The mTOR pathway (named for the mammalian target of rapamycin), keys on a protein kinase that is involved in a number of essential cellular functions, from growth and proliferating to protein synthesis and transcription.  Researchers at the University of Pennsylvania and the Clinic for Special Children (Strasburg, PA) have identified mTOR in a rare genetic disease among Amish children that the Plain People call “pretzel syndrome” because one of its symptoms is foldable loose joints.  The disorder also presents an abnormally large brain, learning disability, and resistance to epilepsy drugs.  These symptoms also suggested that the mTOR pathway is implicated in less rare neurological disorders such as epilepsy and autism among others.  Animal studies supported that observation.  Ksenia Orlova and Kevin Strauss co-authored the paper about this in the May issue of the Journal of Clinical Investigation. MORE