Login

Join for Free!
116818 members
table of contents table of contents

The goal of this study was to examine global alterations in gene …


Biology Articles » Biochemistry » Lipid Biochemistry » Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients

Abstract
- Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients

Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients

Conrad L Leung, Yinghua Pang, Chang Shu, Dmitry Goryunov and Ronald KH Liem

Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, 630 W.168th Street, New York, New York 10032, USA

 

Background

Giant axonal neuropathy (GAN) is a hereditary neurological disorder that affects both central and peripheral nerves. The main pathological hallmark of the disease is abnormal accumulations of intermediate filaments (IFs) in giant axons and other cell types. Mutations in the GAN gene, encoding gigaxonin, cause the disease. Gigaxonin is important in controlling protein degradation via the ubiquitin-proteasome system. The goal of this study was to examine global alterations in gene expression in fibroblasts derived from newly identified GAN families compared with normal cells.

Results

We report the characterization of fibroblast explants obtained from two unrelated GAN patients. We identify three novel putative mutant GAN alleles and show aggregation of vimentin IFs in these fibroblasts. By microarray analysis, we also demonstrate that the expression of lipid metabolism genes of the GAN fibroblasts is disrupted, which may account for the abnormal accumulations of lipid droplets in these cells.

Conclusion

Our findings suggest that aberrant lipid metabolism in GAN patients may contribute to the progression of the disease.

BMC Genetics 2007, 8:6. This is an Open Access article distributed under the terms of the Creative Commons Attribution License.


rating: 0.00 from 0 votes | updated on: 15 Nov 2007 | views: 7717 |

Rate article:







excellent!bad…