Lpin2-flox Mouse

LPIN2, located on the short arm of chromosome 18, is involved in multiple biological processes. In Dictyostelium, it serves as the phosphatase dominating the penultimate step of neutral lipid biosynthesis [2]. In rodents, it is associated with axon regeneration as the RNA m6A demethylase ALKBH5 increases the stability of Lpin2 mRNA, influencing regenerative growth associated lipid metabolism in dorsal root ganglion neurons [6].

LPIN2 is highly relevant in human diseases. Biallelic variants in LPIN2 cause Majeed syndrome, a rare non-inflammasome autoinflammatory disease. Clinical manifestations often include chronic recurrent osteomyelitis, chronic anaemia, and sometimes neutrophilic dermatosis [1,3,5]. Functional studies on a patient with Majeed syndrome revealed that LPIN2 deficiency drives the differentiation of pro-inflammatory M2-like macrophages and enhances intrinsic osteoclastogenesis, differentiating Majeed syndrome from other IL-1-mediated autoinflammatory diseases [3]. Also, the rs3745012 SNP of LPIN2 gene is associated with type 2 diabetes and fat distribution [4]. In chickens, variants in LPIN2 are associated with various performance traits such as growth, carcass, meat quality traits, and serum biochemistry parameters [7].

In conclusion, LPIN2 is crucial for lipid metabolism, axon regeneration, and has significant implications in multiple disease conditions, especially Majeed syndrome, type 2 diabetes, and certain performance-related traits in chickens. Understanding LPIN2 through functional studies provides insights into the underlying biological mechanisms and potential therapeutic targets for related diseases.