ND6

Summary

Gene Symbol: ND6
Description: NADH dehydrogenase subunit 6
Species: Neandertal

Top Publications

  1. 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...
  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. Yuan Y, Wang W, Li H, Yu Y, Tao J, Huang S, et al. Nonsense and missense mutation of mitochondrial ND6 gene promotes cell migration and invasion in human lung adenocarcinoma. BMC Cancer. 2015;15:346 pubmed publisher
    Previous study showed that mitochondrial ND6 (mitND6) gene missense mutation resulted in NADH dehydrogenase deficiency and was associated with tumor metastasis in several mouse tumor cell lines...
  4. 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...
  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. Meng X, Zhu J, Gao M, Zhang S, Zhao F, Zhang J, et al. [The analysis of mitochondrial DNA haplogroups and variants for Leber's hereditary optic neuropathy in Chinese families carrying the m.14484T >C mutation]. Yi Chuan. 2014;36:336-45 pubmed
    The m.14484T>C mutation in mitochondrial ND6 gene (MT-ND6) is a primary mutation underlying the development of Leber's hereditary optic neuropathy (LHON) , but by itself not enough to cause visual loss...
  7. 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
    ..by the T2 haplogroup, and characterized by two variants in Complex I genes (A11812G of MT-ND4 and A14233G of MT-ND6)...
  8. 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
    ..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...
  9. Qu J, Zhou X, Zhao F, Liu X, Zhang M, Sun Y, et al. Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation. Biochim Biophys Acta. 2010;1800:305-12 pubmed publisher
    ..this investigation is to understand the role of mitochondrial haplotypes in the development of LHON associated with ND6 T14484C mutation in Chinese families...

More Information

Publications17

  1. 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...
  2. 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...
  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. 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
    ..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...
  5. Liang M, Jiang P, Li F, Zhang J, Ji Y, He Y, et al. Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci. 2014;55:1321-31 pubmed publisher
    ..Mutational analysis of ND6 gene identified 92 (73 known and 19 novel) variants in these subjects...
  6. Tarnopolsky M, Meaney B, Robinson B, Sheldon K, Boles R. Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C. Am J Med Genet A. 2013;161A:2020-3 pubmed publisher
    ..14487T>C) in the mitochondrial ND6 gene, which was previously associated with Leigh syndrome and other neurological disorders...
  7. 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...
  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. ..