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NDUFA6  -  NADH dehydrogenase (ubiquinone) 1 alpha...

Homo sapiens

Synonyms: B14, CI-B14, Complex I-B14, LYR motif-containing protein 6, LYRM6, ...
 
 
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Disease relevance of NDUFA6

  • Here, we describe for the first time specific downregulation of a complex I subunit NDUFA6 with simultaneous impairment of mitochondrial complex I activity in HIV infection [1].
  • We found a high correlation between late-onset adrenal hyperplasia and HLA antigens B14 and Aw33 [2].
  • Idiopathic hemochromatosis is a hereditary disease that is associated with human leucocytic antigens A3, B7, and B14 [3].
  • Relevant immunologic and nonimmunologic variables were included into a multivariate Cox proportional model and three variables, namely, donor age, full HLA-DRB1 donor-recipient mismatch, and HLA B14, resulted in independent risk factors for the development of severe fibrosis [4].
  • We identified the minimal amino acid residues within the epitopes required for binding and recognition by HLA-A2- and B14-restricted CTL, identified the critical residues within the peptide sequence defining the HLA-A2-restricted response, and demonstrated that CTL can lyse T cells infected with HTLV-1 [5].
 

High impact information on NDUFA6

  • Whereas minor abnormalities, namely raised serum-iron and some increase in storage iron, were found in relatives with an HLA A11, B27, CW2 haplotype, those with the A3, B14, CW5 haplotype had no detectable abnormalities [6].
  • We also show that NDUFA6 gene silencing induces apoptosis and its overexpression reduces apoptosis in HIV-infected cells [1].
  • The most reactive site in subunit B14 was Tyr122, while the most reactive region in B15 contained 3 closely spaced tyrosines Tyr46, Tyr50, and Tyr51 [7].
  • Among HLA class I genes, A29 (p = 0.001) and B22 (p < 0.0001) are significantly associated with rapid progression, whereas B14 (p = 0.001) and C8 (p = 0.004) are significantly associated with nonprogression [8].
  • A series of murine monoclonal antibodies was used to characterize the surface phenotype of a naturally occurring E+ B14-specific suppressor cell present in the blood of a patient with recurrent superficial bladder carcinomas [9].
 

Chemical compound and disease context of NDUFA6

  • None of the patients had osteitis fibrosa cystica, aluminium intoxication, haemoglobinopathy or haemochromatosis alleles (HLA A3, B7 and B14) [10].
  • One year after surgery, prednisone was withdrawn during one week, and an ACTH test and HLA typing were done, disclosing a 17-OHP response of an heterozygote for adrenal hyperplasia, and identifying B65 a subtype of B14, and DR1, that are frequently associated to adrenal hyperplasia [11].
 

Biological context of NDUFA6

  • HLA-A28 and B14 (in linkage disequilibrium) were significantly increased in frequency and HLA-B12 decreased in the type 2 responders [12].
  • On this basis, about two thirds of B-14-positive individuals are heterozygote carriers for 21-hydroxylase deficiency [13].
  • Vaccinia virus strain Western Reserve protein B14 is an intracellular virulence factor [14].
  • Using electroporation conditions determined in this laboratory, plasmid pDVNR containing the intact DvNIA1 gene has been electroporated into the defective mutant B14 [15].
  • Therefore, B14 is an intracellular protein that is non-essential for virus replication in cell culture but contributes to virus virulence in vivo and affects the host response to infection [14].
 

Anatomical context of NDUFA6

  • In the present report, cytotoxic T lymphocyte (CTL) clones are described that display dual specificity for one of two common human leukocyte antigens (HLA B14 or B35) as alloantigens, and an immunodominant epitope (FLRGRAYGL) from Epstein-Barr virus (EBV) that binds to HLA B8 [16].
  • The serological analysis of 24 HLA antisera, produced by pregnancy alone, containing B14 and up to six additional specificities was carried out on a selected lymphocyte panel of 316 cells [17].
  • A lymphoblastoid cell line (EKS-L44) with definitive HLA specificities (HLA-Aw24, w30, B14, w35, Cw4-, DRw4, 5) was established from peripheral blood cells of a patient with progeria using Epstein-Barr virus [18].
  • Hemochromatosis is a genetic disease related to human leukocyte antigen (HLA) A3, B7, and B14 histocompatability antigens resulting in increased iron absorption from the gastrointestinal tract and deposition of iron in tissues [19].
 

Associations of NDUFA6 with chemical compounds

  • The intergovernmental framework COST B14 action "Hyperbaric Oxygen Therapy" started in 1999 [20].
  • NR activity in these strains was slightly higher than that in the defective B14 cell, but excretion of nitrite into culture media was almost as high as that of the wild-type cell [15].
  • The B14 cDNA codes for a relatively methionine-rich legumin precursor, and the beta-chain of this protein is shown to be glycosylated; neither feature is common in legumin [21].
  • Glycine, which is considered to be a perturbator in an alpha helix, is not only tolerated in the B14 position but is required for full biological potency [22].
  • Estrogen (0.1 and 1.0 nM) stimulated serotonin in the B14 cells in serum free medium [23].
 

Analytical, diagnostic and therapeutic context of NDUFA6

  • As previously described, HLA A3 and HLA B14 antigens appeared more frequently in the IH group (76.3 and 28.9%, respectively) than in a control group of 204 subjects (27 and 3.4%) [24].
  • High responders also had significantly higher prevalence of the "hemochromatosis" alleles A3, B7, and B14 than a large group of dialysis patients awaiting transplantation (71% v 37%, P less than .001) [25].
  • HLA typing of 123 Israel Jews of Russian origin showed a high frequency for HLA--A1, A2, Aw19 and B14, Bw16 and Bw35 of the A and B loci, respectively [26].
  • Serum ferritin in haemodialysis patients: role of blood transfusions and 'haemochromatosis alleles' HLA A3, B7 and B14 [27].
  • We conclude that the risk of developing iron overload is greater in hemodialysis patients with HLA A3, B7 or B14 [28].

References

  1. Mitochondrial complex I activity is impaired during HIV-1-induced T-cell apoptosis. Ladha, J.S., Tripathy, M.K., Mitra, D. Cell Death Differ. (2005) [Pubmed]
  2. Late-onset adrenal hyperplasia in hirsutism. Kuttenn, F., Couillin, P., Girard, F., Billaud, L., Vincens, M., Boucekkine, C., Thalabard, J.C., Maudelonde, T., Spritzer, P., Mowszowicz, I. N. Engl. J. Med. (1985) [Pubmed]
  3. Iron overload complicating sideroblastic anemia--is the gene for hemochromatosis responsible? Barron, R., Grace, N.D., Sherwood, G., Powell, L.W. Gastroenterology (1989) [Pubmed]
  4. HLA-DRB1 donor-recipient mismatch affects the outcome of hepatitis C disease recurrence after liver transplantation. Belli, L.S., Burra, P., Poli, F., Battista Alberti, A., Silini, E., Zavaglia, C., Fagiuoli, S., Prando, D., Espadas de Arias, A., Boninsegna, S., Tinelli, C., Scalamogna, M., de Carlis, L., Pinzello, G. Gastroenterology (2006) [Pubmed]
  5. Characterization of MHC class I restricted cytotoxic T cell responses to tax in HTLV-1 infected patients with neurologic disease. Koenig, S., Woods, R.M., Brewah, Y.A., Newell, A.J., Jones, G.M., Boone, E., Adelsberger, J.W., Baseler, M.W., Robinson, S.M., Jacobson, S. J. Immunol. (1993) [Pubmed]
  6. Histocompatibility antigens as markers of abnormal iron metabolism in patients with idiopathic haemochromatosis and their relatives. Bomford, A., Eddleston, A.L., Kennedy, L.A., Batchelor, J.R., Williams, R. Lancet (1977) [Pubmed]
  7. Oxidative damage to mitochondrial complex I due to peroxynitrite: identification of reactive tyrosines by mass spectrometry. Murray, J., Taylor, S.W., Zhang, B., Ghosh, S.S., Capaldi, R.A. J. Biol. Chem. (2003) [Pubmed]
  8. New class I and II HLA alleles strongly associated with opposite patterns of progression to AIDS. Hendel, H., Caillat-Zucman, S., Lebuanec, H., Carrington, M., O'Brien, S., Andrieu, J.M., Schächter, F., Zagury, D., Rappaport, J., Winkler, C., Nelson, G.W., Zagury, J.F. J. Immunol. (1999) [Pubmed]
  9. The cell surface phenotype of a naturally occurring human suppressor T-cell of restricted specificity: definition by monoclonal antibodies. Brankovan, V., Bean, M.A., Martin, P.J., Hansen, J.A., Sadamoto, K., Takahashi, Y., Akiyama, M. J. Immunol. (1983) [Pubmed]
  10. Erythropoietin treatment in haemodialysis patients with iron overload. el-Reshaid, K., Johny, K.V., Hakim, A., Kamel, H., Sebeta, A., Hourani, H., Kanyike, F.B. Acta Haematol. (1994) [Pubmed]
  11. Virilizing adrenal adenoma and primary amenorrhea in a girl with adrenal hyperplasia. Forsbach, G., Güitrón-Cantú, A., Vázquez-Lara, J., Mota-Morales, M., Díaz-Mendoza, M.L. Arch. Gynecol. Obstet. (2000) [Pubmed]
  12. Genetics and biochemical variability of variants of 21 hydroxylase deficiency. Gordon, M.T., Conway, D.I., Anderson, D.C., Harris, R. J. Med. Genet. (1985) [Pubmed]
  13. Ascertainment of 21-hydroxylase deficiency in individuals with HLA-B14 haplotype. Libber, S.M., Migeon, C.J., Bias, W.B. J. Clin. Endocrinol. Metab. (1985) [Pubmed]
  14. Vaccinia virus strain Western Reserve protein B14 is an intracellular virulence factor. Chen, R.A., Jacobs, N., Smith, G.L. J. Gen. Virol. (2006) [Pubmed]
  15. Functional complementation of a nitrate reductase defective mutant of a green alga Dunaliella viridis by introducing the nitrate reductase gene. Sun, Y., Gao, X., Li, Q., Zhang, Q., Xu, Z. Gene (2006) [Pubmed]
  16. Cross-reactive memory T cells for Epstein-Barr virus augment the alloresponse to common human leukocyte antigens: degenerate recognition of major histocompatibility complex-bound peptide by T cells and its role in alloreactivity. Burrows, S.R., Silins, S.L., Khanna, R., Burrows, J.M., Rischmueller, M., McCluskey, J., Moss, D.J. Eur. J. Immunol. (1997) [Pubmed]
  17. The HLA--B14 cross-reactive group. Darke, C. Tissue Antigens (1980) [Pubmed]
  18. Cell culture studies in progeria. I. Establishment and partial characterization of a lymphoblastoid cell line. Milunsky, A., Tsung, Y.K. Mech. Ageing Dev. (1979) [Pubmed]
  19. Early-onset hemochromatic arthropathy in a patient with idiopathic hypermobility syndrome. Ofluoğlu, D., Gündüz, O.H., Ozaras, N., Kayhan, O. Rheumatol. Int. (2003) [Pubmed]
  20. Hyperbaric oxygen and radiotherapy. Mayer, R., Hamilton-Farrell, M.R., van der Kleij, A.J., Schmutz, J., Granström, G., Sicko, Z., Melamed, Y., Carl, U.M., Hartmann, K.A., Jansen, E.C., Ditri, L., Sminia, P. Strahlentherapie und Onkologie : Organ der Deutschen Röntgengesellschaft ... [et al]. (2005) [Pubmed]
  21. Characterization and evolutionary relationships of Magnolia legumin-encoding cDNAs representing two divergent gene subfamilies. Fischer, H., Haake, V., Horstmann, C., Jensen, U. Eur. J. Biochem. (1995) [Pubmed]
  22. The chemical synthesis of rat relaxin and the unexpectedly high potency of the synthetic hormone in the mouse. Büllesbach, E.E., Schwabe, C. Eur. J. Biochem. (1996) [Pubmed]
  23. Characterization of reproductive steroid receptors and response to estrogen in a rat serotonergic cell line. Bethea, C.L., Lu, N.Z., Reddy, A., Shlaes, T., Streicher, J.M., Whittemore, S.R. J. Neurosci. Methods (2003) [Pubmed]
  24. Idiopathic hemochromatosis and iron overload in alcoholic liver disease: differentiation by HLA phenotype. Simon, M., Bourel, M., Genetet, B., Fauchet, R., Edan, G., Brissot, P. Gastroenterology (1977) [Pubmed]
  25. Iron overload and mobilization in long-term hemodialysis patients. Hakim, R.M., Stivelman, J.C., Schulman, G., Fosburg, M., Wolfe, L., Imber, M.J., Lazarus, J.M. Am. J. Kidney Dis. (1987) [Pubmed]
  26. HLA polymorphism in Israel. 2. Israeli Jews originating from Russia. Brautbar, C., Zamir, R., Efter, T., Gazit, E. Tissue Antigens (1978) [Pubmed]
  27. Serum ferritin in haemodialysis patients: role of blood transfusions and 'haemochromatosis alleles' HLA A3, B7 and B14. Gómez, E., Ortega, F., Peces, R., Gago, E., Marín, R., Alvarez Grande, J. Nephron (1984) [Pubmed]
  28. HLA antigens and serum ferritin in hemodialysis patients. Quereda, C., Teruel, J.L., Lamas, S., Marcén, R., Matesanz, R., Ortuño, J. Nephron (1987) [Pubmed]
 
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