Maternally transmitted diabetes mellitus may be associated with mitochondrial ND5 T12338C and tRNA[Ala] T5587C variants. | Maternally transmitted diabetes mellitus may be associated with mitochondrial ND5 T12338C and tRNA(Ala) T5587C variants. Jiang Z, Cai X, Kong J, Zhang R, Ding Y. | 11/26/2022 |
circMTND5 Participates in Renal Mitochondrial Injury and Fibrosis by Sponging MIR6812 in Lupus Nephritis. | circMTND5 Participates in Renal Mitochondrial Injury and Fibrosis by Sponging MIR6812 in Lupus Nephritis. Luan J, Jiao C, Ma C, Zhang Y, Hao X, Zhou G, Fu J, Qiu X, Li H, Yang W, Illei GG, Kopp JB, Pi J, Zhou H., Free PMC Article | 10/29/2022 |
Impact of Mitochondrial Genetic Variants in ND1, ND2, ND5, and ND6 Genes on Sperm Motility and Intracytoplasmic Sperm Injection (ICSI) Outcomes. | Impact of Mitochondrial Genetic Variants in ND1, ND2, ND5, and ND6 Genes on Sperm Motility and Intracytoplasmic Sperm Injection (ICSI) Outcomes. Al Smadi MA, Hammadeh ME, Solomayer E, Batiha O, Altalib MM, Jahmani MY, Shboul MA, Nusair B, Amor H., Free PMC Article | 01/29/2022 |
Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I. | Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I. Nuber F, Schimpf J, di Rago JP, Tribouillard-Tanvier D, Procaccio V, Martin-Negrier ML, Trimouille A, Biner O, von Ballmoos C, Friedrich T., Free PMC Article | 11/6/2021 |
NGS-based mtDNA Profiling Could Reveal Genetic Alterations in Schizophrenia. | NGS-based mtDNA Profiling Could Reveal Genetic Alterations in Schizophrenia. Ivanova EM, Kandilarova SM, Lukanov TI, Naumova EJ, Akabalieva KV, Milanova VK. | 10/2/2021 |
2 unrelated children with Leigh syndrome were found to have de novo 13513G>A mutations in MTND5. The oculomotor symptoms and blepharoptosis were particularly notable. There was 64% heteroplasmy in the female patient and 72% in the male patient. | [Two new cases of Leigh syndrome caused by mutation m.13513G> A in the MTND5 gene]. Jimenez-Legido M, Bernardino-Cuesta B, Lopez-Marin L, Cantarin-Extremera V, Blazquez-Encinar A, Martin-Casanueva MA, Gutierrez-Solana LG. | 07/11/2020 |
In the present study, we identified a novel mutation of MT-ND5, c.1315A>G (p.Thr439Ala), in a family pedigree using whole-exome sequencing. | Whole-exome sequencing reveals a novel mutation of MT-ND5 gene in a mitochondrial cardiomyopathy pedigree: Patients who show biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance. Zhou N, Tang L, Jiang Y, Qin S, Cui J, Wang Y, Zhu W, Zhao W, Pan C, Shu X., Free PMC Article | 06/22/2019 |
MT-ND5 mutation exhibits highly variable neurological manifestations. | MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load. Ng YS, Lax NZ, Maddison P, Alston CL, Blakely EL, Hepplewhite PD, Riordan G, Meldau S, Chinnery PF, Pierre G, Chronopoulou E, Du A, Hughes I, Morris AA, Kamakari S, Chrousos G, Rodenburg RJ, Saris CGJ, Feeney C, Hardy SA, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna MG, Ohtake A, Schaefer AM, Champion MP, Turnbull DM, Taylor RW, Pitceathly RDS, McFarland R, Gorman GS., Free PMC Article | 09/22/2018 |
Data suggest that mutations in MT-CO2 and MT-ND5 can be involved in MIDD (maternally inherited diabetes and deafness); a Tunisian family (mother, daughter, son) with clinical features of MIDD associated with retinopathy exhibit mutations in MT-CO2 (m.8241T>G - p. F219C) and MT-ND5 (m.13276G>A - p. M314V); these two mutations could explain retinopathy in some family members. (MT-CO2 = cytochrome c oxidase subunit II) | Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241T>G mutation. Tabebi M, Charfi N, Kallabi F, Alila-Fersi O, Ben Mahmoud A, Tlili A, Keskes-Ammar L, Kamoun H, Abid M, Mnif M, Fakhfakh F. | 03/3/2018 |
A MELAS/Leigh syndrome phenotype caused by a mtDNA mutation [m.13513G>A; p.Asp393Asn] in the ND5 gene encoding the ND5 subunit of respiratory chain complex I was identified in a patient in a second family | Mitochondrial respiratory chain disorders in the Old Order Amish population. Ghaloul-Gonzalez L, Goldstein A, Walsh Vockley C, Dobrowolski SF, Biery A, Irani A, Ibarra J, Morton DH, Mohsen AW, Vockley J. | 12/16/2017 |
We describe a unique presentation Leber hereditary optic neuropathy (LHON) and mitochondrial encephalopathy, myopathy, lactic acidosis and stroke-like episodes (MELAS) overlap syndrome resulting from a m.13046T>C mutation in a 12-year-old girl. | Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5. Kolarova H, Liskova P, Tesarova M, Kucerova Vidrova V, Forgac M, Zamecnik J, Hansikova H, Honzik T. | 11/11/2017 |
FASTKD4 is required to promote expression of ND5. FASTKD4 may promote processing of ND5-CYB precursor or it may stabilize multiple mature RNAs including ND5. | FASTKD1 and FASTKD4 have opposite effects on expression of specific mitochondrial RNAs, depending upon their endonuclease-like RAP domain. Boehm E, Zaganelli S, Maundrell K, Jourdain AA, Thore S, Martinou JC., Free PMC Article | 10/7/2017 |
The m.13565C>T mutation in MTND5 causes defects in both mitochondrial oxidative metabolism and mitochondrial calcium sequestration in a MELAS syndrome fibroblasts. | Impaired Cellular Bioenergetics Causes Mitochondrial Calcium Handling Defects in MT-ND5 Mutant Cybrids. McKenzie M, Duchen MR., Free PMC Article | 03/25/2017 |
Mitochondrially encoded NADH dehydrogenase subunit, complex I extracts energy from NADH, produced by the oxidation of sugars and fats, and traps the energy in a potential difference or voltage across the mitochondrial inner membrane. | Mitochondrial genetic variants identified to be associated with posttraumatic stress disorder. Flaquer A, Baumbach C, Ladwig KH, Kriebel J, Waldenberger M, Grallert H, Baumert J, Meitinger T, Kruse J, Peters A, Emeny R, Strauch K., Free PMC Article | 01/23/2016 |
Study demonstrates a link between p53 and Bcl-2 proteins as regulators of ROS production and cellular invasiveness, and reveals complex-I, especially ND5, as their functional target in lung tumor cells. | Nuclear and cytoplasmic p53 suppress cell invasion by inhibiting respiratory complex-I activity via Bcl-2 family proteins. Kim EM, Park JK, Hwang SG, Kim WJ, Liu ZG, Kang SW, Um HD., Free PMC Article | 06/27/2015 |
Three mutations were significantly related to the presence of epilepsy. These mutations were found at the 8502, 11994, and 13,231 bp of mtDNA, which resulted in amino acid changes at the MT-ATP-8, MT-ND4 and MT-ND5 genes. | Mitochondrial DNA profiling via genomic analysis in mesial temporal lobe epilepsy patients with hippocampal sclerosis. Gurses C, Azakli H, Alptekin A, Cakiris A, Abaci N, Arikan M, Kursun O, Gokyigit A, Ustek D. | 04/19/2014 |
Point mutations m.10191T>C in mitochondrial ND3 gene, m.13513G>A in ND5 gene and m.14,453G>A in ND6 gene were detected in three Chinese children with Leigh synrome dur to complex I deficiency. | Mitochondrial respiratory chain enzyme assay and DNA analysis in peripheral blood leukocytes for the etiological study of Chinese children with Leigh syndrome due to complex I deficiency. Ma YY, Wu TF, Liu YP, Wang Q, Li XY, Zhang Y, Song JQ, Wang YJ, Yang YL. | 06/29/2013 |
Mitochondrial ND5 12338T>C variant is associated with maternally inherited hypertrophic cardiomyopathy in a Chinese pedigree | Mitochondrial ND5 12338T>C variant is associated with maternally inherited hypertrophic cardiomyopathy in a Chinese pedigree. Liu Z, Song Y, Gu S, He X, Zhu X, Shen Y, Wu B, Wang W, Li S, Jiang P, Lu J, Huang W, Yan Q. | 10/20/2012 |
Mitochondrial DNA mutations in respiratory complex-I in never-smoker lung cancer patients contribute to lung cancer progression in association with EGFR gene mutation. | Mitochondrial DNA mutations in respiratory complex-I in never-smoker lung cancer patients contribute to lung cancer progression and associated with EGFR gene mutation. Dasgupta S, Soudry E, Mukhopadhyay N, Shao C, Yee J, Lam S, Lam W, Zhang W, Gazdar AF, Fisher PB, Sidransky D., Free PMC Article | 04/21/2012 |
Several lines of evidence suggest that the mitochondrial ND5T12338C mutation is associated with Leber's hereditary optic neuropathy (LHON) in Chinese families. | Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families. Liu XL, Zhou X, Zhou J, Zhao F, Zhang J, Li C, Ji Y, Zhang Y, Wei QP, Sun YH, Yang L, Lin B, Yuan Y, Li Y, Qu J, Guan MX. | 07/9/2011 |
ND4 G11696A and ND5 T12338C mutation is likely associated with Leber's hereditary optic neuropathy in two Chinese families | [The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families]. Ji YC, Liu XL, Zhao FX, Zhang JJ, Zhang Y, Zhou XT, Qu J, Guan MX. | 05/28/2011 |
Patients with ND5*13513 G to A mutation may have a characteristic clinical course and ND5 *13513 G to A might be a preferential candidate mutation of Leigh syndrome. | [Mitochondrial ND5 as the causative gene of Leight syndrome]. Wang K, Yan CZ, Wang GX, Jiao JS, Jin M. | 03/12/2011 |
these results suggest that the MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with suspected LHON lacking the common primary mutations. | The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations. Zou Y, Jia X, Zhang AM, Wang WZ, Li S, Guo X, Kong QP, Zhang Q, Yao YG. | 09/20/2010 |
article describes 2 mitochondrial DNA mutations in the ND3 and ND5 genes in patients showing clinical features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes | Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies. Lim BC, Park JD, Hwang H, Kim KJ, Hwang YS, Chae JH, Cheon JE, Kim IO, Lee R, Moon HK. | 01/21/2010 |
We suggest that mtDNA G13513A mutation is an important factor in patients with Leigh syndrome associated with WPW syndrome and/or optic atrophy. | Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy. Wang SB, Weng WC, Lee NC, Hwu WL, Fan PC, Lee WT. | 01/21/2010 |