Gene Symbol: ND1
Description: NADH dehydrogenase subunit 1
Species: Neandertal

Top Publications

  1. Huebinger R, Gomez R, McGee D, Chang L, Bender J, O Keeffe T, et al. Association of mitochondrial allele 4216C with increased risk for sepsis-related organ dysfunction and shock after burn injury. Shock. 2010;33:19-23 pubmed publisher
    ..a nonsynonymous mitochondrial polymorphism (T4216C) in the nicotinamide adenine dinucleotide dehydrogenase 1 gene (ND1), encoding a key member of complex I within the electron transport chain, which is found almost exclusively among ..
  2. 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. ..
  3. Martínez Romero I, Herrero Martín M, Llobet L, Emperador S, Martín Navarro A, Narberhaus B, et al. New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy. Clin Exp Ophthalmol. 2014;42:856-64 pubmed publisher
    ..Genetic analysis revealed an m.3472T>C transition in the MT-ND1 gene that changes a phenylalanine to leucine at position 56...
  4. Yang J, Zhu Y, Tong Y, Chen L, Liu L, Zhang Z, et al. Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation. Biochem Biophys Res Commun. 2009;386:50-4 pubmed publisher
    ..Mitochondrial genome sequence analysis revealed the presence of a homoplasmic ND1 G3635A mutation in both families...
  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 ..
  6. Sundaresan P, Kumar S, Thompson S, Fingert J. Reduced frequency of known mutations in a cohort of LHON patients from India. Ophthalmic Genet. 2010;31:196-9 pubmed publisher
    ..Further study of subjects with LHON from India may lead to the discovery of novel disease-causing mutations and/or genes. ..
  7. 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...
  8. 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...
  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


  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
    ..or homoplasmic point mutations (29 for Series A and 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 -..
  2. 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
  3. 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...
  4. 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...
  5. Lim S, Hroudová J, Van Bergen N, Lopez Sanchez M, Trounce I, McKenzie M. Loss of mitochondrial DNA-encoded protein ND1 results in disruption of complex I biogenesis during early stages of assembly. FASEB J. 2016;30:2236-48 pubmed publisher
    ..One of its mitochondrial DNA (mtDNA) encoded subunits, ND1, is incorporated during the early stages of complex I assembly...
  6. Huang P, Zhang Y, Zhao T. [The relationship between copy number and microsatellite instability of mitochondrial DNA in colorectal cancer]. Zhonghua Nei Ke Za Zhi. 2009;48:837-40 pubmed
    ..region sequencing was done and the copy number of mtDNA was quantitated with real-time PCR in mitochondrial ND1 gene. The relationship between clinical indicators, mtMSI and mitochondrial copy number was detected. ..
  7. 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...
  8. 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. ..
  9. 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
  10. 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...
  11. 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...
  12. Zhou X, Qian Y, Zhang J, Tong Y, Jiang P, Liang M, et al. Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families. Invest Ophthalmol Vis Sci. 2012;53:4586-94 pubmed publisher
    ..Molecular analysis identified the ND1 T3866C (I187T) mutation and distinct sets of polymorphisms belonging to the Eastern Asian haplogroups D4a, M10a, ..
  13. Jin X, Wang L, Gong Y, Chen B, Wang Y, Chen T, et al. Leber's Hereditary Optic Neuropathy is Associated with Compound Primary Mutations of Mitochondrial ND1 m.3635G?>?A and ND6 m.14502 T?>?C. Ophthalmic Genet. 2015;36:291-8 pubmed publisher
    ..Modeled mutant structure showed the mutations altered the molecular local space conformation on the surface of ND1 and ND6. Compound mtDNA mutations of m.3635G?>?A and m...
  14. Gomez R, O Keeffe T, Chang L, Huebinger R, Minei J, Barber R. Association of mitochondrial allele 4216C with increased risk for complicated sepsis and death after traumatic injury. J Trauma. 2009;66:850-7; discussion 857-8 pubmed publisher
    ..These DNA variants include a nonsynonymous polymorphism (T4216C) in the NADH dehydrogenase 1 gene (ND1), which encodes a key member of Complex I of the electron transport chain...
  15. Tong Y, Sun Y, Zhou X, Zhao F, Mao Y, Wei Q, et al. Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation. Mol Genet Metab. 2010;99:417-24 pubmed publisher
    ..8 years old. Molecular analysis of mitochondrial genomes identified the homoplasmic ND1 G3460A mutation and distinct sets of variants, belonging to the Asian haplogroups B5b, C4a1, D5, F1, and R9, ..