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DYM  -  dymeclin

Homo sapiens

 
 
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Disease relevance of DYM

 

Psychiatry related information on DYM

  • However, patients with DMC exhibit significant developmental delay and mental retardation, the major features that distinguish the two conditions [1].
  • Distinct patterns of Fos distribution were obtained following the freezing and escape reactions induced by MT injections of SMC and BIC, respectively [6].
 

High impact information on DYM

  • The ABCs of SMC proteins: two-armed ATPases for chromosome condensation, cohesion, and repair [7].
  • SMC proteins are involved in chromosome condensation, sister-chromatid cohesion, sex-chromosome dosage compensation, genetic recombination and DNA repair [8].
  • PPARalpha is a nuclear receptor controlling lipid metabolism and inflammation, but its role in the regulation of SMC growth remains to be established [3].
  • TIMP-3 overexpression induced DNA synthesis, and promoted SMC death by apoptosis, a phenotype reproduced by adding TIMP-3 to uninfected cells, but not by a synthetic MMP inhibitor [9].
  • We propose that Rad50, an SMC-like protein, promotes the use of the sister chromatid as the template for homologous recombinational repair [10].
 

Chemical compound and disease context of DYM

 

Biological context of DYM

  • Linkage studies localized the SMC and DMC disease genes to chromosome 18q12-21.1, providing evidence suggesting that they are allelic disorders [1].
  • The affected individuals in two consanguinous DMC families were homozygous for a stop codon mutation and a frameshift mutation, respectively, demonstrating that DMC represents the FLJ90130-null phenotype [1].
  • Sequence analysis of the coding exons of the FLJ90130 gene, a highly evolutionarily conserved gene within the recombination interval defined in the linkage study, identified mutations in SMC and DMC patients [1].
  • The radiographic features and cartilage histology in DMC and SMC are identical [1].
  • Most mutations identified in DMC predict a loss of function, while those identified in SMC are mainly missense mutations, presumably associated with residual DYM activity and a less severe phenotype [16].
 

Anatomical context of DYM

  • The DMC gene transcript is widely distributed but appears abundant in chondrocytes and fetal brain [17].
  • Electron microscopy of chondrocytes have shown widened cisternae of rough endoplasmic reticulum and biochemical analyses have shown accumulation of glucosaminoglycan in cartilage, but the pathogenesis of DMC remains unexplained [2].
  • BACKGROUND:Smooth muscle cell (SMC) replication plays a central role in the pathogenesis of transplant arteriosclerosis [18].
  • An interaction between the two principal populations of mesodermal cells in the sea urchin embryo, primary and secondary mesenchyme cells (PMCs and SMCs, respectively), regulates SMC fates and the process of skeletogenesis [19].
  • However, in several passaged VSMC lines (i.e. bovine aortic SMC, human aortic SMC, and A7r5 cells), PKG protein expression was not suppressed by cytokines or NO. sGC was highly expressed in non-passaged bovine aortic SMC but not in passaged cell lines [20].
 

Associations of DYM with chemical compounds

  • In vivo expression of 5-HTT by PA-SMC may play a key role in serotonin-mediated pulmonary vascular remodeling [5].
  • Celecoxib at both doses and DMC at 100 mg/kg had marginal impacts [21].
  • We now demonstrate that mildly oxidized LDL generated by incubation with oxygen radical-producing xanthine/xanthine oxidase (X/XO) induces apoptosis in primary cultures of human coronary endothelial and SMC, as determined by TUNEL technique, DNA laddering, and FACS analysis [22].
  • DNA synthesis and cholesterol synthesis by Hep G2 cells were inhibited by Pc SMC-conditioned medium [23].
  • These results suggest that the chemotactic gradient by IL-8 is established between arterial intima and media in response to high glucose levels in diabetic patients, and that it may be one of the key factors for SMC migration to the intima leading to diabetic macroangiopathy [24].
 

Other interactions of DYM

 

Analytical, diagnostic and therapeutic context of DYM

  • However, based on the higher risk of relapse, patients with no contraindications for SMC should not receive RIC outside of prospective randomized trials, which are needed to establish the position of RIC-based transplantation in the treatment of patients with MDS [29].
  • Analysis of the tumor samples indicates that a differential reduction in the phospho-Akt/Akt ratio was noted in celecoxib- and DMC-treated groups vis-à-vis the control group [21].
  • However, a correlation exists between the in vitro potency of DMC and its ability at 200 mg/kg to inhibit xenograft tumor growth through the inhibition of Akt activation [21].
  • RESULTS: Use of the urgent care/emergency room and hospitalizations during the intervention year and the year prior were available for 331 patients who completed the DMCP intervention [30].
  • Polymerase chain reaction (PCR) amplification of the highly polymorphic human androgen receptor gene (HUMARA) was performed on the DNA extracted from the paraffin-embedded lesional tissue microdissected to sample the admixed smooth muscle and blood vessel component (SMC/BV) and the adipose tissue component [31].

References

  1. Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. Cohn, D.H., Ehtesham, N., Krakow, D., Unger, S., Shanske, A., Reinker, K., Powell, B.R., Rimoin, D.L. Am. J. Hum. Genet. (2003) [Pubmed]
  2. Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1. Thauvin-Robinet, C., El Ghouzzi, V., Chemaitilly, W., Dagoneau, N., Boute, O., Viot, G., Mégarbané, A., Sefiani, A., Munnich, A., Le Merrer, M., Cormier-Daire, V. J. Med. Genet. (2002) [Pubmed]
  3. PPAR alpha inhibits vascular smooth muscle cell proliferation underlying intimal hyperplasia by inducing the tumor suppressor p16INK4a. Gizard, F., Amant, C., Barbier, O., Bellosta, S., Robillard, R., Percevault, F., Sevestre, H., Krimpenfort, P., Corsini, A., Rochette, J., Glineur, C., Fruchart, J.C., Torpier, G., Staels, B. J. Clin. Invest. (2005) [Pubmed]
  4. The Dyggve-Melchior-Clausen syndrome. Naffah, J. Am. J. Hum. Genet. (1976) [Pubmed]
  5. Induction of serotonin transporter by hypoxia in pulmonary vascular smooth muscle cells. Relationship with the mitogenic action of serotonin. Eddahibi, S., Fabre, V., Boni, C., Martres, M.P., Raffestin, B., Hamon, M., Adnot, S. Circ. Res. (1999) [Pubmed]
  6. Gabaergic regulation of the neural organization of fear in the midbrain tectum. Brandão, M.L., Borelli, K.G., Nobre, M.J., Santos, J.M., Albrechet-Souza, L., Oliveira, A.R., Martinez, R.C. Neuroscience and biobehavioral reviews. (2005) [Pubmed]
  7. The ABCs of SMC proteins: two-armed ATPases for chromosome condensation, cohesion, and repair. Hirano, T. Genes Dev. (2002) [Pubmed]
  8. SMC proteins and chromosome structure. Strunnikov, A.V. Trends Cell Biol. (1998) [Pubmed]
  9. Divergent effects of tissue inhibitor of metalloproteinase-1, -2, or -3 overexpression on rat vascular smooth muscle cell invasion, proliferation, and death in vitro. TIMP-3 promotes apoptosis. Baker, A.H., Zaltsman, A.B., George, S.J., Newby, A.C. J. Clin. Invest. (1998) [Pubmed]
  10. Fission yeast Rad50 stimulates sister chromatid recombination and links cohesion with repair. Hartsuiker, E., Vaessen, E., Carr, A.M., Kohli, J. EMBO J. (2001) [Pubmed]
  11. Persistence of host-type hematopoiesis after allogeneic bone marrow transplantation for leukemia is significantly related to the recipient's age and/or the conditioning regimen, but it is not associated with an increased risk of relapse. van Leeuwen, J.E., van Tol, M.J., Joosten, A.M., Wijnen, J.T., Verweij, P.J., Khan, P.M., Vossen, J.M. Blood (1994) [Pubmed]
  12. Regulation of the procoagulant response to arterial injury. Taubman, M.B., Giesen, P.L., Schecter, A.D., Nemerson, Y. Thromb. Haemost. (1999) [Pubmed]
  13. The Dyggve-Melchior-Clausen syndrome. Spranger, J., Maroteaux, P., Der Kaloustian, V.M. Radiology. (1975) [Pubmed]
  14. Retroviral synthetic peptide serum antibodies in human sporadic amyotrophic lateral sclerosis. Westarp, M.E., Föring, B., Rasmussen, H., Schraff, S., Mertens, T., Kornhuber, H.H. Peptides (1994) [Pubmed]
  15. Simultaneous detection of NOS-3 protein expression and nitric oxide production using a flow cytometer. Havenga, M.J., van Dam, B., Groot, B.S., Grimbergen, J.M., Valerio, D., Bout, A., Quax, P.H. Anal. Biochem. (2001) [Pubmed]
  16. Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia. Neumann, L.M., Ghouzzi, V.E., Paupe, V., Weber, H.P., Fastnacht, E., Leenen, A., Lyding, S., Klusmann, A., Mayatepek, E., Pelz, J., Cormier-Daire, V. Am. J. Med. Genet. A (2006) [Pubmed]
  17. Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. El Ghouzzi, V., Dagoneau, N., Kinning, E., Thauvin-Robinet, C., Chemaitilly, W., Prost-Squarcioni, C., Al-Gazali, L.I., Verloes, A., Le Merrer, M., Munnich, A., Trembath, R.C., Cormier-Daire, V. Hum. Mol. Genet. (2003) [Pubmed]
  18. Graft permeabilization facilitates gene therapy of transplant arteriosclerosis in a rabbit model. Rekhter, M.D., Shah, N., Simari, R.D., Work, C., Kim, J.S., Nabel, G.J., Nabel, E.G., Gordon, D. Circulation (1998) [Pubmed]
  19. Mesodermal cell interactions in the sea urchin embryo: properties of skeletogenic secondary mesenchyme cells. Ettensohn, C.A., Ruffins, S.W. Development (1993) [Pubmed]
  20. Regulation of cGMP-dependent protein kinase expression by soluble guanylyl cyclase in vascular smooth muscle cells. Browner, N.C., Dey, N.B., Bloch, K.D., Lincoln, T.M. J. Biol. Chem. (2004) [Pubmed]
  21. 3-phosphoinositide-dependent protein kinase-1/Akt signaling represents a major cyclooxygenase-2-independent target for celecoxib in prostate cancer cells. Kulp, S.K., Yang, Y.T., Hung, C.C., Chen, K.F., Lai, J.P., Tseng, P.H., Fowble, J.W., Ward, P.J., Chen, C.S. Cancer Res. (2004) [Pubmed]
  22. Mildly oxidized low density lipoprotein activates multiple apoptotic signaling pathways in human coronary cells. Napoli, C., Quehenberger, O., De Nigris, F., Abete, P., Glass, C.K., Palinski, W. FASEB J. (2000) [Pubmed]
  23. Porcine smooth muscle cell-conditioned medium stimulates LDL receptor activity in Hep G2 cells. Moorby, C.D., Gherardi, E., Riddell, D., Bowyer, D.E. J. Cell. Sci. (1992) [Pubmed]
  24. High glucose enhances the gene expression of interleukin-8 in human endothelial cells, but not in smooth muscle cells: possible role of interleukin-8 in diabetic macroangiopathy. Temaru, R., Urakaze, M., Satou, A., Yamazaki, K., Nakamura, N., Kobayashi, M. Diabetologia (1997) [Pubmed]
  25. Substrate phosphorylation capacities of the major tyrosine protein kinase from the human promyelocytic cell line, HL-60. Ernould, A.P., Ferry, G., Barret, J.M., Genton, A., Boutin, J.A. Int. J. Pept. Protein Res. (1994) [Pubmed]
  26. Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. Geneviève, D., Héron, D., El Ghouzzi, V., Prost-Squarcioni, C., Le Merrer, M., Jacquette, A., Sanlaville, D., Pinton, F., Villeneuve, N., Kalifa, G., Munnich, A., Cormier-Daire, V. Eur. J. Hum. Genet. (2005) [Pubmed]
  27. Dyggve-Melchior-Clausen syndrome: normal degradation of proteodermatan sulfate, proteokeratan sulfate and heparan sulfate. Beck, M., Lücke, R., Kresse, H. Clin. Chim. Acta (1984) [Pubmed]
  28. Abnormal serum alpha 2-macroglobulin in Dyggve-Melchior-Clausen syndrome. Rastogi, S.C., Clausen, J., Melchior, J.C., Dyggve, H.V. J. Clin. Chem. Clin. Biochem. (1980) [Pubmed]
  29. Retrospective comparison of reduced-intensity conditioning and conventional high-dose conditioning for allogeneic hematopoietic stem cell transplantation using HLA-identical sibling donors in myelodysplastic syndromes. Martino, R., Iacobelli, S., Brand, R., Jansen, T., van Biezen, A., Finke, J., Bacigalupo, A., Beelen, D., Reiffers, J., Devergie, A., Alessandrino, E., Mufti, G.J., Barge, R., Sierra, J., Ruutu, T., Boogaerts, M., Falda, M., Jouet, J.P., Niederwieser, D., de Witte, T. Blood (2006) [Pubmed]
  30. Effect of a nurse-directed diabetes disease management program on urgent care/emergency room visits and hospitalizations in a minority population. Davidson, M.B., Ansari, A., Karlan, V.J. Diabetes Care (2007) [Pubmed]
  31. Molecular analysis of clonality of sporadic angiomyolipoma. Saxena, A., Alport, E.C., Custead, S., Skinnider, L.F. J. Pathol. (1999) [Pubmed]
 
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