Abstract
Pseudoxanthoma elasticum (PXE), a heritable multi-system disorder, is caused by mutations in the ABCC6 gene primarily expressed in the liver. Recent analysis of cultured fibroblasts from patients with PXE has suggested compensatory alterations in the expression of the ABCA-subfamily of genes. We have now determined by quantitative RT-PCR the level of expression of Abca-family of genes in a mouse model of PXE developed by targeted ablation of Abcc6. The results indicated variable levels of mRNA for different Abca genes in the liver; however, only one of them, Abca4, was significantly, ∼6.5-fold, upregulated in the Abcc6(-/-) mice in comparison with wild-type mice. In the same mice, Abca4 was not upregulated in the eyes or the kidney, suggesting that the upregulation of Abca4 in the liver is a tissue-specific compensatory consequence of the 'knock-out' of Abcc6.