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
Suboptimal dietary zinc (Zn2+) intake is increasingly appreciated as an important public health issue. Zn2+ is an essential mineral, and infants are particularly vulnerable to Zn2+ deficiency, as they require large amounts of Zn2+ for their normal growth and development. Although term infants are bo...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | International Journal of Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2013/259189 |
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| author | Maria Consolata Miletta Andreas Bieri Kristin Kernland Martin H. Schöni Vibor Petkovic Christa E. Flück Andrée Eblé Primus E. Mullis |
| author_facet | Maria Consolata Miletta Andreas Bieri Kristin Kernland Martin H. Schöni Vibor Petkovic Christa E. Flück Andrée Eblé Primus E. Mullis |
| author_sort | Maria Consolata Miletta |
| collection | DOAJ |
| description | Suboptimal dietary zinc (Zn2+) intake is increasingly appreciated as an important public health issue. Zn2+ is an essential mineral, and infants are particularly vulnerable to Zn2+ deficiency, as they require large amounts of Zn2+ for their normal growth and development. Although term infants are born with an important hepatic Zn2+ storage, adequate Zn2+ nutrition of infants mostly depends on breast milk or formula feeding, which contains an adequate amount of Zn2+ to meet the infants’ requirements. An exclusively breast-fed 6 months old infant suffering from Zn2+ deficiency caused by an autosomal dominant negative G87R mutation in the Slc30a2 gene (encoding for the zinc transporter 2 (ZnT-2)) in the mother is reported. More than 20 zinc transporters characterized up to date, classified into two families (Slc30a/ZnT and Slc39a/Zip), reflect the complexity and importance of maintaining cellular Zn2+ homeostasis and dynamics. The role of ZnTs is to reduce intracellular Zn2+ by transporting it from the cytoplasm into various intracellular organelles and by moving Zn2+ into extracellular space. Zips increase intracellular Zn2+ by transporting it in the opposite direction. Thus the coordinated action of both is essential for the maintenance of Zn2+ homeostasis in the cytoplasm, and accumulating evidence suggests that this is also true for the secretory pathway of growth hormone. |
| format | Article |
| id | doaj-art-46a6ec1e52124ace9cc934a9dd858979 |
| institution | Kabale University |
| issn | 1687-8337 1687-8345 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Endocrinology |
| spelling | doaj-art-46a6ec1e52124ace9cc934a9dd8589792025-02-03T01:10:32ZengWileyInternational Journal of Endocrinology1687-83371687-83452013-01-01201310.1155/2013/259189259189Transient 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 DevelopmentMaria Consolata Miletta0Andreas Bieri1Kristin Kernland2Martin H. Schöni3Vibor Petkovic4Christa E. Flück5Andrée Eblé6Primus E. Mullis7Division of Paediatric Endocrinology, Diabetology and Metabolism and Department of Clinical Research, University Children’s Hospital, Inselspital, 3010 Bern, SwitzerlandDivision of Paediatric Endocrinology, Diabetology and Metabolism and Department of Clinical Research, University Children’s Hospital, Inselspital, 3010 Bern, SwitzerlandDepartment of Dermatology, University of Bern, 3010 Bern, SwitzerlandDivision of Paediatric Endocrinology, Diabetology and Metabolism and Department of Clinical Research, University Children’s Hospital, Inselspital, 3010 Bern, SwitzerlandDivision of Paediatric Endocrinology, Diabetology and Metabolism and Department of Clinical Research, University Children’s Hospital, Inselspital, 3010 Bern, SwitzerlandDivision of Paediatric Endocrinology, Diabetology and Metabolism and Department of Clinical Research, University Children’s Hospital, Inselspital, 3010 Bern, SwitzerlandDivision of Paediatric Endocrinology, Diabetology and Metabolism and Department of Clinical Research, University Children’s Hospital, Inselspital, 3010 Bern, SwitzerlandDivision of Paediatric Endocrinology, Diabetology and Metabolism and Department of Clinical Research, University Children’s Hospital, Inselspital, 3010 Bern, SwitzerlandSuboptimal dietary zinc (Zn2+) intake is increasingly appreciated as an important public health issue. Zn2+ is an essential mineral, and infants are particularly vulnerable to Zn2+ deficiency, as they require large amounts of Zn2+ for their normal growth and development. Although term infants are born with an important hepatic Zn2+ storage, adequate Zn2+ nutrition of infants mostly depends on breast milk or formula feeding, which contains an adequate amount of Zn2+ to meet the infants’ requirements. An exclusively breast-fed 6 months old infant suffering from Zn2+ deficiency caused by an autosomal dominant negative G87R mutation in the Slc30a2 gene (encoding for the zinc transporter 2 (ZnT-2)) in the mother is reported. More than 20 zinc transporters characterized up to date, classified into two families (Slc30a/ZnT and Slc39a/Zip), reflect the complexity and importance of maintaining cellular Zn2+ homeostasis and dynamics. The role of ZnTs is to reduce intracellular Zn2+ by transporting it from the cytoplasm into various intracellular organelles and by moving Zn2+ into extracellular space. Zips increase intracellular Zn2+ by transporting it in the opposite direction. Thus the coordinated action of both is essential for the maintenance of Zn2+ homeostasis in the cytoplasm, and accumulating evidence suggests that this is also true for the secretory pathway of growth hormone.http://dx.doi.org/10.1155/2013/259189 |
| spellingShingle | Maria Consolata Miletta Andreas Bieri Kristin Kernland Martin H. Schöni Vibor Petkovic Christa E. Flück Andrée Eblé Primus E. Mullis 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 International Journal of Endocrinology |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| url | http://dx.doi.org/10.1155/2013/259189 |
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