A mutation in Ampd2 is associated with nephrotic syndrome and hypercholesterolemia in mice.

ABSTRACT:

Background

Previously, we identified three loci affecting HDL-cholesterol levels in a screen for ENU-induced mutations in mice and discovered two mutated genes. We sought to identify the third mutated gene and further characterize the mouse phenotype.

Methods

We engaged, DNA sequencing, gene expression profiling, western blotting, lipoprotein characterization, metabolomics assessment, histology and electron microscopy in mouse tissues.

Results

We identify the third gene as Ampd2, a liver isoform of AMP Deaminase (Ampd), a central component of energy and purine metabolism pathways. The causative mutation was a guanine-to-thymine transversion resulting in an A341S conversion in Ampd2. Ampd2 homozygous mutant mice exhibit a labile hypercholesterolemia phenotype, peaking

SUBMITTER: Helmering J 

PROVIDER: S-EPMC4232700 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature