Identification of therapies targeting lipid metabolism and myelination for Charcot-Marie-Tooth disease type 1A using patient-derived Schwann cells KU Leuven
In the inherited demyelinating peripheral neuropathy Charcot-Marie-Tooth disease type 1-A (CMT1A), peripheral myelin protein 22 (PMP22) is duplicated in Schwann cells leading to abnormal differentiation and progressive demyelination. Cholesterol is essential for myelination and PMP22 regulates its trafficking: CMT1A rodent models overexpressing PMP22 show downregulated cholesterol and lipid metabolism with reduced transcription of genes ...