Sheremet 2016 Biochemistry (Moscow)
| Sheremet NL, Nevinitsyna TA, Zhorzholadze NV, Ronzina IA, Itkis YS, Krylova TD, Tsygankova PG, Malakhova VA, Zakharova EY, Tokarchuk AV, Panteleeva AA, Karger EM, Lyamzaev KG, Avetisov SE (2016) Previously unclassified mutation of mtDNA m.3472T>C: evidence of pathogenicity in Leber’s hereditary optic neuropathy. Biochemistry (Moscow) BM16-078. |
Sheremet NL, Nevinitsyna TA, Zhorzholadze NV, Ronzina IA, Itkis YS, Krylova TD, Tsygankova PG, Malakhova VA, Zakharova EY, Tokarchuk AV, Panteleeva AA, Karger EM, Lyamzaev KG, Avetisov SE (2016) Biochemistry (Moscow)
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 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
• O2k-Network Lab: RU Moscow Itkis YS
Labels: MiParea: Respiration, mtDNA;mt-genetics, Patients
Organism: Human
Tissue;cell: Endothelial;epithelial;mesothelial cell, Fibroblast, Platelet
Preparation: Intact cells, Permeabilized cells
Coupling state: LEAK, ROUTINE, OXPHOS, ET
Pathway: N, S, NS, ROX
HRR: Oxygraph-2k
2016-07
