Deakin University
Browse
n20021024.pdf (364.51 kB)

Correction of the copper transport defect of Menkes patient fibroblasts by expression of two forms of the sheep Wilson ATPase

Download (364.51 kB)
journal contribution
posted on 2002-11-20, 00:00 authored by P Lockhart, Sharon La FontaineSharon La Fontaine, Stephen Firth, M Greenough, J Camakaris, Julian MercerJulian Mercer
The Wilson disease (WD) protein (ATP7B) is a copper-transporting P-type ATPase that is responsible for the efflux of hepatic copper into the bile, a process that is essential for copper homeostasis in mammals. Compared with other mammals, sheep have a variant copper phenotype and do not efficiently excrete copper via the bile, often resulting in excessive copper accumulation in the liver. To investigate the function of sheep ATP7B and its potential role in the copper-accumulation phenotype, cDNAs encoding the two forms of ovine ATP7B were transfected into immortalised fibroblast cell lines derived from a Menkes disease patient and a normal control. Both forms of ATP7B were able to correct the copper-retention phenotype of the Menkes cell line, demonstrating each to be functional copper-transporting molecules and suggesting that the accumulation of copper in the sheep liver is not due to a defect in the copper transport function of either form of sATP7B.

History

Journal

Biochimica et biophysica acta (BBA) - molecular basis of disease

Volume

1588

Issue

2

Pagination

189 - 194

Publisher

Elsevier Science BV

Location

Netherlands

ISSN

0925-4439

Language

eng

Publication classification

C1 Refereed article in a scholarly journal

Copyright notice

2002 Elsevier Science B.V.