Deakin University
Browse

File(s) under permanent embargo

Analysis of zinc transporter, hZnT4(Slc30A4), gene expression in a mammary gland disorder leading to reduced zinc secretion into milk

journal contribution
posted on 2003-08-01, 00:00 authored by Agnes MichalczykAgnes Michalczyk, G Varigos, A Catto-Smith, R Blomeley, Leigh AcklandLeigh Ackland
Zinc deficiency, causing impaired growth and development, may have a nutritional or genetic basis. We investigated two cases of inherited zinc deficiency found in breast-fed neonates, caused by low levels of zinc in the maternal milk. This condition is different from acrodermatitis enteropathica but has similarities to the "lethal milk" mouse, where low levels of zinc in the milk of lactating dams leads to zinc deficiency in pups. The mouse disorder has been attributed to a defect in the ZnT4 gene. Little is known about the expression of the human orthologue, hZnT4 (Slc30A4). Sequence analysis of cDNA, real-time PCR and Western blot analysis of hZnT4, carried out on control cells and cells from unrelated mothers of two infants with zinc deficiency, showed no differences. The hZnT4 gene was highly expressed in mouthwash buccal cells compared with lymphoblasts and fibroblasts. The hZnT4 protein did not co-localise with intracellular free zinc pools, suggesting that hZnT4 is not involved in transport of zinc into vesicles destined for secretion into milk. This observation, combined with phenotypic differences between the "lethal milk" mouse and the human disorder, suggests that the "lethal milk" mouse is not the corresponding model for the human zinc deficiency condition.

History

Journal

Human genetics

Volume

113

Issue

3

Pagination

202 - 210

Publisher

Springer-Verlag

Location

Berlin, Germany

ISSN

0340-6717

eISSN

1432-1203

Language

eng

Publication classification

C1 Refereed article in a scholarly journal

Copyright notice

2003, Springer-Verlag