Lafora disease, a progressive myoclonus epilepsy, is caused by mutations in Laforin. Now, laforin has been shown to regulate autophagy through the mTOR pathway (Aguado et al., 2010, Am J Hum Genet 19:2867-76). In Lafora disease, it is thought that inhibition of mTOR is decreased and results in impaired autophagy.

Posted by Philippe Campeau MD