1. GM3 synthase deficiency increases brain glucose metabolism in mice
- Author
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Sivakama S. Bharathi, Bob B. Zhang, Eli Paul, Yuxun Zhang, Alexandra V. Schmidt, Benjamin Fowler, Yijen Wu, Michael Tiemeyer, Kei-ichiro Inamori, Jin-ichi Inokuchi, and Eric S. Goetzman
- Subjects
Mice, Knockout ,Mice ,Endocrinology ,Glucose ,Seizures ,Endocrinology, Diabetes and Metabolism ,Pyruvic Acid ,Genetics ,Animals ,G(M3) Ganglioside ,Brain ,Molecular Biology ,Biochemistry - Abstract
GM3 synthase (GM3S) deficiency is a rare neurodevelopmental disorder caused by an inability to synthesize gangliosides, for which there is currently no treatment. Gangliosides are brain-enriched, plasma membrane glycosphingolipids with poorly understood biological functions related to cell adhesion, growth, and receptor-mediated signal transduction. Here, we investigated the effects of GM3S deficiency on metabolism and mitochondrial function in a mouse model. By indirect calorimetry, GM3S knockout mice exhibited increased whole-body respiration and an increased reliance upon carbohydrate as an energy source.
- Published
- 2022