| First Author | Weinhofer I | Year | 2005 |
| Journal | FEBS Lett | Volume | 579 |
| Issue | 25 | Pages | 5512-6 |
| PubMed ID | 16213491 | Mgi Jnum | J:102393 |
| Mgi Id | MGI:3607443 | Doi | 10.1016/j.febslet.2005.09.014 |
| Citation | Weinhofer I, et al. (2005) X-linked adrenoleukodystrophy mice demonstrate abnormalities in cholesterol metabolism. FEBS Lett 579(25):5512-6 |
| abstractText | The neurodegenerative disorder X-linked adrenoleukodystrophy (X-ALD) is caused by ABCD1 mutations and characterized by very long-chain fatty acid (VLCFA) accumulation. Cholesterol-lowering normalized VLCFA in fibroblasts and plasma of X-ALD patients. We show that in cultured cells, cholesterol-loading induces ABCD1. In X-ALD mice, plasma cholesterol is elevated and not further increasable by cholesterol-feeding, whereas hepatic HMG-CoA reductase and Abcd2 are downregulated. Upon cholesterol modulation, brain VLCFA increased in X-ALD mice, but decreased in controls. In murine X-ALD fibroblasts, cholesterol-lowering did not normalize VLCFA. Thus, ALDP-deficiency and VLCFA are linked to cholesterol but species differences complicate evaluating cholesterol-lowering drugs in X-ALD mice. |
