Krylova 2019 Mitochondrion
|Krylova TD, Sheremet NL, Tabakov VY, Lyamzaev KG, Itkis YS, Tsygankova PG, Andreeva NA, Shmelkova MS, Nevinitsyna TA, Kadyshev VV, Zakharova EY (2019) Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy. Mitochondrion 50:139-144.|
Abstract: In this article we present clinical, molecular and biochemical investigations of three patients with LHON caused by rare point substitutions in mtDNA. One patient harbours the known mtDNA mutation (m.13513 G>A), the others have new variants (m.13379 A>G in MT-ND5 gene and m.14597 A>G in MT-ND6 gene, which has never been previously associated with LHON). NGS analysis of a whole mtDNA derived from patient's blood revealed a low mutation load (24%, 47%, 23% respectively). Our data, including family segregation analysis, measurement of reactive oxygen species (ROS) production and cytotoxic effect of paraquat and high-resolution respirometry, showed that nucleotide variant m.14597 A>G can be classified as pathogenic mutation.
Copyright © 2019 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
Labels: MiParea: Respiration, mtDNA;mt-genetics, Patients
Organism: Human Tissue;cell: Fibroblast Preparation: Permeabilized cells, Intact cells
Coupling state: LEAK, ROUTINE, OXPHOS, ET Pathway: N, S, CIV, NS, ROX HRR: Oxygraph-2k