It is also known as hereditary motor and sensory neuropathy (HMSN), which comprises a group of disorders specifically affecting peripheral nerves. Charcot–Marie–Tooth (CMT) disease is one of the most common inherited peripheral neuropathies. This is particularly true for neuronal diseases, identifying the nervous system as the most sensitive tissue to alterations of membrane traffic. Intriguingly, mutations in ubiquitously expressed membrane traffic genes often lead to cell type- or organ-specific disorders. Mutations of genes whose primary function is the regulation of membrane traffic are increasingly being identified as the underlying causes of various important human disorders. Abbreviations: CMT, Charcot-Marie-Tooth DENN, differentially expressed in neoplastic versus normal cells DNM2, dynamin 2 FYVE, Fab1p–YOTB–Vac1p–EEA1 GDAP1, ganglioside induced differentiation associated protein-1 GEF, guanine nucleotide exchange factor HMSN, hereditary motor and sensory neuropathy HSPs, heat shock proteins KIF1b, kinesin family member 1β LITAF, lipopolysaccharide-induced TNF factor LRSAM1, leucine repeat and sterile alpha motif containing 1 MFN2, mitofusin 2 MTMRs, myotubularin-related proteins MVBs, multivesicular bodies NDRG1, N-myc downstream regulated gene 1 Nedd4, neuronal precursor cell expressed developmentally downregulated 4 NEFL, neurofilament light polypetide OPA, optic atrophy proteins PH, pleckstrin homology PMP22, peripheral myelin protein 22 PtdIns, phosphatidylinositol PIs, phosphoinositides SH3TC2, SH3 domain and tetratricopeptide repeats-containing protein 2 SIMPLE, small integral membrane protein of lysosome/late endosome SNAREs, soluble N-ethylmaleimide-sensitive factor attachment protein receptor Tsg101, tumor susceptibility gene 101
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