| Description |
PIGA deficiency is a rare X-linked recessive disorder that lacks effective treatment options. A protein encoded by the PIGA gene catalyzed the first step in biosynthesis of Glycosylphatidylinositol (GPI) anchors. Partial loss of function mutations in PIGA can prevent a cell from being able to synthesize GPI anchors resulting in a congenital disorder of glycosylation (CDG). PIGA deficiency is characterized by early on-set seizures, developmental delays, Growth abnormalities, vision impairments, deafness, decreased life expectancy, liver problems, and hypotonia. A previous gene expression analysis in PIGA neuron-specific knockdowns identified numerous genes that were differentially expressed. In this study a Drosophila model was generated to test the modifier effect of eleven of those identified genes. Six of these genes were found to demonstrate modifier effects on both male and female flies and three were found to modify disease phenotype only in males. These could be promising targets for future research on PIGA deficiency and therapy development. |
