Mvk-flox Mouse

Mvk, short for mevalonate kinase, is an enzyme involved in the mevalonate pathway, a key metabolic route for the synthesis of cholesterol and other isoprenoids [2,4]. This pathway is essential for multiple cellular functions, including cell growth, membrane synthesis, and protein prenylation.

Mutations in the MVK gene are associated with mevalonate kinase deficiency, an autosomal recessive auto-inflammatory disease [2,4]. The clinical spectrum ranges from the milder hyperimmunoglobulinemia D with periodic fever syndrome to the more severe mevalonate aciduria [4]. In addition, MVK mutations have been linked to skin disorders such as linear porokeratosis [1], porokeratosis of Mibelli [5], and disseminated superficial porokeratosis [6]. In lung adenocarcinoma, MVK, induced by Kras, represses cGAS-Sting signalling, modifying the immunological milieu [3].

In conclusion, Mvk is crucial for the mevalonate pathway and its associated functions. Research on MVK mutations in various disease models has revealed its significant role in auto-inflammatory diseases and skin disorders. Understanding Mvk's functions in these disease contexts may provide new therapeutic targets for treatment [1,2,3,4,5,6].