In February, Xuntian Jiang, PhD and collaborators had their research titled “GLB1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients,” published in the journal of “Molecular Genetics and Metabolism.”
“GM1 gangliosidosis is a rare lysosomal storage disorder affecting multiple organ systems, primarily the central nervous system, and is caused by functional deficiency of β-galactosidase (GLB1).”
By using CRISPR/Cas9 genome editing, Jiang’s collaborators at NIH generated a mouse model for GM1 gangliosidosis research. The mouse model mirrors multiple disease characteristics that are shown in patients with the disorder. Both patients and the mouse model share the same pentasacharide biomarkers identified by Jiang, which allow for assessing treatment efficacy, facilitating the translation of the therapy developed in the model to patients.
Throughout their research, they utilize the mouse model to identify multiple similarities in how the disorder functions and affects its host. Stating that their “GLB1−/− mouse most closely models the less severe type II disease and will guide the development of new therapies for patients with the disorder.”
Elena-Raluca Nicoli, Mylene Huebecker, Sangwoo T. Han, Karolyn Garcia, Jeeva Munasinghe, Martin Lizak, Yvonne Latour, Robin Yoon, Brianna Glase, Michal Tyrlik, Morteza Peiravi, Danielle Springer, Eva H. Baker, David Priestman, Rohini Sidhu, Pamela Kell, Xuntian Jiang, Josephine Kolstad, Anna Luisa Kuhn, Mohammed Salman Shazeeb, Maria T. Acosta, Richard L. Proia, Frances M. Platt, Cynthia J. Tifft. Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients. Molecular Genetics and Metabolism. Volume 138, Issue 2. 2023, 107508, ISSN 1096-7192. doi:10.1016/j.ymgme.2023.107508