina, I. A. Tokarchuk, A. V. Panteleeva, A. A. Zhorzholadze, N. V. Avetisov, S. E. Itkis, Y. S. Sheremet, N. L. Zakharova, E. Y. Malakhova, V. A. Nevinitsyna, T. A. |
| Author_xml | – sequence: 1 givenname: N. L. surname: Sheremet fullname: Sheremet, N. L. email: sheremet_n@mail.ru organization: Research Institute of Eye Diseases – sequence: 2 givenname: T. A. surname: Nevinitsyna fullname: Nevinitsyna, T. A. organization: Research Institute of Eye Diseases – sequence: 3 givenname: N. V. surname: Zhorzholadze fullname: Zhorzholadze, N. V. organization: Research Institute of Eye Diseases – sequence: 4 givenname: I. A. surname: Ronzina fullname: Ronzina, I. A. organization: Research Institute of Eye Diseases – sequence: 5 givenname: Y. S. surname: Itkis fullname: Itkis, Y. S. organization: Research Center for Medical Genetics – sequence: 6 givenname: T. D. surname: Krylova fullname: Krylova, T. D. organization: Research Center for Medical Genetics – sequence: 7 givenname: P. G. surname: Tsygankova fullname: Tsygankova, P. G. organization: Research Center for Medical Genetics – sequence: 8 givenname: V. A. surname: Malakhova fullname: Malakhova, V. A. organization: Research Center for Medical Genetics – sequence: 9 givenname: E. Y. surname: Zakharova fullname: Zakharova, E. Y. organization: Research Center for Medical Genetics – sequence: 10 givenname: A. V. surname: Tokarchuk fullname: Tokarchuk, A. V. organization: Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University – sequence: 11 givenname: A. A. surname: Panteleeva fullname: Panteleeva, A. A. organization: Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University – sequence: 12 givenname: E. M. surname: Karger fullname: Karger, E. M. organization: Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University – sequence: 13 givenname: K. G. surname: Lyamzaev fullname: Lyamzaev, K. G. organization: Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University – sequence: 14 givenname: S. E. surname: Avetisov fullname: Avetisov, S. E. organization: Research Institute of Eye Diseases |
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| CitedBy_id | crossref_primary_10_1007_s11033_025_10394_6 crossref_primary_10_1007_s42485_025_00189_5 crossref_primary_10_1016_j_jns_2017_07_017 crossref_primary_10_1134_S1990750818010080 crossref_primary_10_17116_oftalma2023139061166 crossref_primary_10_4103_ijo_IJO_358_17 |
| Cites_doi | 10.1016/j.bbrc.2007.04.106 10.1016/j.preteyeres.2003.10.003 10.1038/eye.2014.37 10.1016/j.ab.2013.02.010 10.1111/ceo.12355 10.1093/brain/awp158 10.1016/j.mito.2012.11.001 10.1093/brain/awt343 10.1097/00006324-199601000-00008 10.1093/brain/awh258 10.1136/bjo.80.1.78 10.1007/978-1-61779-382-0_3 10.1016/j.preteyeres.2010.11.002 10.1038/cddis.2015.364 10.1093/hmg/11.4.431 10.1089/ars.2011.4123 10.1073/pnas.88.18.8198 10.1016/j.mito.2009.06.003 10.1371/journal.pone.0042242 10.1002/1097-0320(20011001)45:2<151::AID-CYTO1157>3.0.CO;2-I 10.1074/jbc.M708597200 10.1001/archneur.62.5.730 10.1007/978-1-60761-411-1_4 10.1093/nar/gkl927 10.1016/S0005-2728(98)00120-0 |
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| Keywords | mtDNA mutations fibroblasts Leber’s hereditary optic neuropathy respiratory chain complex I |
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| Title | Previously unclassified mutation of mtDNA m.3472T>C: Evidence of pathogenicity in Leber’s hereditary optic neuropathy |
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