Gene Symbol: ND2
Description: NADH dehydrogenase subunit 2
Species: Neandertal

Top Publications

  1. Mikami E, Fuku N, Takahashi H, Ohiwa N, Scott R, Pitsiladis Y, et al. Mitochondrial haplogroups associated with elite Japanese athlete status. Br J Sports Med. 2011;45:1179-83 pubmed publisher
    ..79, 95% CI 1.28 to 6.07, p=0.007), with 15.0% compared with 6.0% in CON. The results suggest that mitochondrial haplogroups G1 and F are associated with elite EMA and SPA status in Japanese athletes, respectively...
  2. Makita R, Kokaze A, Ohtsu T, Ishikawa M, Matsunaga N, Karita K, et al. Longevity-associated NADH dehydrogenase subunit-2 237 Leu/Met polymorphism modulates the effects of daily alcohol drinking on yearly changes in serum total and LDL cholesterol in Japanese men. Acta Med Okayama. 2009;63:331-8 pubmed publisher
    Reduced nicotinamide adenine dinucleotide (NADH) dehydrogenase subunit 2 237 leucine/methionine (ND2-237 Leu/Met) polymorphism, is reportedly associated with longevity in the Japanese population...
  3. Jeoung J, Seong M, Park S, Kim D, Kim S, Park K. Mitochondrial DNA variant discovery in normal-tension glaucoma patients by next-generation sequencing. Invest Ophthalmol Vis Sci. 2014;55:986-92 pubmed publisher
    ..Of these, 21 sequence variants identified at a frequency greater than 15% were located in the ND2-ND6, RNR1, RNR2, COX1, COX3, ATP6, ATP8, and CYTB genes. Of the 21 candidate genetic variants, the frequencies of m...
  4. Kokaze A, Ishikawa M, Matsunaga N, Karita K, Yoshida M, Ohtsu T, et al. NADH dehydrogenase subunit-2 237 Leu/Met polymorphism modulates the effects of coffee consumption on the risk of hypertension in middle-aged Japanese men. J Epidemiol. 2009;19:231-6 pubmed
    ..The NADH dehydrogenase subunit-2 237 leucine/methionine (ND2-237 Leu/Met) polymorphism is associated with longevity and modifies the effects of alcohol consumption on blood ..
  5. 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...
  6. von Wurmb Schwark N, Schwark T, Caliebe A, Drenske C, Nikolaus S, Schreiber S, et al. Low level of the mtDNA(4977) deletion in blood of exceptionally old individuals. Mech Ageing Dev. 2010;131:179-84 pubmed publisher
    ..The finding was independent of smoking habits, gender or variation in APOE and FOXO3A but could be caused by other environmental and/or genetic factors. ..
  7. Kishida K, Tominaga M, Matsubara K, Taguchi M, Noguchi M, Tsunawake N, et al. An association analysis between mitochondrial DNA A10398G polymorphism and temperament in Japanese young adults. PLoS ONE. 2009;4:e7763 pubmed publisher
    ..Further studies involving a larger sample size or other ethnic groups are necessary to confirm that mtDNA A10398G polymorphism can be a genetic factor for temperament. ..
  8. Theodoratou E, Din F, Farrington S, Cetnarskyj R, Barnetson R, Porteous M, et al. Association between common mtDNA variants and all-cause or colorectal cancer mortality. Carcinogenesis. 2010;31:296-301 pubmed publisher
    ..RNA region (G752A and G1440A) and one in the nicotinamide adenine dinucleotide dehydrogenase subunit 2 region (ND2) region (G4770A), were statistically significantly associated with all-cause (Model I P-values: 0.0001, 0.002 and 0...
  9. Elstner M, Morris C, Heim K, Lichtner P, Bender A, Mehta D, et al. Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol. 2009;66:792-8 pubmed publisher
    ..The detection of a genetic variant in PDXK, together with evidence accumulating from clinical studies, emphasize the impact of vitamin B6 status and metabolism on disease risk and therapy in PD. ..

More Information


  1. Su S, Jou S, Cheng W, Lin T, Li J, Huang C, et al. Mitochondrial DNA damage in spinal and bulbar muscular atrophy patients and carriers. Clin Chim Acta. 2010;411:626-30 pubmed publisher
    ..Leukocyte mtDNA copy number, mtDNA(DeltaCT) and mtDNA4977 may serve as useful biomarkers of mtDNA damage and can be used to monitor SBMA disease progression...
  2. 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...
  3. Andalib S, Talebi M, Sakhinia E, Farhoudi M, Sadeghi Bazargani H, Gjedde A. Mitochondrial DNA T4216C and A4917G variations in multiple sclerosis. J Neurol Sci. 2015;356:55-60 pubmed publisher
    ..variation in the NADH Dehydrogenase 1 (ND1) mtDNA gene and A4917G variation in the mtDNA NADH Dehydrogenase 2 (ND2) gene are associated with MS in an Iranian population...
  4. Tseng L, Yin P, Tsai Y, Chi C, Wu C, Lee L, et al. Association between mitochondrial DNA 4,977 bp deletion and NAD(P)H:quinone oxidoreductase 1 C609T polymorphism in human breast tissues. Oncol Rep. 2009;21:1169-74 pubmed
    ..06) and the > or =50 y/o group (P=0.005). Our findings suggest that mtDNA 4,977-bp deletion associated with NQO1 deficiency is involved in carcinogenesis and progression of breast cancer...
  5. Gusdon A, Fang F, Chen J, Mathews C, Li W, Chu C, et al. Association of the mt-ND2 5178A/C polymorphism with Parkinson's disease. Neurosci Lett. 2015;587:98-101 pubmed publisher
    ..This polymorphism may be associated with resistance against the development of PD when in combination with loci on the Y chromosome. ..
  6. Miller F, Nagley P, Mariani J, Ou R, Liu V, Zhang C, et al. Age-related decline in stress responses of human myocardium may not be explained by changes in mtDNA. Mech Ageing Dev. 2009;130:742-7 pubmed publisher
    ..We conclude that, although mtDNA mutations (as exemplified by mtDNA(4977)) accumulate in the ageing heart, they are unlikely to make a major contribution to loss of contractile function. ..
  7. Kokaze A, Ishikawa M, Matsunaga N, Karita K, Yoshida M, Ohtsu T, et al. Unexpected combined effects of NADH dehydrogenase subunit-2 237 Leu/Met polymorphism and green tea consumption on renal function in male Japanese health check-up examinees: a cross-sectional study. J Negat Results Biomed. 2013;12:17 pubmed publisher
    NADH dehydrogenase subunit-2 237 leucine/methionine (ND2-237 Leu/Met) polymorphism is associated with longevity in Japanese...
  8. 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
  9. Li Y, Beckman K, Caberto C, Kazma R, Lum Jones A, Haiman C, et al. Association of Genes, Pathways, and Haplogroups of the Mitochondrial Genome with the Risk of Colorectal Cancer: The Multiethnic Cohort. PLoS ONE. 2015;10:e0136796 pubmed publisher
    ..04). In mtSNP-subset analysis, the NADH dehydrogenase 2 (MT-ND2) gene in Complex I was associated with CRC risk at a P-value of 0.001 (q = 0.015)...
  10. 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...
  11. Upadhyay R, Jain M, Kumar S, ChandGhoshal U, Mittal B. Role of mitochondrial DNA 4977-bp deletions in esophageal cancer susceptibility and prognosis in a northern Indian population. Cancer Genet Cytogenet. 2009;195:175-8 pubmed publisher
    ..Despite the low frequency of Delta upmtDNA4977 in esophageal cancer patients of northern India, this feature may have a role in esophageal cancer progression and prediction of survival outcome...
  12. Kang B, Choi H, Kwon J, Lee J. The 5178C/A and 16189T/C polymorphisms of mitochondrial DNA in Korean men and their associations with blood iron metabolism. Mol Biol Rep. 2010;37:4051-7 pubmed publisher
    ..05). Therefore, our data suggest that the 5178C/A polymorphism in the mtDNA might be useful as a genetic marker with respect to blood iron metabolism. ..
  13. Guo Y, Yang T, Liu Y, Shen H, Lei S, Yu N, et al. Mitochondria-wide association study of common variants in osteoporosis. Ann Hum Genet. 2011;75:569-74 pubmed publisher
    ..examined association between mtSNPs and bone mineral density (BMD), and identified that an mtSNP, mt4823 within the ND2 gene, was strongly associated with hip BMD (P= 2.05 × 10(-4)), even after Bonferroni correction...
  14. 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...
  15. 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...
  16. 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
  17. 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...
  18. Rollins B, Martin M, Sequeira P, Moon E, Morgan L, Watson S, et al. Mitochondrial variants in schizophrenia, bipolar disorder, and major depressive disorder. PLoS ONE. 2009;4:e4913 pubmed publisher
    ..Focusing on haplogroup and individual susceptibility factors in psychiatric disorders by considering mtDNA variants may lead to innovative treatments to improve mitochondrial health and brain function...