MVK

MVK most commonly refers to the MVK gene in humans, which encodes the enzyme mevalonate kinase, a key component of the mevalonate pathway. Mevalonate kinase catalyzes the ATP-dependent phosphorylation of mevalonate to mevalonate-5-phosphate, a step required for the biosynthesis of isoprenoids, including cholesterol precursors and other lipid intermediates. The enzyme is a cytosolic protein and contributes to the production of downstream compounds such as farnesyl pyrophosphate and geranylgeranyl pyrophosphate, which are essential for protein prenylation and various cellular processes.

Mutations in MVK cause mevalonate kinase deficiency (MKD), a spectrum of autoinflammatory disorders that includes hyper-IgD syndrome (HIDS) and the more severe mevalonic aciduria. Patients may present with recurrent fever episodes, abdominal pain, rash, lymphadenopathy, and elevated inflammatory markers; in mevalonic aciduria, there can be developmental delay and organ involvement. Biochemical testing often shows elevated urinary mevalonic acid and reduced MVK enzyme activity in cells.

Genetically, MKD is typically inherited in an autosomal recessive pattern, with a variety of missense, nonsense, and splice-site mutations described in the MVK gene. The condition highlights a link between metabolism and innate immune activation, as impaired isoprenoid synthesis is thought to contribute to inflammatory pathway activation.

Beyond disease associations, MVK is studied in basic biology as a contributor to the mevalonate pathway, and researchers investigate therapeutic approaches including cytokine inhibitors to manage flares in MKD. The term MVK may also be used in non-biological contexts to refer to other entities, but in scientific literature it most often denotes this gene.