ND4

Summary

Gene Symbol: ND4
Description: NADH dehydrogenase subunit 4
Species: Neandertal

Top Publications

  1. 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
    ..In addition, three mutations, that is, m.8348A>G in the MT-TK gene, m.11778G>A in the MT-ND4 gene and 15498G>A in the MT-CYB gene were detected in one patient for each...
  2. 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
  3. SanGiovanni J, Arking D, Iyengar S, Elashoff M, Clemons T, Reed G, et al. Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration. PLoS ONE. 2009;4:e5508 pubmed publisher
    ..were driven entirely by the T2 haplogroup, and characterized by two variants in Complex I genes (A11812G of MT-ND4 and A14233G of MT-ND6)...
  4. Kirkman M, Yu Wai Man P, Korsten A, Leonhardt M, Dimitriadis K, de Coo I, et al. Gene-environment interactions in Leber hereditary optic neuropathy. Brain. 2009;132:2317-26 pubmed publisher
    ..Based on these findings, asymptomatic carriers of a LHON mtDNA mutation should be strongly advised not to smoke and to moderate their alcohol intake. ..
  5. Kaare M, G tz A, Ulander V, Ariansen S, Kaaja R, Suomalainen A, et al. Do mitochondrial mutations cause recurrent miscarriage?. Mol Hum Reprod. 2009;15:295-300 pubmed publisher
    ..In addition, none of the detected variations were previously known to be pathogenic and therefore they are an unlikely cause of miscarriage...
  6. Koilkonda R, Yu H, Chou T, Feuer W, Ruggeri M, Porciatti V, et al. Safety and effects of the vector for the Leber hereditary optic neuropathy gene therapy clinical trial. JAMA Ophthalmol. 2014;132:409-20 pubmed publisher
    ..optic neuropathy (LHON) caused by a mutation in the nicotinamide adenine dinucleotide dehydrogenase subunit IV (ND4) mitochondrial gene...
  7. 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...
  8. Cai W, Fu Q, Zhou X, Qu J, Tong Y, Guan M. Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation. J Genet Genomics. 2008;35:649-55 pubmed publisher
    ..Sequence analysis of mitochondrial genome in this pedigree revealed the presence of the ND4 G11778A mutation and 44 other variants belonging to Asian haplogroup M7b...
  9. 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...

More Information

Publications15

  1. 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
    ..32 for Series B) in 22 genes: 1 each in MT-RNR1, -TV, -ND1, -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-..
  2. Luo Y, Tang S, Gao W, Chen L, Yang X, Huang T, et al. Genotyping mitochondrial DNA single nucleotide polymorphisms by PCR ligase detection reactions. Clin Chem Lab Med. 2010;48:475-83 pubmed publisher
    ..The PCR-LDR mtDNA genotyping technique is simple, highly accurate, has high-throughput, and is cost-effective. Therefore, this method is applicable to mtDNA haplotyping in various applications...
  3. 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...
  4. Bi R, Zhang A, Yu D, Chen D, Yao Y. Screening the three LHON primary mutations in the general Chinese population by using an optimized multiplex allele-specific PCR. Clin Chim Acta. 2010;411:1671-4 pubmed publisher
    ..The optimized MAS-PCR assay provides an easier, faster and more cost-effective method for detection of the three LHON primary mutations, making it practical for clinical diagnosis...
  5. 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
  6. Vijaya Padma V, Anitha S, Santhini E, Pradeepa D, Tresa D, Ganesan P, et al. Mitochondrial and nuclear gene mutations in the type 2 diabetes patients of Coimbatore population. Mol Cell Biochem. 2010;345:223-9 pubmed publisher
    ..Our results suggest that the T8356C and GLUT1 gene mutations may have an important role in developing late-onset T2D in Coimbatore population. Particularly, individuals with GLUT1 gene may develop kidney dysfunction at their later age. ..