Journal of mucopolysaccharidosis and rare diseases

  • 제2권2호
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  • Pages.38-40
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  • 2016
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  • 2465-8936(pISSN)
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  • 2465-9452(eISSN)
뮤코다당증연구학회 (Association for Research of MPS and Rare Diseases)
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Gene Expression Related to Cognitive Function in Growth Hormone-treated Mice with Prader-Willi Syndrome

  • Ko, Ah-Ra (Research Institute for Future Medicine, Samsung Biomedical Research Institute)
  • 투고 : 2016.11.30
  • 심사 : 2016.12.13
  • 발행 : 2016.12.31
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초록

Prader-Willi syndrome (PWS) is a rare genetic disorder often caused by a deletion of the chromosome 15q11-q13 region inherited from the father or by maternal disomy 15. Growth hormone deficiency with short stature, hypogonadism, cognitive and behavioral problems, analgesia, decreased gastric motility and decreased ability to vomit with hyperphagia are common in PWS leading to severe obesity in early childhood, if not controlled. The goal of this study is to investigate the effects of recombinant human GH (rhGH, henceforth designated GH) on the gene expression related to cognitive function in the brain of PWS mouse model (Snord116del). GH restored the mRNA expression level of several genes in the cerebellum. These data suggest the effect of GH on the expression of cognitive function related genes in cerebellum may provide a mechanism for the GH-induced brain function in PWS patients.

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참고문헌

  1. Cassidy SB. Prader-Willi syndrome. J Med Genet 1997;34:917-23. https://doi.org/10.1136/jmg.34.11.917
  2. Swaab DF, Purba JS, Hofman MA. Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons (putative satiety cells) in Prader-Willi syndrome: a study of five cases. J Clin Endocrinol Metab 1995;80:573-9.
  3. Hoybye C, Thoren M, Bohm B. Cognitive, emotional, physical and social effects of growth hormone treatment in adults with Prader-Willi syndrome. J Intellect Disabil Res 2005;49:245-52. https://doi.org/10.1111/j.1365-2788.2005.00641.x
  4. Myers SE, Whitman BY, Carrel AL, Moerchen V, Bekx MT, Allen DB. Two years of growth hormone therapy in young children with Prader-Willi syndrome: physical and neurodevelopmental benefits. Am J Med Genet A 2007;143A:443-8. https://doi.org/10.1002/ajmg.a.31468
  5. Sonntag WE, Ramsey M, Carter CS. Growth hormone and insulin-like growth factor-1 (IGF-1) and their influence on cognitive aging. Ageing Res Rev 2005;4:195-212. https://doi.org/10.1016/j.arr.2005.02.001
  6. Chen DY, Stern SA, Garcia-Osta A, Saunier-Rebori B, Pollonini G, Bambah-Mukku D, et al. A critical role for IGFII in memory consolidation and enhancement. Nature 2011;469:491-7. https://doi.org/10.1038/nature09667
  7. Nyberg F, Burman P. Growth hormone and its receptors in the central nervous system--location and functional significance. Horm Res 1996;45:18-22.
  8. Pan W, Yu Y, Cain CM, Nyberg F, Couraud PO, Kastin AJ. Permeation of growth hormone across the blood-brain barrier. Endocrinology 2005;146:4898-904. https://doi.org/10.1210/en.2005-0587
  9. Jones KA, Borowsky B, Tamm JA, Craig DA, Durkin MM, Dai M, et al. GABA(B) receptors function as a heteromeric assembly of the subunits GABA(B)R1 and GABA(B)R2. Nature 1998;396:674-9. https://doi.org/10.1038/25348
  10. Goudet C, Magnaghi V, Landry M, Nagy F, Gereau RW 4th, Pin JP. Metabotropic receptors for glutamate and GABA in pain. Brain Res Rev 2009;60:43-56. https://doi.org/10.1016/j.brainresrev.2008.12.007
  11. Benarroch EE. GABAB receptors: structure, functions, and clinical implications. Neurology 2012;78:578-84. https://doi.org/10.1212/WNL.0b013e318247cd03
  12. Gronbladh A, Johansson J, Nyberg F, Hallberg M. Recombinant human growth hormone affects the density and functionality of GABAB receptors in the male rat brain. Neuroendocrinology 2013;97:203-11. https://doi.org/10.1159/000339821
  13. Walser M, Hansen A, Svensson PA, Jernas M, Oscarsson J, Isgaard J, et al. Peripheral administration of bovine GH regulates the expression of cerebrocortical beta-globin, GABAB receptor 1, and the Lissencephaly-1 protein (LIS-1) in adult hypophysectomized rats. Growth Horm IGF Res 2011;21:16-24. https://doi.org/10.1016/j.ghir.2010.11.002
  14. Aberg ND, Carlsson B, Rosengren L, Oscarsson J, Isaksson OG, Ronnback L, et al. Growth hormone increases connexin-43 expression in the cerebral cortex and hypothalamus. Endocrinology 2000;141:3879-86. https://doi.org/10.1210/endo.141.10.7731
  15. Aramburo C, Alba-Betancourt C, Luna M, Harvey S. Expression and function of growth hormone in the nervous system: a brief review. Gen Comp Endocrinol 2014;203:35-42. https://doi.org/10.1016/j.ygcen.2014.04.035