Zinc deficiency and its inherited disorders - A review

Ackland, Leigh and Michalczyk, Agnes 2006, Zinc deficiency and its inherited disorders - A review, Genes & nutrition, vol. 1, no. 1, pp. 41-50, doi: 10.1007/BF02829935.

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Title Zinc deficiency and its inherited disorders - A review
Author(s) Ackland, LeighORCID iD for Ackland, Leigh orcid.org/0000-0002-7474-6556
Michalczyk, AgnesORCID iD for Michalczyk, Agnes orcid.org/0000-0001-5716-0783
Journal name Genes & nutrition
Volume number 1
Issue number 1
Start page 41
End page 50
Publisher New Century Health Publishers, LLC
Place of publication New Orleans, LA
Publication date 2006-03
ISSN 1865-3499
Keyword(s) acrodermatitis
zinc and immune response
zinc secretion
zinc transporters
Zinc and wound healing
Summary Zinc is an essential trace element required by all living organisms because of its critical roles both as a structural component of proteins and as a cofactor in enzyme catalysis. The importance of zinc in human metabolism is illustrated by the effects of zinc deficiency, which include a diminished immune response, reduced healing and neurological disorders. Furthermore, nutritional zinc deficiency can be fatal in newborn or growing animals. While zinc deficiency is commonly caused by dietary factors, several inherited defects of zinc deficiency have been identified. Acrodermatitis enteropathica is the most commonly described inherited condition found in humans. In several of the few cases that have been reported, this disorder is associated with mutations in the hZIP4 gene, a member of the SLC39 family, whose members encode membranebound putative zinc transporters. Mutations in other members of this family or in different genes may account for other cases of acrodermatitis in which defects in hZIP4 have not been detected. Another inherited form of zinc deficiency occurs in the lethal milk mouse, where a mutation in ZnT4 gene, a member of the SLC30 family of transmembrane proteins results in impaired secretion of zinc into milk from the mammary gland. A similar disorder to the lethal milk mouse occurs in humans. In the few cases studied, no changes in ZnT4 orthologue, hZnT4, were detected. This, and the presence of several minor phenotypic differences between the zinc deficiency in humans and mice, suggests that the human condition is caused by defects in genes that are yet to be identified. Taking into account the fact that there are no definitive tests for zinc deficiency and that this disorder can go undiagnosed, plus the recent identification of multiple members of the SCL30 and SLC39, it is likely that mutations in other genes may underlie additional inherited disorders of zinc deficiency.
Language eng
DOI 10.1007/BF02829935
Field of Research 060405 Gene Expression (incl Microarray and other genome-wide approaches)
Socio Economic Objective 970106 Expanding Knowledge in the Biological Sciences
HERDC Research category C1 Refereed article in a scholarly journal
Copyright notice ©2006, New Century Health Publishers
Persistent URL http://hdl.handle.net/10536/DRO/DU:30003777

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