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Best1  -  bestrophin 1

Mus musculus

Synonyms: Bestrophin-1, Bmd, Bmd1, Vitelliform macular dystrophy protein 2 homolog, Vmd2, ...
 
 
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Disease relevance of Best1

  • Mutations in the dystrophin gene are responsible for Duchenne and Becker muscular dystrophy (DMD/BMD) [1].
  • The mice exhibit disordered Ca(2+) homeostasis, including defective intestinal Ca(2+) absorption, increased urinary Ca(2+) excretion, decreased BMD, deficient weight gain, and reduced fertility [2].
  • Moreover, FR167356 was shown to restore BMD of ovariectomized rats caused by the inhibition of bone resorption [3].
  • OBJECTIVE: Vasculogenesis relies on the recruitment of bone marrow-derived endothelial progenitor cells (BMD EPCs) and is stimulated by tissue-level ischemia [4].
  • Absence of significant correlation between BMD response to four-point bending and body weight or bone size suggested that the bone adaptive response was independent of bone size [5].
 

High impact information on Best1

  • As such, chimeraplast-mediated exon skipping has the potential to be used to transform a severe DMD phenotype into a much milder BMD phenotype [6].
  • Any therapeutic modality that could restore the reading frame would have the potential to substantially reduce the severity of the disease by allowing the production of an internally deleted, but partially functional, dystrophin protein as occurs in Becker muscular dystrophy (BMD) [6].
  • These ERG findings differed from those of DMD and BMD patients, especially with regard to amplitude of the b-wave, but make it clear that Dp260 is required for normal electrophysiology [7].
  • Increases in lumbar spine and femoral BMD and in trabecular bone volume were at least as great with OPG as with alendronate, and mechanical indices of femoral bone strength improved only with OPG [8].
  • Conclusions: In SAMP6 mice, Sfrp4 negatively regulates bone formation and decreases BMD through the inhibition of Wnt signaling [9].
 

Chemical compound and disease context of Best1

 

Biological context of Best1

  • Whereas areal BMD, which reflects both cortical and cancellous bone, has been shown to be highly heritable, little is known about the genetic determinants of trabecular bone density and architecture [11].
  • Quantitative trait loci that determine BMD in C57BL/6J and 129S1/SvImJ inbred mice [12].
  • Introduction: Our genome-wide linkage study using SAMP6 and SAMP2 showed a significant quantitative trait locus (QTL) for peak BMD on chromosome (Chr) 13 [9].
  • Although many of these studies investigated the effect of genetics on BMD, basic measures of bone geometry and mechanical integrity may provide a more comprehensive characterization of the genetic effects on bone fragility [13].
  • MATERIALS AND METHODS: BMD was measured using DXA and pQCT at 3 months of age (n = 46-48/genotype) [14].
 

Anatomical context of Best1

  • We previously found that expression of a GRK inhibitor in osteoblasts using transgenic (TG) technologies enhanced bone remodeling, and in turn, increased BMD in 6-week-old TG mice compared with non-TG littermate controls, presumably because of enhanced GPCR function [15].
  • The cortical bone cross-sectional area and the volumetric BMD were highly increased, but the bone marrow was well formed [16].
  • This change was followed 2 weeks later by increased osteoclast number and cortical porosity, reduced trabecular and cortical width, and decreased spinal BMD and vertebral strength [17].
  • Static and dynamic histomorphometry and osteocyte and osteoblast apoptosis by in situ end-labeling (ISEL) were assessed in lumbar vertebra; spinal BMD was measured by DXA; and bone strength was measured by vertebral compression [17].
  • Using a transgenic model of inducible human InhA expression, InhA increased total body bone mineral density, increased bone volume, and improved biomechanical properties at the proximal tibia in intact mice and also prevented the loss of BMD and bone volume and strength associated with gonadectomy at both the spine and proximal tibia [18].
 

Associations of Best1 with chemical compounds

  • In ORX Tfm mice, however, T had less effect on trabecular BMD and no effect on trabecular bone structure [19].
  • Treatment with 5 mg/kg per day or 50 mg/kg per day of melatonin significantly increased bone mineral density (BMD; by 36%, p < 0.005) and bone mass (bone volume per tissue volume [BV/TV] by 49%, p < 0.01, and trabecular thickness [Tb.Th] by 19%, p < 0.05) [20].
  • Mice deficient for all known thyroid hormone receptors, TRalpha1-/-beta-/- mice, display a clear skeletal phenotype characterized by growth retardation, delayed maturation of long bones and decreased trabecular and total bone mineral density (BMD; -14.6 +/- 2.8%, -14.4 +/- 1.5%) [21].
  • In DMD/BMD, prednisone therapeutic effect was associated with reduced MICs and DCs numbers [10].
  • In the present study, chemically synthetic compound of N(1)-benzyl-4-methylbenzene-1,2-diamine (BMD) was discovered to inhibit nitric oxide (NO) production in macrophages RAW 264.7 stimulated with lipopolysaccharide (LPS) or fibronectin as TLR4 activators [22].
 

Analytical, diagnostic and therapeutic context of Best1

  • Studies of dystrophin expression and function have benefited from use of the mdx mouse, an animal model for DMD/BMD [1].
  • The actions of a QTL identified as influencing BMD could therefore be mediated through the generalized actions of growth on body size or muscle mass [23].
  • Bestrophin protein expression in the developing eye was observed by using immunohistochemistry [24].
  • Expression of bestrophin mRNA during ocular development was studied with quantitative PCR [24].
  • RESULTS: Bestrophin mRNA was detected at embryonic day 15 in whole mouse eyes by RT-PCR [24].

References

  1. Differential expression of dystrophin isoforms in strains of mdx mice with different mutations. Im, W.B., Phelps, S.F., Copen, E.H., Adams, E.G., Slightom, J.L., Chamberlain, J.S. Hum. Mol. Genet. (1996) [Pubmed]
  2. Marked disturbance of calcium homeostasis in mice with targeted disruption of the trpv6 calcium channel gene. Bianco, S.D., Peng, J.B., Takanaga, H., Suzuki, Y., Crescenzi, A., Kos, C.H., Zhuang, L., Freeman, M.R., Gouveia, C.H., Wu, J., Luo, H., Mauro, T., Brown, E.M., Hediger, M.A. J. Bone Miner. Res. (2007) [Pubmed]
  3. A vacuolar ATPase inhibitor, FR167356, prevents bone resorption in ovariectomized rats with high potency and specificity: potential for clinical application. Niikura, K., Takeshita, N., Takano, M. J. Bone Miner. Res. (2005) [Pubmed]
  4. The bone marrow-derived endothelial progenitor cell response is impaired in delayed wound healing from ischemia. Bauer, S.M., Goldstein, L.J., Bauer, R.J., Chen, H., Putt, M., Velazquez, O.C. J. Vasc. Surg. (2006) [Pubmed]
  5. Identification of genetic loci that regulate bone adaptive response to mechanical loading in C57BL/6J and C3H/HeJ mice intercross. Kesavan, C., Mohan, S., Srivastava, A.K., Kapoor, S., Wergedal, J.E., Yu, H., Baylink, D.J. Bone (2006) [Pubmed]
  6. Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skipping. Bertoni, C., Lau, C., Rando, T.A. Hum. Mol. Genet. (2003) [Pubmed]
  7. Dp260 disrupted mice revealed prolonged implicit time of the b-wave in ERG and loss of accumulation of beta-dystroglycan in the outer plexiform layer of the retina. Kameya, S., Araki, E., Katsuki, M., Mizota, A., Adachi, E., Nakahara, K., Nonaka, I., Sakuragi, S., Takeda, S., Nabeshima, Y. Hum. Mol. Genet. (1997) [Pubmed]
  8. Co-Treatment of PTH With Osteoprotegerin or Alendronate Increases Its Anabolic Effect on the Skeleton of Oophorectomized Mice. Samadfam, R., Xia, Q., Goltzman, D. J. Bone Miner. Res. (2007) [Pubmed]
  9. Secreted Frizzled-Related Protein 4 Is a Negative Regulator of Peak BMD in SAMP6 Mice. Nakanishi, R., Shimizu, M., Mori, M., Akiyama, H., Okudaira, S., Otsuki, B., Hashimoto, M., Higuchi, K., Hosokawa, M., Tsuboyama, T., Nakamura, T. J. Bone Miner. Res. (2006) [Pubmed]
  10. The effects of glucocorticoid therapy on the inflammatory and dendritic cells in muscular dystrophies. Hussein, M.R., Hamed, S.A., Mostafa, M.G., Abu-Dief, E.E., Kamel, N.F., Kandil, M.R. International journal of experimental pathology (2006) [Pubmed]
  11. Mapping quantitative trait loci for vertebral trabecular bone volume fraction and microarchitecture in mice. Bouxsein, M.L., Uchiyama, T., Rosen, C.J., Shultz, K.L., Donahue, L.R., Turner, C.H., Sen, S., Churchill, G.A., Müller, R., Beamer, W.G. J. Bone Miner. Res. (2004) [Pubmed]
  12. Quantitative trait loci that determine BMD in C57BL/6J and 129S1/SvImJ inbred mice. Ishimori, N., Li, R., Walsh, K.A., Korstanje, R., Rollins, J.A., Petkov, P., Pletcher, M.T., Wiltshire, T., Donahue, L.R., Rosen, C.J., Beamer, W.G., Churchill, G.A., Paigen, B. J. Bone Miner. Res. (2006) [Pubmed]
  13. Quantitative trait loci that modulate femoral mechanical properties in a genetically heterogeneous mouse population. Volkman, S.K., Galecki, A.T., Burke, D.T., Miller, R.A., Goldstein, S.A. J. Bone Miner. Res. (2004) [Pubmed]
  14. Skeletal effects of estrogen are mediated by opposing actions of classical and nonclassical estrogen receptor pathways. Syed, F.A., Mödder, U.I., Fraser, D.G., Spelsberg, T.C., Rosen, C.J., Krust, A., Chambon, P., Jameson, J.L., Khosla, S. J. Bone Miner. Res. (2005) [Pubmed]
  15. Unmasking the osteoinductive effects of a G-protein-coupled receptor (GPCR) kinase (GRK) inhibitor by treatment with PTH(1-34). Wang, L., Quarles, L.D., Spurney, R.F. J. Bone Miner. Res. (2004) [Pubmed]
  16. Type XIII collagen strongly affects bone formation in transgenic mice. Ylönen, R., Kyrönlahti, T., Sund, M., Ilves, M., Lehenkari, P., Tuukkanen, J., Pihlajaniemi, T. J. Bone Miner. Res. (2005) [Pubmed]
  17. Osteocyte apoptosis is induced by weightlessness in mice and precedes osteoclast recruitment and bone loss. Aguirre, J.I., Plotkin, L.I., Stewart, S.A., Weinstein, R.S., Parfitt, A.M., Manolagas, S.C., Bellido, T. J. Bone Miner. Res. (2006) [Pubmed]
  18. Inhibin A is an endocrine stimulator of bone mass and strength. Perrien, D.S., Akel, N.S., Edwards, P.K., Carver, A.A., Bendre, M.S., Swain, F.L., Skinner, R.A., Hogue, W.R., Nicks, K.M., Pierson, T.M., Suva, L.J., Gaddy, D. Endocrinology (2007) [Pubmed]
  19. Role of the androgen receptor in skeletal homeostasis: the androgen-resistant testicular feminized male mouse model. Vandenput, L., Swinnen, J.V., Boonen, S., Van Herck, E., Erben, R.G., Bouillon, R., Vanderschueren, D. J. Bone Miner. Res. (2004) [Pubmed]
  20. Melatonin at pharmacologic doses increases bone mass by suppressing resorption through down-regulation of the RANKL-mediated osteoclast formation and activation. Koyama, H., Nakade, O., Takada, Y., Kaku, T., Lau, K.H. J. Bone Miner. Res. (2002) [Pubmed]
  21. Increased adipogenesis in bone marrow but decreased bone mineral density in mice devoid of thyroid hormone receptors. Kindblom, J.M., Gevers, E.F., Skrtic, S.M., Lindberg, M.K., Göthe, S., Törnell, J., Vennström, B., Ohlsson, C. Bone (2005) [Pubmed]
  22. Anti-inflammatory benzene diamine compound inhibited toll-like receptor 4-mediated inducible nitric oxide synthase expression and nuclear factor-kappa B activation. Kim, B.H., Shin, H.M., Jung, S.H., Yoon, Y.G., Min, K.R., Kim, Y. Biol. Pharm. Bull. (2005) [Pubmed]
  23. Adjusting data to body size: a comparison of methods as applied to quantitative trait loci analysis of musculoskeletal phenotypes. Lang, D.H., Sharkey, N.A., Lionikas, A., Mack, H.A., Larsson, L., Vogler, G.P., Vandenbergh, D.J., Blizard, D.A., Stout, J.T., Stitt, J.P., McClearn, G.E. J. Bone Miner. Res. (2005) [Pubmed]
  24. Expression and localization of bestrophin during normal mouse development. Bakall, B., Marmorstein, L.Y., Hoppe, G., Peachey, N.S., Wadelius, C., Marmorstein, A.D. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]
 
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