Bar, S., Prasad, M. and Datta, R. Dis. Model Mech. 11, dmm036954 (2018)
Sly syndrome is a recessive lysosomal storage disorder that leads to premature death in humans. It has a mouse model and, as of November 2017, an FDA-approved enzyme therapy. But there’s still much to learn about the mechanisms behind this form of mucopolysaccharidosis and others like it. As an alternative to the mouse, researchers in India recently developed a fly model of Sly syndrome.
The deficient enzyme responsible for the syndrome in humans, β-glucuronidase, has an orthologue in Drosophila melanogaster, CG2135. When that gene is knocked out, the fly experiences similar cardiac problems, motor impairments and neuropathologies, and shortened lifespans. The authors relate those phenotypes to apoptosis in dopaminergic neurons and muscle cells and show that treatment with resveratrol can help attenuate abnormalities in CG2135−/− flies.