title: [Molecular pathogenesis of hereditary motor and sensory neuropathy].
abstract: Charcot-Marie-Tooth disease 2 is an inherited axonal motor and sensory neuropathy. It is very heterogenous, both clinically and genetically. Till present, 15 types of CMT2, 14 loci and 13 genes are known to be causative of CMT2. Studying mechanisms of molecular pathogenesis is very important for finding a therapy for patients but the diversity of proteins involved in pathogenesis makes this very difficult. Proteins involved in molecular pathogenesis are e.g. proteins of the mitochondrial outer membrane with opposite functions (mitofusin 2 and GDAP1) responsible for fusion and fission of the mitochondrial network. Mutations also occur in genes encoding tRNA-synthetases, neuronal cytoskeletal protein, cation channel protein and molecular chaperones. This review presents knowledge of CMT2 and possible pathogenetic mechanisms responsible for the disease.
authors.affiliation: Zespół chorób nerwowo-mieśniowych Instytutu Medycyny Doświadczalnej i Klinicznej im. M. Mossakowskiego Polskiej Akademii Nauk, Warszawa. k.kotruchow@gmail.com
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Kotruchow
authors.forename: Dagmara
authors.initials: D
authors.lastname: Kabzińska
authors.forename: Kamila
authors.initials: K
authors.lastname: Karpińska
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kochański
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000378:metabolism*; D018797:Cell Cycle Proteins / Q000378:metabolism*; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009687:Nuclear Proteins / Q000378:metabolism*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D018797:Cell Cycle Proteins; C470309:MAD2L1BP protein, human; D009687:Nuclear Proteins