Doris Krauter, Daniela Stausberg, Timon J Hartmann, Stefan Volkmann, Theresa Kungl, David A Rasche, Gesine Saher, Robert Fledrich, Ruth M Stassart, Klaus-Armin Nave, Sandra Goebbels, David Ewers, Michael W Sereda
Haplo-insufficiency of the gene encoding the myelin protein PMP22 leads to focal myelin overgrowth in the peripheral nervous system and hereditary neuropathy with liability to pressure palsies (HNPP). Conversely, duplication of PMP22 causes Charcot-Marie-Tooth disease type 1A (CMT1A), characterized by hypomyelination of medium to large caliber axons. The molecular mechanisms of abnormal myelin growth regulation by PMP22 have remained obscure. Here, we show in rodent models of HNPP and CMT1A that the PI3K/Akt/mTOR-pathway inhibiting phosphatase PTEN is correlated in abundance with PMP22 in peripheral nerves, without evidence for direct protein interactions...
February 21, 2024: EMBO Molecular Medicine