Expression data from human kidney tubule epithelial cells

Methylmalonic acidemia (MMA) is one of the most common inherited metabolic disorders, due to deficiency of the mitochondrial methylmalonyl ̶ coenzyme A mutase (MUT). How MUT deficiency triggers mitochondrial alterations and cell damage remains unknown, preventing the development of disease-modifying therapies. To assess the effect of MUT deficiency on gene expression we investigated the transcriptome of in kidney cells derived from healthy controls or patients with MMA who harbor inactivating mutations in MUT. Microarray data indicate that MUT deficiency induces a profound and global change in gene expression that may be in part responsible of cellular alterations observed in patient cells. Kidney cells were isolated from urine of either healthy controls or patients with MMA who harbor inactivating mutations in MUT. Confluent cells were sub–cultivated until 3rd passage and, subsequently, immortalized using pRSVneo vector containing SV40 DNA (pRNS1). Afterwards, immortalized kidney tubule epithelial cells were characterized for protein expression and enzyme activity. Total RNA was extracted from control and MMA cells to assess changes in gene expression with microarrays.