Heather L. Gray-Edwards1, Nouha Salibi2, Diane Wilson1, Ashley Randle1, Ronald J. Beyers3, Thomas Stewart Denney3, Ravi T. Seethamraju2, Shumin Wang3, Xiaotong Sun3, Allison M. Bradbury4, Victoria J. McCurdy4, Aime K. Johnson5, Nancy Cox1, Douglas R. Martin4
1Scott-Ritchey Research Center, Auburn University, Auburn, Al, United States; 2MR R&D, Siemens Healthcare, Malvern, PA, United States; 3Department of Electrical and Computer Engineering, Auburn Univeristy, Auburn, AL, United States; 4Anatomy, Physiology and Pharmacology, Auburn University, Auburn, Al, United States; 5Clinical Sciences, Auburn University, Auburn, Al, United States
GM1 gangliosidosis is a neurodegenerative lysosomal storage disease caused by an enzyme deficiency in beta-galactosidase that results in buildup of GM1 ganglioside throughout the nervous system, and is fatal often by age five. The feline GM1 gangliosidosis model is a replica of the juvenile form of human GM1 gangliosidosis. AAV2/rh8 vector expressing subunits were injected bilaterally into the thalamus and deep cerebellar nuclei of GM1 cats. MR images and Magnetic Resonance Spectroscopy (MRS) data were acquired on a 3 Tesla MAGNETOM Verio scanner. Untreated GM1 cat shows gray:white matter inversion and elevations of brain metabolites. Gene replacement in the feline GM1 model results in restoration of both brain architecture and metabolites.