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International Journal of Endocrinology
Volume 2013, Article ID 259189, 8 pages
http://dx.doi.org/10.1155/2013/259189
Research Article

Transient Neonatal Zinc Deficiency Caused by a Heterozygous G87R Mutation in the Zinc Transporter ZnT-2 (SLC30A2) Gene in the Mother Highlighting the Importance of Zn2+ for Normal Growth and Development

1Division of Paediatric Endocrinology, Diabetology and Metabolism and Department of Clinical Research, University Children’s Hospital, Inselspital, 3010 Bern, Switzerland
2Department of Dermatology, University of Bern, 3010 Bern, Switzerland

Received 12 June 2013; Revised 7 August 2013; Accepted 22 August 2013

Academic Editor: Fabio Buzi

Copyright © 2013 Maria Consolata Miletta et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. V. H. Moran, A. L. Stammers, M. W. Medina et al., “The relationship between zinc intake and serum/plasma zinc concentration in children: a systematic review and dose-response meta-analysis,” Nutrients, vol. 4, pp. 841–858, 2012. View at Google Scholar
  2. A. S. Prasad, “Zinc deficiency,” British Medical Journal, vol. 326, no. 7386, pp. 409–410, 2003. View at Google Scholar · View at Scopus
  3. R. T. Hamza, A. I. Hamed, and M. T. Sallam, “Effect of zinc supplementation on growth hormone-insulin growth factor axis in short egyptian children with zinc deficiency,” Italian Journal of Pediatrics, vol. 38, article 21, 2012. View at Google Scholar
  4. S. Villalpando, A. García-Guerra, C. I. Ramírez-Silva et al., “Iron, zinc and iodide status in Mexican children under 12 years and women 12–49 years of age. A probabilistic national survey,” Salud Publica de Mexico, vol. 45, no. 4, pp. 520–529, 2003. View at Google Scholar · View at Scopus
  5. WHO, Workshop to review the results of the studies evaluating the impact of zinc supplement on childhood mortality and severe morbidity, http://www.who.int/maternal_child_adolescent/documents/zinc_mortality/en/.
  6. J. G. Dórea, “Zinc deficiency in nursing infants,” Journal of the American College of Nutrition, vol. 21, no. 2, pp. 84–87, 2002. View at Google Scholar · View at Scopus
  7. P. J. Aggett, D. J. Atherton, and J. More, “Symptomatic zinc deficiency in a breast-fed, preterm infant,” Archives of Disease in Childhood, vol. 55, no. 7, pp. 547–550, 1980. View at Google Scholar · View at Scopus
  8. P. H. Parker, G. L. Helinek, and R. L. Meneely, “Zinc deficiency in a premature infant fed exclusively human milk,” American Journal of Diseases of Children, vol. 136, no. 1, pp. 77–78, 1982. View at Google Scholar · View at Scopus
  9. A. W. Zimmerman, K. M. Hambidge, and M. L. Lepow, “Acrodermatitis in breast-fed premature infants: evidence for a defect of mammary zinc secretion,” Pediatrics, vol. 69, no. 2, pp. 176–183, 1982. View at Google Scholar · View at Scopus
  10. I. Lasry, Y. A. Seo, H. Ityel et al., “A dominant negative heterozygous G87R mutation in the zinc transporter, znt-2 (slc30a2), results in transient neonatal zinc deficiency,” The Journal of Biological Chemistry, vol. 287, pp. 29348–29361, 2012. View at Google Scholar
  11. W. Chowanadisai, B. Lönnerdal, and S. L. Kelleher, “Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency,” The Journal of Biological Chemistry, vol. 281, no. 51, pp. 39699–39707, 2006. View at Publisher · View at Google Scholar · View at Scopus
  12. K. Wang, B. Zhou, Y. Kuo, J. Zemansky, and J. Gitschier, “A novel member of a zinc transporter family is defective in acrodermatitis enteropathica,” American Journal of Human Genetics, vol. 71, no. 1, pp. 66–73, 2002. View at Publisher · View at Google Scholar · View at Scopus
  13. S. Küry, B. Dréno, S. Bézieau et al., “Identification of SLC39A4, a gene involved in acrodermatitis enteropathica,” Nature Genetics, vol. 31, no. 3, pp. 239–240, 2002. View at Publisher · View at Google Scholar · View at Scopus
  14. P. J. Aggett, “Acrodermatitis enteropathica,” Journal of Inherited Metabolic Disease, vol. 6, supplement 1, pp. 39–43, 1983. View at Google Scholar · View at Scopus
  15. A. Prader, R. H. Largo, L. Molinari, and C. Issler, “Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development,” Helvetica Paediatrica Acta. Supplementum, vol. 52, pp. 1–125, 1989. View at Google Scholar · View at Scopus
  16. K. Inoue, K. Matsuda, M. Itoh et al., “Osteopenia and male-specific sudden cardiac death in mice lacking a zinc transporter gene, Znt5,” Human Molecular Genetics, vol. 11, no. 15, pp. 1775–1784, 2002. View at Google Scholar · View at Scopus
  17. N. Kawakami, N. Sakane, F. Nishizawa et al., “Green fluorescent protein-transgenic mice: immune functions and their application to studies of lymphocyte development,” Immunology Letters, vol. 70, no. 3, pp. 165–171, 1999. View at Publisher · View at Google Scholar · View at Scopus
  18. C. Magoulas, L. Mcguinness, N. Balthasar et al., “A secreted fluorescent reporter targeted to pituitary growth hormone cells in transgenic mice,” Endocrinology, vol. 141, no. 12, pp. 4681–4689, 2000. View at Publisher · View at Google Scholar · View at Scopus
  19. L. McGuinness, C. Magoulas, A. K. Sesay et al., “Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice,” Endocrinology, vol. 144, no. 2, pp. 720–731, 2003. View at Publisher · View at Google Scholar · View at Scopus
  20. S. Bhatnagar and S. Taneja, “Zinc and cognitive development,” British Journal of Nutrition, vol. 85, supplement 2, pp. S139–S145, 2001. View at Google Scholar · View at Scopus
  21. D.-Y. Lee, N. F. Shay, and R. J. Cousins, “Altered zinc metabolism occurs in murine lethal milk syndrome,” Journal of Nutrition, vol. 122, no. 11, pp. 2233–2238, 1992. View at Google Scholar · View at Scopus
  22. E. J. Moynahan, “Letter: acrodermatitis enteropathica: a lethal inherited human zinc-deficiency disorder,” The Lancet, vol. 2, no. 7877, pp. 399–400, 1974. View at Google Scholar · View at Scopus
  23. K. H. Neldner and K. M. Hambidge, “Zinc therapy of acrodermatitis enteropathica,” The New England Journal of Medicine, vol. 292, no. 17, pp. 879–882, 1975. View at Google Scholar · View at Scopus
  24. L. Huang and J. Gitschier, “A novel gene involved in zinc transport is deficient in the lethal milk mouse,” Nature Genetics, vol. 17, no. 3, pp. 292–297, 1997. View at Publisher · View at Google Scholar · View at Scopus
  25. A. Michalczyk, G. Varigos, A. Catto-Smith, R. C. Blomeley, and M. L. Ackland, “Analysis of zinc transporter, hZnT4 (SIc30A4), gene expression in a mammary gland disorder leading to reduced zinc secretion into milk,” Human Genetics, vol. 113, no. 3, pp. 202–210, 2003. View at Publisher · View at Google Scholar · View at Scopus
  26. S. L. Kelleher and B. Lönnerdal, “Zn transporter levels and localization change throughout lactation in rat mammary gland and are regulated by zn in mammary cells,” Journal of Nutrition, vol. 133, no. 11, pp. 3378–3385, 2003. View at Google Scholar · View at Scopus
  27. S. L. Kelleher and B. Lönnerdal, “Zip3 plays a major role in zinc uptake into mammary epithelial cells and is regulated by prolactin,” American Journal of Physiology—Cell Physiology, vol. 288, no. 5, pp. C1042–C1047, 2005. View at Publisher · View at Google Scholar · View at Scopus
  28. V. Petkovic, M. C. Miletta, and P. E. Mullis, “From endoplasmic reticulum to secretory granules: role of zinc in the secretory pathway of growth hormone,” Endocrine Development, vol. 23, pp. 96–108, 2012. View at Google Scholar
  29. P. S. Dannies, “Mechanisms for storage of prolactin and growth hormone in secretory granules,” Molecular Genetics and Metabolism, vol. 76, no. 1, pp. 6–13, 2002. View at Publisher · View at Google Scholar · View at Scopus
  30. S. A. Tooze, G. J. M. Martens, and W. B. Huttner, “Secretory granule biogenesis: rafting to the SNARE,” Trends in Cell Biology, vol. 11, no. 3, pp. 116–122, 2001. View at Publisher · View at Google Scholar · View at Scopus
  31. R. S. MacDonald, “The role of zinc in growth and cell proliferation,” Journal of Nutrition, vol. 130, pp. 1500S–1508S, 2000. View at Google Scholar · View at Scopus
  32. P. J. Fraker, L. E. King, T. Laakko, and T. L. Vollmer, “The dynamic link between the integrity of the immune system and zinc status,” Journal of Nutrition, vol. 130, pp. 1399S–1406S, 2000. View at Google Scholar · View at Scopus
  33. J. Apgar, “Effect of zinc deficiency on parturition in the rat,” The American Journal of Physiology, vol. 215, no. 1, pp. 160–163, 1968. View at Google Scholar · View at Scopus
  34. L. S. Hurley and P. B. Mutch, “Prenatal and postnatal development after transitory gestational zinc deficiency in rats,” Journal of Nutrition, vol. 103, no. 5, pp. 649–656, 1973. View at Google Scholar · View at Scopus
  35. L. A. Lichten and R. J. Cousins, “Mammalian zinc transporters: nutritional and physiologic regulation,” Annual Review of Nutrition, vol. 29, pp. 153–176, 2009. View at Publisher · View at Google Scholar · View at Scopus
  36. I. Sekler, S. L. Sensi, M. Hershfinkel, and W. F. Silverman, “Mechanism and regulation of cellular zinc transport,” Molecular Medicine, vol. 13, no. 7-8, pp. 337–343, 2007. View at Publisher · View at Google Scholar · View at Scopus
  37. O. Thorlacius-Ussing, “Zinc in the anterior pituitary of rat: a histochemical and analytical work,” Neuroendocrinology, vol. 45, no. 3, pp. 233–242, 1987. View at Google Scholar · View at Scopus
  38. P. S. Dannies, “Prolactin and growth hormone aggregates in secretory granules: the need to understand the structure of the aggregate,” Endocrine Reviews, vol. 33, pp. 254–270, 2012. View at Google Scholar
  39. M. M. Wu, M. Grabe, S. Adams, R. Y. Tsien, H. H. Moore, and T. E. Machen, “Mechanisms of pH regulation in the regulated secretory pathway,” The Journal of Biological Chemistry, vol. 276, no. 35, pp. 33027–33035, 2001. View at Publisher · View at Google Scholar · View at Scopus
  40. B. Sankoorikal, Y. L. Zhu, M. E. Hodsdon, E. Lolis, and P. S. Dannies, “Aggregation of human wild-type and H27A-prolactin in cells and in solution: roles of Zn2+, Cu2+, and pH,” Endocrinology, vol. 143, no. 4, pp. 1302–1309, 2002. View at Publisher · View at Google Scholar · View at Scopus
  41. B. C. Cunningham, M. G. Mulkerrin, and J. A. Wells, “Dimerization of human growth hormone by zinc,” Science, vol. 253, no. 5019, pp. 545–548, 1991. View at Google Scholar · View at Scopus
  42. D. I. Iliev, N. E. Wittekindt, M. B. Ranke, and G. Binder, “In vitro analysis of hGH secretion in the presence of mutations of amino acids involved in zinc binding,” Journal of Molecular Endocrinology, vol. 39, no. 1-2, pp. 163–167, 2007. View at Publisher · View at Google Scholar · View at Scopus
  43. Z. Sun, P. S. Li, P. S. Dannies, and J. C. Lee, “Properties of human prolactin (prl) and h27a-prl, a mutant that does not bind Zn++,” Molecular Endocrinology, vol. 10, no. 3, pp. 265–271, 1996. View at Google Scholar · View at Scopus
  44. T. Miura, K. Suzuki, N. Kohata, and H. Takeuchi, “Metal binding modes of Alzheimer's amyloid β-peptide in insoluble aggregates and soluble complexes,” Biochemistry, vol. 39, no. 23, pp. 7024–7031, 2000. View at Publisher · View at Google Scholar · View at Scopus
  45. S. S. Vembar and J. L. Brodsky, “One step at a time: endoplasmic reticulum-associated degradation,” Nature Reviews Molecular Cell Biology, vol. 9, no. 12, pp. 944–957, 2008. View at Publisher · View at Google Scholar · View at Scopus
  46. J. M. Berg and Y. Shi, “The galvanization of biology: a growing appreciation for the roles of zinc,” Science, vol. 271, no. 5252, pp. 1081–1085, 1996. View at Google Scholar · View at Scopus
  47. C. G. Neumann and G. G. Harrison, “Onset and evolution of stunting in infants and children. Examples from the Human Nutrition Collaborative Research Support Program. Kenya and Egypt studies,” European Journal of Clinical Nutrition, vol. 48, supplement 1, pp. S90–S102, 1994. View at Google Scholar · View at Scopus
  48. N. E. Krebs, C. Reidinger, J. Westcott, L. V. Miller, P. V. Fennessey, and K. M. Hambidge, “Whole body zinc metabolism in full-term breastfed and formula fed infants,” Advances in Experimental Medicine and Biology, vol. 352, pp. 223–226, 1994. View at Google Scholar · View at Scopus
  49. N. F. Krebs, C. J. Reidinger, A. D. Robertson, and K. M. Hambidge, “Growth and intakes of energy and zinc in infants fed human milk,” Journal of Pediatrics, vol. 124, no. 1, pp. 32–39, 1994. View at Google Scholar · View at Scopus