Mice models of VLCAD develop oxidative stress in the liver upon fasting, suggesting reactive oxygen species are important culprits in the hepatopathy of affected patients (Tucci et al, 2010, FEBS J 277:4699-708). Increased oxidative stress was also seen when over-expressing a mutant SCAD in cultured cells (Schmidt et al, 2010, Mol Genet Metab 100:155-62), while others noticed increased autophagy (Shirao et al, 2010, Hum Genet 127:619-28); the second possibly being a consequence of the first.

Posted by Philippe Campeau, MD