The diagnosis of inherited metabolic diseases by microarray gene expression profiling.

ABSTRACT:

Background

Inherited metabolic diseases (IMDs) comprise a diverse group of generally progressive genetic metabolic disorders of variable clinical presentations and severity. We have undertaken a study using microarray gene expression profiling of cultured fibroblasts to investigate 68 patients with a broad range of suspected metabolic disorders, including defects of lysosomal, mitochondrial, peroxisomal, fatty acid, carbohydrate, amino acid, molybdenum cofactor, and purine and pyrimidine metabolism. We aimed to define gene expression signatures characteristic of defective metabolic pathways.

Methods

Total mRNA extracted from cultured fibroblast cell lines was hybridized to Affymetrix U133 Plus 2.0 arrays. Expression data was analyzed for the presence of a gene expression sig

SUBMITTER: Hernandez MA 

PROVIDER: S-EPMC3009951 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature