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13-1300D Targeting Cellular Stress As A Novel Therapeutic Approach For CG

Bijina Balakrishnan

Classic galactosemia in patients occurs when an enzyme, ‘galactose 1-phosphate uridylyltransferase’ (GALT), is either missing or not working properly. Consequently, patients have an impaired ability to metabolize galactose, which could be derived from dietary or endogenous sources. Although the newborn screening programs and a galactose-restricted diet can satisfactorily treat the neonatal toxicity associated with the disease, these treatments/measures fail to prevent the long-term complications like developmental delay, speech difficulties, intellectual disability and primary ovarian insufficiency in females. Our recent studies on GALT-deficient mice demonstrated higher level of cellular stress due to the accumulation of toxic metabolites, which leads to downregulated growth signaling pathway in organs like brain and ovary. We recently showed cellular stress reducers can effectively reverse the reduced signaling pathways as well as maintains the ovarian reserve in GALT-deficient mice. These results open the door for a new therapeutic approach for the patients with Classic Galactosemia.