Krylova 2019 Mitochondrion: Difference between revisions
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{{Publication | {{Publication | ||
|title=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. | |title=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. | ||
|info=[https://www.ncbi.nlm.nih.gov/pubmed/31669237 PMID: 31669237] | |info=[https://www.ncbi.nlm.nih.gov/pubmed/31669237 PMID: 31669237 Open Access] | ||
|authors=Krylova TD, Sheremet NL, Tabakov VY, Lyamzaev KG, Itkis YS, Tsygankova PG, Andreeva NA, Shmelkova MS, Nevinitsyna TA, Kadyshev VV, Zakharova EY | |authors=Krylova TD, Sheremet NL, Tabakov VY, Lyamzaev KG, Itkis YS, Tsygankova PG, Andreeva NA, Shmelkova MS, Nevinitsyna TA, Kadyshev VV, Zakharova EY | ||
|year=2019 | |year=2019 | ||
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|keywords=Heteroplasmy, High-resolution respirometry, LHON, Paraquat, ROS, mtDNA | |keywords=Heteroplasmy, High-resolution respirometry, LHON, Paraquat, ROS, mtDNA | ||
|editor=[[Plangger M]], | |editor=[[Plangger M]], | ||
|mipnetlab=RU Moscow Itkis YS | |||
}} | }} | ||
{{Labeling | {{Labeling | ||
|area=Respiration, mtDNA;mt-genetics, Patients | |area=Respiration, mtDNA;mt-genetics, Patients | ||
|organism=Human | |||
|tissues=Fibroblast | |||
|preparations=Permeabilized cells, Intact cells | |||
|couplingstates=LEAK, ROUTINE, OXPHOS, ET | |||
|pathways=N, S, CIV, NS, ROX | |||
|instruments=Oxygraph-2k | |instruments=Oxygraph-2k | ||
|additional=2020-03, | |additional=2020-03, | ||
}} | }} |
Latest revision as of 17:02, 16 March 2020
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. |
Krylova TD, Sheremet NL, Tabakov VY, Lyamzaev KG, Itkis YS, Tsygankova PG, Andreeva NA, Shmelkova MS, Nevinitsyna TA, Kadyshev VV, Zakharova EY (2019) Mitochondrion
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 ยฉ 2019 Elsevier B.V. and Mitochondria Research Society. All rights reserved. โข Keywords: Heteroplasmy, High-resolution respirometry, LHON, Paraquat, ROS, mtDNA โข Bioblast editor: Plangger M โข O2k-Network Lab: RU Moscow Itkis YS
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
2020-03