Galactokinase 1 mRNA (GALK1 mRNA) (GALK1 mRNA)

Galactokinase 1 (GALK1) mRNA is the transcript that encodes the galactokinase 1 enzyme, a key component of the Leloir pathway responsible for the first step of galactose metabolism [1]. This enzyme facilitates the conversion of dietary galactose into galactose-1-phosphate (Gal-1-P). In individuals with Classic Galactosemia, a deficiency in the downstream enzyme GALT leads to the pathological accumulation of Gal-1-P, which is toxic to the liver, brain, and ovaries [2, 4]. Targeting GALK1 mRNA via RNA interference (RNAi) serves as a substrate reduction therapy (SRT) designed to block the production of Gal-1-P at its source [2, 3]. By reducing the levels of GALK1 mRNA, the overall enzymatic activity is lowered, thereby mitigating the toxic buildup associated with GALT deficiency [3]. This therapeutic approach is currently being explored to address the unmet medical needs of patients who suffer from long-term complications of galactosemia despite dietary restrictions [3, 4]. While dietary management reduces exogenous galactose, endogenous production remains a challenge that mRNA-targeted therapies aim to solve [2]. Clinical candidates like DCR-GALK have demonstrated the ability to significantly lower Gal-1-P levels in early-stage trials [3].

Other names

GALK1 transcriptGalactokinase 1 messenger RNAGK1 mRNA

RNA interference (RNAi) mediated degradation of the GALK1 mRNA transcript to reduce the expression of the galactokinase 1 enzyme, thereby decreasing the production of toxic galactose-1-phosphate in patients with Classic Galactosemia.