In May, Xuntian Jiang, PhD and colleagues had their research titled “CRISPR-Cas9 Knock-In of T513M and G41S Mutations in the Murine β–Galactosyl-Ceramidase Gene Re-capitulates Early-Onset and Adult-Onset Forms of Krabbe Disease,” published in “Frontiers in Molecular Neuroscience.”
Krabbe Disease is a genetic deficiency disorder of the lysosomal enzyme β-galactosyl-ceramidase (GALC). The correlation between reduced activity of GALC enzymes and progressive accumulation of sphingolipid metabolite psychosine causes “disruption in lipid raft architecture, diffuse demyelination, astrogliosis, and globoid cell formation.”
In the study, two transgenic mouse models were generated containing point mutations that are often found in both infantile and adult forms of Krabbe Disease. Their research offers the “possibility to study the mechanisms by which two distinct GALC mutations affect the trafficking of mutated GALC and modify phenotypic manifestations in early- vs adult-onset KD.