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SDHD  -  succinate dehydrogenase complex, subunit D...

Homo sapiens

 
 
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Disease relevance of SDHD

  • Germline SDHD mutations were originally described in hereditary paraganglioma, a dominantly inherited disorder characterized by vascular tumors in the head and the neck, most frequently at the carotid bifurcation [1].
  • Recently, pheochromocytoma susceptibility has been associated with germline SDHD mutations [1].
  • The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway [2].
  • Sixty-one (92 percent) of the patients with mutations were identified solely by molecular testing of VHL, RET, SDHD, and SDHB; these patients had no associated signs and symptoms at presentation [3].
  • Analysis of SDHD can also help to distinguish synchronous primary tumors from abdominal metastases [4].
 

High impact information on SDHD

 

Chemical compound and disease context of SDHD

  • Germline mutations of the three succinate dehydrogenase subunits SDHB, SDHC and SDHD have recently been associated with familial pheochromocytoma and paraganglioma [7].
  • On the basis of the average and maximum activity values per region of interest, standardized uptake value (SUV) normalized for total body weight (TBW), lean body mass (LBM), body surface area (BSA), and blood glucose level (PGL) were evaluated [8].
  • 14 patients had AIDS, three had ARC, two had PGL and one had ITP as a sole manifestation of HIV related disease [9].
  • The early events of activation and cytokine profiles (IL-2, 4, and 6) were studied in lymphocytes of paucibacillary (TT/BT) and multibacillary (BL/LL) leprosy patients after stimulation with PMA/A23187 and Mycobacterium leprae antigen (PGL-1) [10].
  • PGL1 induced a decrease in oxygen free radical production stimulated by mycobacteria (M. leprae, BCG and M. kansasii) or by phorbol myristate acetate, but did not prevent the binding or ingestion of fluorescein-conjugated mycobacteria [11].
 

Biological context of SDHD

 

Anatomical context of SDHD

 

Associations of SDHD with chemical compounds

 

Other interactions of SDHD

 

Analytical, diagnostic and therapeutic context of SDHD

  • Using fine structure genotyping and semiquantitative duplex PCR analysis, we identified an approximately 96-kb deletion spanning SDHD in family 4194 and an approximately 1-kb deletion involving the 5' end of SDHB in family BRZ01 [24].
  • Sequence analysis revealed mutations in SDHD exon 1 in all patients, affecting the initiation codon (M1V) [25].
  • To determine the prevalence and risk factors for colonization with VRE strains at 32 health care facilities in the SDHD region, a prevalence survey and case-control study were performed [26].
  • In addition, these tumors were investigated for p53 and MDM2 protein expression by immunohistochemistry, and the results were compared with clinical data and the presence of SDHD mutations [27].
  • Analysis of the SDHD gene across the INRA-University of Minnesota porcine radiation hybrid panel indicated close linkage with microsatellite marker SW2401, located on SSC9p21 [28].

References

  1. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Astuti, D., Latif, F., Dallol, A., Dahia, P.L., Douglas, F., George, E., Sköldberg, F., Husebye, E.S., Eng, C., Maher, E.R. Am. J. Hum. Genet. (2001) [Pubmed]
  2. The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. Gimenez-Roqueplo, A.P., Favier, J., Rustin, P., Mourad, J.J., Plouin, P.F., Corvol, P., Rötig, A., Jeunemaitre, X. Am. J. Hum. Genet. (2001) [Pubmed]
  3. Germ-line mutations in nonsyndromic pheochromocytoma. Neumann, H.P., Bausch, B., McWhinney, S.R., Bender, B.U., Gimm, O., Franke, G., Schipper, J., Klisch, J., Altehoefer, C., Zerres, K., Januszewicz, A., Eng, C., Smith, W.M., Munk, R., Manz, T., Glaesker, S., Apel, T.W., Treier, M., Reineke, M., Walz, M.K., Hoang-Vu, C., Brauckhoff, M., Klein-Franke, A., Klose, P., Schmidt, H., Maier-Woelfle, M., Peçzkowska, M., Szmigielski, C., Eng, C. N. Engl. J. Med. (2002) [Pubmed]
  4. Clinical characteristics of pheochromocytoma patients with germline mutations in SDHD. Dannenberg, H., van Nederveen, F.H., Abbou, M., Verhofstad, A.A., Komminoth, P., de Krijger, R.R., Dinjens, W.N. J. Clin. Oncol. (2005) [Pubmed]
  5. Role of the cell wall phenolic glycolipid-1 in the peripheral nerve predilection of Mycobacterium leprae. Ng, V., Zanazzi, G., Timpl, R., Talts, J.F., Salzer, J.L., Brennan, P.J., Rambukkana, A. Cell (2000) [Pubmed]
  6. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Baysal, B.E., Ferrell, R.E., Willett-Brozick, J.E., Lawrence, E.C., Myssiorek, D., Bosch, A., van der Mey, A., Taschner, P.E., Rubinstein, W.S., Myers, E.N., Richard, C.W., Cornelisse, C.J., Devilee, P., Devlin, B. Science (2000) [Pubmed]
  7. No mutations but an increased frequency of SDHx polymorphisms in patients with sporadic and familial medullary thyroid carcinoma. Montani, M., Schmitt, A.M., Schmid, S., Locher, T., Saremaslani, P., Heitz, P.U., Komminoth, P., Perren, A. Endocr. Relat. Cancer (2005) [Pubmed]
  8. Three-dimensional clinical PET in lung cancer: validation and practical strategies. Calvo, R., Martí-Climent, J.M., Richter, J.A., Peñuelas, I., Crespo-Jara, A., Villar, L.M., García-Velloso, M.J. J. Nucl. Med. (2000) [Pubmed]
  9. Peripheral blood and bone marrow abnormalities in patients with HIV related disease. Treacy, M., Lai, L., Costello, C., Clark, A. Br. J. Haematol. (1987) [Pubmed]
  10. Alterations in early biochemical events following T cell activation in leprosy patients. Sharma, N., Sharma, V.K., Gupta, A., Kaur, I., Kaur, S., Ganguly, N.K. Clin. Immunol. Immunopathol. (1998) [Pubmed]
  11. Phenolic glycolipid-1 from M. leprae inhibits oxygen free radical production by human mononuclear cells. Launois, P., Blum, L., Dieye, A., Millan, J., Sarthou, J.L., Bach, M.A. Res. Immunol. (1989) [Pubmed]
  12. SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology. Douwes Dekker, P.B., Hogendoorn, P.C., Kuipers-Dijkshoorn, N., Prins, F.A., van Duinen, S.G., Taschner, P.E., van der Mey, A.G., Cornelisse, C.J. J. Pathol. (2003) [Pubmed]
  13. Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma. Cascon, A., Ruiz-Llorente, S., Cebrian, A., Telleria, D., Rivero, J.C., Diez, J.J., Lopez-Ibarra, P.J., Jaunsolo, M.A., Benitez, J., Robledo, M. Eur. J. Hum. Genet. (2002) [Pubmed]
  14. Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23. Hirawake, H., Taniwaki, M., Tamura, A., Kojima, S., Kita, K. Cytogenet. Cell Genet. (1997) [Pubmed]
  15. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Gimenez-Roqueplo, A.P., Favier, J., Rustin, P., Rieubland, C., Crespin, M., Nau, V., Khau Van Kien, P., Corvol, P., Plouin, P.F., Jeunemaitre, X. Cancer Res. (2003) [Pubmed]
  16. Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families. Hensen, E.F., Jordanova, E.S., van Minderhout, I.J., Hogendoorn, P.C., Taschner, P.E., van der Mey, A.G., Devilee, P., Cornelisse, C.J. Oncogene (2004) [Pubmed]
  17. Carotid body paraganglioma and SDHD mutation in a Greek family. Liapis, C.D., Bellos, J.K., Halapas, A., Lembessis, P., Koutsilieris, M., Kostakis, A. Anticancer Res. (2005) [Pubmed]
  18. SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas. Mhatre, A.N., Li, Y., Feng, L., Gasperin, A., Lalwani, A.K. Clin. Genet. (2004) [Pubmed]
  19. Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect? Lee, S.C., Chionh, S.B., Chong, S.M., Taschner, P.E. Laryngoscope (2003) [Pubmed]
  20. Phenolic glycolipid-1 of Mycobacterium leprae binds complement component C3 in serum and mediates phagocytosis by human monocytes. Schlesinger, L.S., Horwitz, M.A. J. Exp. Med. (1991) [Pubmed]
  21. The pressure rises: update on the genetics of phaeochromocytoma. Maher, E.R., Eng, C. Hum. Mol. Genet. (2002) [Pubmed]
  22. SDHC mutations in hereditary paraganglioma/pheochromocytoma. Müller, U., Troidl, C., Niemann, S. Fam. Cancer (2005) [Pubmed]
  23. Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas. Benn, D.E., Croxson, M.S., Tucker, K., Bambach, C.P., Richardson, A.L., Delbridge, L., Pullan, P.T., Hammond, J., Marsh, D.J., Robinson, B.G. Oncogene (2003) [Pubmed]
  24. Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma. McWhinney, S.R., Pilarski, R.T., Forrester, S.R., Schneider, M.C., Sarquis, M.M., Dias, E.P., Eng, C. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
  25. Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. Riemann, K., Sotlar, K., Kupka, S., Braun, S., Zenner, H.P., Preyer, S., Pfister, M., Pusch, C.M., Blin, N. Cancer Genet. Cytogenet. (2004) [Pubmed]
  26. Regional dissemination of vancomycin-resistant enterococci resulting from interfacility transfer of colonized patients. Trick, W.E., Kuehnert, M.J., Quirk, S.B., Arduino, M.J., Aguero, S.M., Carson, L.A., Hill, B.C., Banerjee, S.N., Jarvis, W.R. J. Infect. Dis. (1999) [Pubmed]
  27. p53 alterations and their relationship to SDHD mutations in parasympathetic paragangliomas. van Nederveen, F.H., Dannenberg, H., Sleddens, H.F., de Krijger, R.R., Dinjens, W.N. Mod. Pathol. (2003) [Pubmed]
  28. Cloning, mapping and association study with carcass traits of the porcine SDHD gene. Zhu, Z.M., Zhang, J.B., Li, K., Zhao, S.H. Anim. Genet. (2005) [Pubmed]
 
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