Fig. 4

Lyso-PS and ox-PS may play key roles in the pathophysiology of PHARC syndrome in ABHD12^−/− mice. Silencing of ABHD12 results in the accumulation of lyso-PS and ox-PS, which results in a proinflammatory response and cellular signaling by lyso-PS through its receptors and a proapoptotic signal by ox-PS. These cellular changes result in neuroinflammation, mast cell degranulation, lymphocyte proliferation and cell death, which are likely to be the underlying mechanisms of the pathophysiology of PHARC syndrome. TLR2 = toll-like receptor 2; GPCR = G-protein-coupled receptor; FFA = free fatty acid; GPS = glycerophosphoserine