Gys1-flox Mouse

Gys1, glycogen synthase 1, is a central enzyme for glycogen synthesis [4]. It is involved in processes like gluconeogenesis and glycogenesis, and plays a crucial role in maintaining glycogen metabolism, which is essential for energy storage and various biological functions [5]. In muscle, it works with glycogenin-1 (GYG1) to initiate and extend glycogen chains [6].

In mouse models, downregulating Gys1 has shown therapeutic potential in several diseases. In Lafora disease mouse models, Gys1-ASO treatment decreased Gys1 protein levels, glycogen aggregation, and epileptiform discharges, halting disease progression [1]. Similarly, in adult polyglucosan body disease mouse models, knocking out Gys1 improved lifespan, morphology, and neuromuscular function, reducing polyglucosan body accumulation and gliosis [2]. In clear cell renal carcinoma (ccRCC), silencing Gys1 suppressed tumor growth by activating the NF-κB pathway [3]. In zebrafish, gys1 knockout led to reduced glycogen reserve in ovaries and embryos, indicating its role in maternal glycogen reserve for embryonic development [4].

In conclusion, Gys1 is essential for glycogen metabolism. Studies using gene knockout or knockdown in mouse models and zebrafish have revealed its significance in diseases such as Lafora disease, adult polyglucosan body disease, and ccRCC, as well as in embryonic development. These findings provide potential therapeutic targets for related diseases and a better understanding of biological processes related to glycogen metabolism.