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Optimized allotopic expression of mitochondrial ND6 transgene restored complex I and apoptosis deficiencies caused by LHON-linked ND6 14484T > C mutation.
Wang J, Ji Y, Ai C, Chen JR, Gan D, Zhang J, Mo JQ, Guan MX. Wang J, et al. J Biomed Sci. 2023 Aug 3;30(1):63. doi: 10.1186/s12929-023-00951-1. J Biomed Sci. 2023. PMID: 37537557 Free PMC article.
RESULTS: The transfer of human ND6 into the cybrids carrying the m.14484T > C mutation raised the levels of ND6, ND1 and ND4L but did not change the levels of other mitochondrial proteins. The overexpression of ND6 led to 20~23% increases in the assembly and acti …
RESULTS: The transfer of human ND6 into the cybrids carrying the m.14484T > C mutation raised the levels of ND6, ND1 and ND4L but …
Human clinical mutations in mitochondrially encoded subunits of Complex I can be successfully modeled in E. coli.
Zhang F, Dang QL, Vik SB. Zhang F, et al. Mitochondrion. 2022 May;64:59-72. doi: 10.1016/j.mito.2022.03.001. Epub 2022 Mar 17. Mitochondrion. 2022. PMID: 35306226 Free PMC article.
Respiratory Complex I is the site of a large fraction of the mutations that appear to cause mitochondrial disease. ...These mutations have been modeled in E. coli subunits of Complex I, nuoN, nuoA, nuoM, nuoK, nuoL, and nuoJ, respectively …
Respiratory Complex I is the site of a large fraction of the mutations that appear to cause mitochondrial disease. ...T …
Lack of association between single polymorphic variants of the mitochondrial nicotinamide adenine dinucleotide dehydrogenase 3, and 4L (MT-ND3 and MT-ND4L) and male infertility.
Dahadhah FW, Saleh Jaweesh M, Al Zoubi MS, Issam Abu Alarjah M, Hammadeh ME, Amor H. Dahadhah FW, et al. Andrologia. 2021 Sep;53(8):e14139. doi: 10.1111/and.14139. Epub 2021 Jun 12. Andrologia. 2021. PMID: 34120353
The purpose of this study was to identify suspected correlations between infertility and polymorphisms in mitochondrial NADH dehydrogenase subunits 3 and 4L (MT-ND3 and MT-ND4L) in subfertile male spermatozoa. ...In conclusion, the investigated …
The purpose of this study was to identify suspected correlations between infertility and polymorphisms in mitochondrial NADH d …
In utero particulate matter exposure in association with newborn mitochondrial ND4L(10550A>G) heteroplasmy and its role in overweight during early childhood.
Cosemans C, Wang C, Alfano R, Martens DS, Sleurs H, Dockx Y, Vanbrabant K, Janssen BG, Vanpoucke C, Lefebvre W, Smeets K, Nawrot TS, Plusquin M. Cosemans C, et al. Environ Health. 2022 Sep 19;21(1):88. doi: 10.1186/s12940-022-00899-z. Environ Health. 2022. PMID: 36117180 Free PMC article.
Placental mtDNA mutations have been associated with prenatal particulate matter exposure and MT-ND4L(10550A>G) heteroplasmy has been associated with BMI in adults. Therefore, we hypothesized that in utero PM(2.5) exposure is associated with cord blood MT- …
Placental mtDNA mutations have been associated with prenatal particulate matter exposure and MT-ND4L(10550A>G) heteroplasmy …
Ribosome Profiling and Mass Spectrometry Reveal Widespread Mitochondrial Translation Defects in a Striatal Cell Model of Huntington Disease.
Dagar S, Sharma M, Tsaprailis G, Tapia CS, Crynen G, Joshi PS, Shahani N, Subramaniam S. Dagar S, et al. Mol Cell Proteomics. 2024 Apr;23(4):100746. doi: 10.1016/j.mcpro.2024.100746. Epub 2024 Mar 5. Mol Cell Proteomics. 2024. PMID: 38447791 Free PMC article.
By contrast, ribosome occupancy was dramatically increased for mitochondrially encoded oxidative phosphorylation mRNAs (mt-Nd1, mt-Nd2, mt-Nd4, mt-Nd4l, mt-Nd5, mt-Nd6, mt-Co1, mt-Cytb, and mt-ATP8). ...We found many mitochondrial transcripts wi …
By contrast, ribosome occupancy was dramatically increased for mitochondrially encoded oxidative phosphorylation mRNAs (mt-Nd1 …
Leber's hereditary optic neuropathy-associated ND6 14484T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy.
Liang M, Ji Y, Zhang L, Wang X, Hu C, Zhang J, Zhu Y, Mo JQ, Guan MX. Liang M, et al. Hum Mol Genet. 2022 Sep 29;31(19):3299-3312. doi: 10.1093/hmg/ddac109. Hum Mol Genet. 2022. PMID: 35567411
The structural analysis of complex I revealed that the M64 forms a nonpolar interaction Y59 in the ND6, Y59 in the ND6 interacts with E34 of ND4L, and L60 of ND6 interacts with the Y114 of ND1. These suggested that the m.14484T > C mutation may perturb the …
The structural analysis of complex I revealed that the M64 forms a nonpolar interaction Y59 in the ND6, Y59 in the ND6 interac …
Down-regulation of mitochondrial NADH and cytochrome b gene associated with high tumor stages in head and neck squamous cell carcinoma.
Wangpermtam P, Petmitr S, Punyarit P, Klongnoi B, Sanguansin S. Wangpermtam P, et al. Arch Oral Biol. 2019 Mar;99:107-112. doi: 10.1016/j.archoralbio.2019.01.005. Epub 2019 Jan 10. Arch Oral Biol. 2019. PMID: 30658318
METHODS: The mRNA expression levels of all 12 genes encoded protein, located on the heavy-strand of mitochondrial DNA including cytochrome b, NADH1, NADH2, NADH3, NADH4, NADH4L, NADH5, ATPase6, ATPase8, cytochrome c oxidase subunit 1, cytochrome …
METHODS: The mRNA expression levels of all 12 genes encoded protein, located on the heavy-strand of mitochondrial DNA i …
Deactivation blocks proton pathways in the mitochondrial complex I.
Röpke M, Riepl D, Saura P, Di Luca A, Mühlbauer ME, Jussupow A, Gamiz-Hernandez AP, Kaila VRI. Röpke M, et al. Proc Natl Acad Sci U S A. 2021 Jul 20;118(29):e2019498118. doi: 10.1073/pnas.2019498118. Proc Natl Acad Sci U S A. 2021. PMID: 34272275 Free PMC article.
By combining large-scale classical and quantum mechanical simulations with cryo-electron microscopy data, we resolve here molecular details of conformational changes linked to proton pumping in the mammalian complex I. Our data suggest that complex I d …
By combining large-scale classical and quantum mechanical simulations with cryo-electron microscopy data, we resolve here molecular details …
MST1, a novel therapeutic target for Alzheimer's disease, regulates mitochondrial homeostasis by mediating mitochondrial DNA transcription and the PI3K-Akt-ROS pathway.
Cui D, Liu H, Cao L, Du X, Liu D, Liu Z, Wang T, Yang H, Zheng X, Xie Z, Xu S, Bi J, Wang P. Cui D, et al. J Transl Med. 2024 Nov 22;22(1):1056. doi: 10.1186/s12967-024-05852-x. J Transl Med. 2024. PMID: 39578795 Free PMC article.
Similarly, in vitro, MST1 overexpression facilitated apoptosis and mitochondrial dysfunction. MST1 knockdown and chemical inactivation reduced cognitive decline, mitochondrial dysfunction, and neuronal degeneration. Mechanistically, MST1 regulated the transcription …
Similarly, in vitro, MST1 overexpression facilitated apoptosis and mitochondrial dysfunction. MST1 knockdown and chemical inactivatio …
Novel non-neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia.
Järviaho T, Hurme-Niiranen A, Soini HK, Niinimäki R, Möttönen M, Savolainen ER, Hinttala R, Harila-Saari A, Uusimaa J. Järviaho T, et al. Clin Genet. 2018 Feb;93(2):275-285. doi: 10.1111/cge.13100. Epub 2017 Dec 20. Clin Genet. 2018. PMID: 28708239
Low OXPHOS activity and increased glycolysis are associated with aggressive types of cancer. Mitochondria have their own genome (mitochondrial DNA [mtDNA]) encoding for 13 essential subunits of the OXPHOS enzyme complexes. ...Missense or nonsense mtDNA …
Low OXPHOS activity and increased glycolysis are associated with aggressive types of cancer. Mitochondria have their own genome (m …
21 results