Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies

Nivedita U. Jerath1, Michael E. Shy1
1University of Iowa, Carver College of Medicine, Department of Neurology, 200 Hawkins Drive, Iowa City, IA 52242, USA

Tài liệu tham khảo

Suter, 2003, Disease mechanisms in inherited neuropathies, Nat. Rev. Neurosci., 4, 714, 10.1038/nrn1196 Harel, 2014, Charcot Marie Tooth disease and pathways to molecular based therapies, Clin. Genet., 10.1111/cge.12393 Skre, 1974, Genetic and clinical aspects of Charcot–Marie–Tooth's disease, Clin. Genet., 6, 98, 10.1111/j.1399-0004.1974.tb00638.x Tanabe, 2009, Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot–Marie–Tooth mutant, J. Cell Biol., 185, 939, 10.1083/jcb.200803153 Murphy, 2012, Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing, J. Neurol. Neurosurg. Psychiatry, 83, 706, 10.1136/jnnp-2012-302451 Kennerson, 2013, A new locus for X-linked dominant Charcot–Marie–Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene, Hum. Mol. Genet., 22, 1404, 10.1093/hmg/dds557 Soong, 2013, Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot–Marie–Tooth disease, Am. J. Hum. Genet., 92, 422, 10.1016/j.ajhg.2013.01.014 Boyer, 2011, INF2 mutations in Charcot–Marie–Tooth disease with glomerulopathy, N. Engl. J. Med., 365, 2377, 10.1056/NEJMoa1109122 Auer-Grumbach, 2011, Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin, Brain, 134, 1839, 10.1093/brain/awr076 Safka Brozkova, 2013, Czech family confirms the link between FBLN5 and Charcot–Marie–Tooth type 1 neuropathy, Brain, 136, e232, 10.1093/brain/aws333 Klein, 2013, Inherited neuropathies: clinical overview and update, Muscle Nerve, 48, 604, 10.1002/mus.23775 Bird, 1993, Charcot–Marie–Tooth hereditary neuropathy overview Nakhro, 2013, SET binding factor 1 (SBF1) mutation causes Charcot–Marie–Tooth disease type 4B3, Neurology, 81, 165, 10.1212/WNL.0b013e31829a3421 Shy, 2006, Therapeutic strategies for the inherited neuropathies, Neruomol. Med., 8, 255, 10.1385/NMM:8:1-2:255 Blackstone, 2012, Cellular pathways of hereditary spastic paraplegia, Annu. Rev. Neurosci., 35, 25, 10.1146/annurev-neuro-062111-150400 Nave, 2007, Mechanisms of disease: inherited demyelinating neuropathies—from basic to clinical research, Nat. Clin. Pract. Neurol., 3, 453, 10.1038/ncpneuro0583 Pennuto, 2008, Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot–Marie–Tooth 1B mice, Neuron, 57, 393, 10.1016/j.neuron.2007.12.021 Colby, 2000, PMP22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells, Neurobiol. Dis., 7, 561, 10.1006/nbdi.2000.0323 Saporta, 2012, MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot–Marie–Tooth disease type 1B, Brain, 135, 2032, 10.1093/brain/aws140 Patzko, 2012, Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice, Brain, 135, 3551, 10.1093/brain/aws299 Snipes, 1992, Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13), J. Cell Biol., 117, 225, 10.1083/jcb.117.1.225 Adlkofer, 1997, Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy, J. Neurosci. Off. J. Soc. Neurosci., 17, 4662, 10.1523/JNEUROSCI.17-12-04662.1997 Fortun, 2007, The formation of peripheral myelin protein 22 aggregates is hindered by the enhancement of autophagy and expression of cytoplasmic chaperones, Neurobiol. Dis., 25, 252, 10.1016/j.nbd.2006.09.018 Tobler, 2002, Differential aggregation of the Trembler and Trembler J mutants of peripheral myelin protein 22, Proc. Natl. Acad. Sci. U. S. A., 99, 483, 10.1073/pnas.012593399 Patzig, 2011, Quantitative and integrative proteome analysis of peripheral nerve myelin identifies novel myelin proteins and candidate neuropathy loci, J. Neurosci. Off. J. Soc. Neurosci., 31, 16369, 10.1523/JNEUROSCI.4016-11.2011 Kirschner, 1996, Inherited demyelinating peripheral neuropathies: relating myelin packing abnormalities to P0 molecular defects, J. Neurosci. Res., 46, 502, 10.1002/(SICI)1097-4547(19961115)46:4<502::AID-JNR12>3.0.CO;2-# Shy, 2004, Phenotypic clustering in MPZ mutations, Brain, 127, 371, 10.1093/brain/awh048 Khajavi, 2005, Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants, Am. J. Hum. Genet., 77, 841, 10.1086/497541 Rangaraju, 2008, Pharmacological induction of the heat shock response improves myelination in a neuropathic model, Neurobiol. Dis., 32, 105, 10.1016/j.nbd.2008.06.015 Madorsky, 2009, Intermittent fasting alleviates the neuropathic phenotype in a mouse model of Charcot–Marie–Tooth disease, Neurobiol. Dis., 34, 146, 10.1016/j.nbd.2009.01.002 Gonzalez, 2013, Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2, J. Neurol. Neurosurg. Psychiatry, 84, 1247, 10.1136/jnnp-2013-305049 Desarnaud, 1998, Progesterone stimulates the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells, J. Neurochem., 71, 1765, 10.1046/j.1471-4159.1998.71041765.x Sereda, 2003, Therapeutic administration of progesterone antagonist in a model of Charcot–Marie–Tooth disease (CMT-1A), Nat. Med., 9, 1533, 10.1038/nm957 Passage, 2004, Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot–Marie–Tooth disease, Nat. Med., 10, 396, 10.1038/nm1023 Jang, 2012, Identification of drug modulators targeting gene–dosage disease CMT1A, ACS Chem. Biol., 7, 1205, 10.1021/cb300048d Pareyson, 2011, Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial, Lancet Neurol., 10, 320, 10.1016/S1474-4422(11)70025-4 Kirkpatrick, 1999, Molecular components of the neuronal cytoskeleton Brady, 1993, Axonal dynamics and regeneration, 7 Ohara, 1993, Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene, J. Cell Biol., 121, 387, 10.1083/jcb.121.2.387 Theriot, 1994, Regulation of the actin cytoskeleton in living cells, Semin. Cell Biol., 5, 193, 10.1006/scel.1994.1024 Chhabra, 2006, INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization, J. Biol. Chem., 281, 26754, 10.1074/jbc.M604666200 Bindschadler, 2004, Formin' new ideas about actin filament generation, Proc. Natl. Acad. Sci. U. S. A., 101, 14685, 10.1073/pnas.0406317101 Boerkoel, 2001, Periaxin mutations cause recessive Dejerine–Sottas neuropathy, Am. J. Hum. Genet., 68, 325, 10.1086/318208 Fledrich, 2012, Murine therapeutic models for Charcot–Marie–Tooth (CMT) disease, Br. Med. Bull., 102, 89, 10.1093/bmb/lds010 Marchesi, 2010, Four novel cases of periaxin-related neuropathy and review of the literature, Neurology, 75, 1830, 10.1212/WNL.0b013e3181fd6314 Gillespie, 2000, Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice, Neuron, 26, 523, 10.1016/S0896-6273(00)81184-8 Obaishi, 1998, Frabin, a novel FGD1-related actin filament-binding protein capable of changing cell shape and activating c-Jun N-terminal kinase, J. Biol. Chem., 273, 18697, 10.1074/jbc.273.30.18697 Ikeda, 2001, Identification of splicing variants of Frabin with partly different functions and tissue distribution, Biochem. Biophys. Res. Commun., 286, 1066, 10.1006/bbrc.2001.5481 d'Ydewalle, 2012, Charcot–Marie–Tooth disease: emerging mechanisms and therapies, Int. J. Biochem. Cell Biol., 44, 1299, 10.1016/j.biocel.2012.04.020 Zhai, 2007, Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot–Marie–Tooth disease-linked mutations in NFL and HSPB1, Hum. Mol. Genet., 16, 3103, 10.1093/hmg/ddm272 Brownlees, 2002, Charcot–Marie–Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport, Hum. Mol. Genet., 11, 2837, 10.1093/hmg/11.23.2837 Weedon, 2011, Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot–Marie–Tooth disease, Am. J. Hum. Genet., 89, 308, 10.1016/j.ajhg.2011.07.002 Oates, 2013, Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia, Am. J. Hum. Genet., 92, 965, 10.1016/j.ajhg.2013.04.018 Gentil, 2013, Heterogeneity in the properties of NEFL mutants causing Charcot–Marie–Tooth disease results in differential effects on neurofilament assembly and susceptibility to intervention by the chaperone-inducer, celastrol, Int. J. Biochem. Cell Biol., 45, 1499, 10.1016/j.biocel.2013.04.009 d'Ydewalle, 2011, HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot–Marie–Tooth disease, Nat. Med., 17, 968, 10.1038/nm.2396 Chen, 2010, HDAC6 regulates mitochondrial transport in hippocampal neurons, PLoS ONE, 5, e10848, 10.1371/journal.pone.0010848 Tai, 2008, Ubiquitin, the proteasome and protein degradation in neuronal function and dysfunction, Nat. Rev. Neurosci., 9, 826, 10.1038/nrn2499 Houlden, 2008, Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2, Neurology, 71, 1660, 10.1212/01.wnl.0000319696.14225.67 Borozdin, 2007, Multigene deletions on chromosome 20q13.13–q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay, Hum. Mutat., 28, 830, 10.1002/humu.9502 Kieran, 2004, Treatment with arimoclomol, a coinducer of heat shock proteins, delays disease progression in ALS mice, Nat. Med., 10, 402, 10.1038/nm1021 Irobi, 2004, Molecular genetics of distal hereditary motor neuropathies, Hum. Mol. Genet., 13, R195, 10.1093/hmg/ddh226 Wang, 2013, Membrane trafficking in neuronal maintenance and degeneration, Cell. Mol. Life Sci., 70, 2919, 10.1007/s00018-012-1201-4 Street, 2003, Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot–Marie–Tooth disease 1C, Neurology, 60, 22, 10.1212/WNL.60.1.22 Bennett, 2004, SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve, Ann. Neurol., 55, 713, 10.1002/ana.20094 Laporte, 2001, The myotubularin family: from genetic disease to phosphoinositide metabolism, Trends Genet., 17, 221, 10.1016/S0168-9525(01)02245-4 Bolis, 2009, Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination, J. Neurosci. Off. J. Soc. Neurosci., 29, 8858, 10.1523/JNEUROSCI.1423-09.2009 Goryunov, 2008, Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization, J. Neurochem., 104, 1536, 10.1111/j.1471-4159.2007.05103.x Tazir, 2013, Autosomal recessive Charcot–Marie–Tooth disease: from genes to phenotypes, J. Peripher. Nerv. Syst., 18, 113, 10.1111/jns5.12026 Lupo, 2009, Missense mutations in the SH3TC2 protein causing Charcot–Marie–Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway, Hum. Mol. Genet., 18, 4603, 10.1093/hmg/ddp427 Houlden, 2009, The phenotype of Charcot–Marie–Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy, Neuromuscul. Disord., 19, 264, 10.1016/j.nmd.2009.01.006 Kalaydjieva, 2000, N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom, Am. J. Hum. Genet., 67, 47, 10.1086/302978 Chow, 2007, Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J, Nature, 448, 68, 10.1038/nature05876 Katona, 2011, Distinct pathogenic processes between Fig4-deficient motor and sensory neurons, Eur. J. Neurosci., 33, 1401, 10.1111/j.1460-9568.2011.07651.x Beetz, 2013, Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure, Proc. Natl. Acad. Sci. U. S. A., 110, 5091, 10.1073/pnas.1217197110 Echard, 1998, Interaction of a Golgi-associated kinesin-like protein with Rab6, Science, 279, 580, 10.1126/science.279.5350.580 Jordens, 2001, The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein–dynactin motors, Curr. Biol., 11, 1680, 10.1016/S0960-9822(01)00531-0 Bhattacharya, 2005, Regulatory role of dynamin-2 in VEGFR-2/KDR-mediated endothelial signaling, FASEB J., 19, 1692, 10.1096/fj.05-3889fje Rosskopf, 2003, The human G protein beta4 subunit: gene structure, expression, Ggamma and effector interaction, FEBS Lett., 544, 27, 10.1016/S0014-5793(03)00441-1 Kann, 2007, Mitochondria and neuronal activity, Am. J. Physiol. Cell Physiol., 292, C641, 10.1152/ajpcell.00222.2006 Knott, 2008, Mitochondrial fragmentation in neurodegeneration, Nat. Rev. Neurosci., 9, 505, 10.1038/nrn2417 Zuchner, 2006, Molecular genetics of autosomal-dominant axonal Charcot–Marie–Tooth disease, Neruomol. Med., 8, 63, 10.1385/NMM:8:1-2:63 Koshiba, 2004, Structural basis of mitochondrial tethering by mitofusin complexes, Science, 305, 858, 10.1126/science.1099793 Baloh, 2007, Altered axonal mitochondrial transport in the pathogenesis of Charcot–Marie–Tooth disease from mitofusin 2 mutations, J. Neurosci. Off. J. Soc. Neurosci., 27, 422, 10.1523/JNEUROSCI.4798-06.2007 Chen, 2005, Disruption of fusion results in mitochondrial heterogeneity and dysfunction, J. Biol. Chem., 280, 26185, 10.1074/jbc.M503062200 Detmer, 2007, Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations, J. Cell Biol., 176, 405, 10.1083/jcb.200611080 Misko, 2012, Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration, J. Neurosci. Off. J. Soc. Neurosci., 32, 4145, 10.1523/JNEUROSCI.6338-11.2012 Cuesta, 2002, The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot–Marie–Tooth type 4A disease, Nat. Genet., 30, 22, 10.1038/ng798 Niemann, 2009, GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance, Neurobiol. Dis., 36, 509, 10.1016/j.nbd.2009.09.011 Joza, 2001, Essential role of the mitochondrial apoptosis-inducing factor in programmed cell death, Nature, 410, 549, 10.1038/35069004 Xu, 2012, A nonsense mutation in DHTKD1 causes Charcot–Marie–Tooth disease type 2 in a large Chinese pedigree, Am. J. Hum. Genet., 91, 1088, 10.1016/j.ajhg.2012.09.018 Sevilla, 2013, Genetics of the Charcot–Marie–Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth, Clin. Genet., 83, 565, 10.1111/cge.12015 Jordanova, 2006, Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot–Marie–Tooth neuropathy, Nat. Genet., 38, 197, 10.1038/ng1727 Antonellis, 2003, Glycyl tRNA synthetase mutations in Charcot–Marie–Tooth disease type 2D and distal spinal muscular atrophy type V, Am. J. Hum. Genet., 72, 1293, 10.1086/375039 Storkebaum, 2009, Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot–Marie–Tooth neuropathy, Proc. Natl. Acad. Sci. U. S. A., 106, 11782, 10.1073/pnas.0905339106 Latour, 2010, A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot–Marie–Tooth disease, Am. J. Hum. Genet., 86, 77, 10.1016/j.ajhg.2009.12.005 McLaughlin, 2010, Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy, Am. J. Hum. Genet., 87, 560, 10.1016/j.ajhg.2010.09.008 Leal, 2009, Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models, Neurogenetics, 10, 275, 10.1007/s10048-009-0183-3 Zimon, 2012, Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia, Nat. Genet., 44, 1080, 10.1038/ng.2406 Kim, 2007, Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5), Am. J. Hum. Genet., 81, 552, 10.1086/519529 Kim, 2013, Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot–Marie–Tooth disease, Orphanet J. Rare Dis., 8, 104, 10.1186/1750-1172-8-104 Nagarajan, 2001, EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression, Neuron, 30, 355, 10.1016/S0896-6273(01)00282-3 Abrams, 2003, Pathogenesis of X-linked Charcot–Marie–Tooth disease: differential effects of two mutations in connexin 32, J. Neurosci. Off. J. Soc. Neurosci., 23, 10548, 10.1523/JNEUROSCI.23-33-10548.2003 Saporta, 2011, Charcot–Marie–Tooth disease subtypes and genetic testing strategies, Ann. Neurol., 69, 22, 10.1002/ana.22166 Scherer, 1995, Connexin32 is a myelin-related protein in the PNS and CNS, J. Neurosci. Off. J. Soc. Neurosci., 15, 8281, 10.1523/JNEUROSCI.15-12-08281.1995 White, 1999, Genetic diseases and gene knockouts reveal diverse connexin functions, Annu. Rev. Physiol., 61, 283, 10.1146/annurev.physiol.61.1.283 Castro, 1999, Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations, J. Neurosci. Off. J. Soc. Neurosci., 19, 3752, 10.1523/JNEUROSCI.19-10-03752.1999 Kleopa, 2012, How do mutations in GJB1 cause X-linked Charcot–Marie–Tooth disease?, Brain Res., 1487, 198, 10.1016/j.brainres.2012.03.068 Bondurand, 2001, Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot–Marie–Tooth disease, is directly regulated by the transcription factor SOX10, Hum. Mol. Genet., 10, 2783, 10.1093/hmg/10.24.2783 Fecto, 2011, Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies, J. Biol. Chem., 286, 17281, 10.1074/jbc.M111.237685 De Vos, 2008, Role of axonal transport in neurodegenerative diseases, Annu. Rev. Neurosci., 31, 151, 10.1146/annurev.neuro.31.061307.090711 Meier, 1999, Developing Schwann cells acquire the ability to survive without axons by establishing an autocrine circuit involving insulin-like growth factor, neurotrophin-3, and platelet-derived growth factor-BB, J. Neurosci. Off. J. Soc. Neurosci., 19, 3847, 10.1523/JNEUROSCI.19-10-03847.1999 Sahenk, 2005, NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients, Neurology, 65, 681, 10.1212/01.WNL.0000171978.70849.c5 Marro, 2014, Transdifferentiation of mouse fibroblasts and hepatocytes to functional neurons, Methods Mol. Biol., 1150, 237, 10.1007/978-1-4939-0512-6_16 Inoue, 2004, Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations, Nat. Genet., 36, 361, 10.1038/ng1322 Takahashi, 2006, Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors, Cell, 126, 663, 10.1016/j.cell.2006.07.024 Saporta, 2011, Induced pluripotent stem cells in the study of neurological diseases, Stem Cell Res. Ther., 2, 37, 10.1186/scrt78