Friday, February 16, 2018

Review discusses re-think of pathogenesis underlying Ehlers-Danlos syndrome based on results of fly study

Xiao G, Zhou B. ZIP13: A Study of Drosophila Offers an Alternative Explanation for the Corresponding Human Disease. Front Genet. 2018 Jan 31;8:234. PMID: 29445391; PubMed Central PMCID: PMC5797780.

The abstract: "The fruit fly Drosophila melanogaster has become an important model organism to investigate metal homeostasis and human diseases. Previously we identified dZIP13 (CG7816), a member of the ZIP transporter family (SLC39A) and presumably a zinc importer, is in fact physiologically primarily responsible to move iron from the cytosol into the secretory compartments in the fly. This review will discuss the implication of this finding for the etiology of Spondylocheirodysplasia-Ehlers-Danlos Syndrome (SCD-EDS), a human disease defective in ZIP13. We propose an entirely different model in that lack of iron in the secretory compartment may underlie SCD-EDS. Altogether three different working models are discussed, supported by relevant findings made in different studies, with uncertainties, and questions remained to be solved. We speculate that the distinct ZIP13 sequence features, different from those of all other ZIP family members, may confer it special transport properties."

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