ND5

Summary

Gene Symbol: ND5
Description: NADH dehydrogenase subunit 5
Species: Neandertal

Top Publications

  1. Kenney M, Atilano S, Boyer D, Chwa M, Chak G, Chinichian S, et al. Characterization of retinal and blood mitochondrial DNA from age-related macular degeneration patients. Invest Ophthalmol Vis Sci. 2010;51:4289-97 pubmed publisher
    ..003) and younger (P = 0.05) normal subjects. The C12557T (T-I) in the MT-ND5 gene was present in two AMD subjects (2/138) but was absent in the normal (0/133)...
  2. Singh R, Saini S, Verma D, Kalaiarasan P, Bamezai R. Mitochondrial ND5 mutation mediated elevated ROS regulates apoptotic pathway epigenetically in a P53 dependent manner for generating pro-cancerous phenotypes. Mitochondrion. 2017;35:35-43 pubmed publisher
    ..have characterized here the role of over-expressed wild type mtND5 and one of its non-synonymous somatic mutation, ND5:P265H...
  3. Shen L, Wei J, Chen T, He J, Qu J, He X, et al. Evaluating mitochondrial DNA in patients with breast cancer and benign breast disease. J Cancer Res Clin Oncol. 2011;137:669-75 pubmed publisher
    ..region or D-loop region and an essential and the largest mtDNA protein-coding gene, NADH dehydrogenase subunit 5 (ND5), together with a mitochondrial haplogroup analysis in 64 patients with breast cancer (BC) and 54 patients with ..
  4. Banerjee D, Banerjee A, Mookherjee S, Vishal M, Mukhopadhyay A, Sen A, et al. Mitochondrial genome analysis of primary open angle glaucoma patients. PLoS ONE. 2013;8:e70760 pubmed publisher
    ..49 vs 0.31 with p<0.0001 and mutation rate p-value <1.49×10(-43)) and ND5 within its gene cluster (frequency 0.47 vs 0.23 with p<0.0001 and mutation rate p-value <4.42×10(-47))...
  5. Elango S, Venugopal S, Thangaraj K, Viswanadha V. Novel mutations in ATPase 8, ND1 and ND5 genes associated with peripheral neuropathy of diabetes. Diabetes Res Clin Pract. 2014;103:e49-52 pubmed publisher
    ..In this case report, we describe four novel mutations in Cyt b, ATPase 8, ND1 and ND5 genes' synergistic activity as plausible factors for the secondary complications of a patient with chronic T2D.
  6. Khatami M, Houshmand M, Sadeghizadeh M, Eftekharzadeh M, Heidari M, Saber S, et al. Accumulation of mitochondrial genome variations in Persian LQTS patients: a possible risk factor?. Cardiovasc Pathol. 2010;19:e21-7 pubmed publisher
  7. Yu X, Wieczorek S, Franke A, Yin H, Pierer M, Sina C, et al. Association of UCP2 -866 G/A polymorphism with chronic inflammatory diseases. Genes Immun. 2009;10:601-5 pubmed publisher
    ..82-0.95), P=0.0008), with the -866A allele associated with a decreased risk to diseases. As the -866A allele increases gene expression, our findings suggest a protective role of the UCP2 protein in chronic inflammatory diseases...
  8. Hung W, Wu C, Yin P, Chang C, Li A, Chi C, et al. Somatic mutations in mitochondrial genome and their potential roles in the progression of human gastric cancer. Biochim Biophys Acta. 2010;1800:264-70 pubmed publisher
    ..Our results suggest that somatic mtDNA mutations and mitochondrial dysfunction may play an important role in the malignant progression of gastric cancer...
  9. Kato T, Nishigaki Y, Noguchi Y, Ueno H, Hosoya H, Ito T, et al. Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss. J Hum Genet. 2010;55:147-54 pubmed publisher
    ..11778G>A in the MT-ND4 gene and 15498G>A in the MT-CYB gene were detected in one patient for each. This screening system is useful for the genetic diagnosis and epidemiological study of both syndromic and non-syndromic HL...

More Information

Publications16

  1. Kumar M, Pathak D, Kriplani A, Ammini A, Talwar P, Dada R. Nucleotide variations in mitochondrial DNA and supra-physiological ROS levels in cytogenetically normal cases of premature ovarian insufficiency. Arch Gynecol Obstet. 2010;282:695-705 pubmed publisher
  2. Granatiero V, Giorgio V, Calì T, Patron M, Brini M, Bernardi P, et al. Reduced mitochondrial Ca(2+) transients stimulate autophagy in human fibroblasts carrying the 13514A>G mutation of the ND5 subunit of NADH dehydrogenase. Cell Death Differ. 2016;23:231-41 pubmed publisher
    ..a cell culture model consisting of fibroblasts derived from patients with different mutations in the mtDNA-encoded ND5 complex I subunit and with different severities of the illness...
  3. Green R, Malaspinas A, Krause J, Briggs A, Johnson P, Uhler C, et al. A complete Neandertal mitochondrial genome sequence determined by high-throughput sequencing. Cell. 2008;134:416-26 pubmed publisher
    ..There is evidence that purifying selection in the Neandertal mtDNA was reduced compared with other primate lineages, suggesting that the effective population size of Neandertals was small...
  4. Park J, Sharma L, Li H, Xiang R, Holstein D, Wu J, et al. A heteroplasmic, not homoplasmic, mitochondrial DNA mutation promotes tumorigenesis via alteration in reactive oxygen species generation and apoptosis. Hum Mol Genet. 2009;18:1578-89 pubmed publisher
    ..first using human cell lines carrying a frame-shift at NADH dehydrogenase (respiratory complex I) subunit 5 gene (ND5); the same homoplasmic mutation was also identified in a human colorectal cancer cell line earlier...
  5. Alsbeih G, Al Harbi N, El Sebaie M, Al Rajhi N, Al Hadyan K, Abu Amero K. Involvement of mitochondrial DNA sequence variations and respiratory activity in late complications following radiotherapy. Clin Cancer Res. 2009;15:7352-60 pubmed publisher
    ..Predictive markers of radiosensitivity should take into account mtDNA genetic variations in addition to variations in nuclear genes...
  6. Nishigaki Y, Ueno H, Coku J, Koga Y, Fujii T, Sahashi K, et al. Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations. Mitochondrion. 2010;10:300-8 pubmed publisher
    ..TQ, -TW, -TC, and -TH genes; 2 each in MT-TN, -TG, -ND4, -TL2, -TE, and -CYB genes; 3 each in MT-ATP6, -ND3, and -ND5 genes; 4 each in MT-CO1 and -TK genes; 5 each in MT-TI, -TS1, and -ND6 genes; and 10 in the MT-TL1 gene...
  7. Lakatos A, Derbeneva O, Younes D, Keator D, Bakken T, Lvova M, et al. Association between mitochondrial DNA variations and Alzheimer's disease in the ADNI cohort. Neurobiol Aging. 2010;31:1355-63 pubmed publisher
    ..Our results indicate that the mitochondrial haplogroup UK may confer genetic susceptibility to AD independently of the apolipoprotein E4 (APOE4) allele...