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Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome


Jeong, Jeeyon; Walker, Joel M; Wang, Fudi; Park, J Genevieve; Palmer, Amy E; Giunta, Cecilia; Rohrbach, Marianne; Steinmann, Beat; Eide, David J (2012). Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome. Proceedings of the National Academy of Sciences of the United States of America, 109(51):E3530-E3538.

Abstract

Significance Intracellular zinc is tightly controlled because zinc is essential but potentially toxic. Many organisms regulate zinc using storage vesicles/organelles, but whether mammals do so is unknown. Here, we show that human ZIP13 releases zinc from vesicular stores. Previous studies found that mutations in the ZIP13 gene, SLC39A13, cause the spondylocheiro dysplastic form of Ehlers-Danlos syndrome (SCD-EDS) and speculated that ZIP13 exports zinc from the early secretory pathway and that zinc overload in the endoplasmic reticulum causes SCD-EDS. In contrast, our study suggests that SCD-EDS results from zinc deficiency in the endoplasmic reticulum resulting from zinc trapping in vesicular stores.

Abstract

Significance Intracellular zinc is tightly controlled because zinc is essential but potentially toxic. Many organisms regulate zinc using storage vesicles/organelles, but whether mammals do so is unknown. Here, we show that human ZIP13 releases zinc from vesicular stores. Previous studies found that mutations in the ZIP13 gene, SLC39A13, cause the spondylocheiro dysplastic form of Ehlers-Danlos syndrome (SCD-EDS) and speculated that ZIP13 exports zinc from the early secretory pathway and that zinc overload in the endoplasmic reticulum causes SCD-EDS. In contrast, our study suggests that SCD-EDS results from zinc deficiency in the endoplasmic reticulum resulting from zinc trapping in vesicular stores.

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39 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2012
Deposited On:20 Feb 2013 14:02
Last Modified:05 Apr 2016 16:31
Publisher:National Academy of Sciences
ISSN:0027-8424
Publisher DOI:https://doi.org/10.1073/pnas.1211775110
PubMed ID:23213233

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