Keywords
CMT
HMSN
genetics
Costa Rica
enfermedad de charcot-marie-tooth
CMT
HMSN
genética
Costa Rica
How to Cite
Abstract
Hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth disease (CMT) is the most common hereditary illness of the peripheral nervous system. The genetics and the physiopathological aspects of the disease clarified until know, are here summarized. More than twenty genes and ten additional loci have been related with HMSN. These findings contribute to understand the metabolism of peripheral nerves and give the basis for molecular diagnostics and future therapy. Several Costa Rican families with CMT have been identified, specially with axonal forms. Two families present mutations in the myelin protein zero gene (MPZ). In addition, linkage have been found between the disease and locus 19q13.3 in an extended family, and a mutation segregating with the disease is present in a candidate gene of the critical interval. Costa Rica has several advantages for genetical studies, that can contribute importantly in the generation of knowledge in the neurogenetical field.References
Antonellis, A., R.E. Ellsworth, N. Sambuughin, I. Puls, A. Abel, S.Q.Lee-Lin, A. Jordanova, I. Kremensky, K. Christodoulou, L.T. Middleton, K. Sivakumar, V. Ionasescu, B. Funalot, J.M. Vance, L.G. Goldfarb, K.H. Fischbeck & E.D. Green. 2003. Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V. Am. J. Hum. Genet. 72: 1293-1299.
Azzedine, H., A. Bolino, T. Taieb, N. Birouk, M. Di Duca, A. Bouhouche, S. Benamou, A. Mrabet, T. Hammadouche, T. Chkili, R. Gouider, R. Ravazzolo, A. Brice, J. Laporte & E. LeGuern. 2003. Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early- Onset Glaucoma. Am. J. Hum. Genet. 72: 1141- 1153.
Balice-Gordon, R.J., L.J. Bone & S.S. Scherer. 1998. Functional gap junctions in the schwann cell myelin sheath. J. Cell Biol. 142: 1095-1104.
Baxter, R.V., K. Ben Othmane, J.M. Rochelle, J.E. Stajich, C. Hulette, S. Dew-Knight, F. Hentati, M. Ben Hamida, S. Bel, J.E. Stenger, J.R. Gilbert, M.A. Pericak-Vance & J.M. Vance. 2002. Gangliosideinduced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat. Genet. 30: 21-22.
Berger, P., P. Young & U. Suter. 2002. Molecular cell biology of Charcot-Marie-Tooth disease. Neurogenet. 4: 1-15.
Boerkoel, C.F., H. Takashima, C.A. Garcia, R.K. Olney, J. Johnson, K. Berry, P. Russo, S. Kennedy, A.S. Teebi,
M. Scavina, L.L. Williams, P. Mancias, I.J. Butler, K. Krajewski, M. Shy & J.R. Lupski. 2002. Charcot- Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann. Neurol. 51: 190-201.
Bomont, P., L. Cavalier, F. Blondeau, C. Ben Hamida, S. Belal, M. Tazir, E. Demir, H. Topaloglu, R. Korinthenberg, B. Tuysuz, P. Landrieu, F. Hentati & M. Koenig. 2000. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat. Genet. 26: 370-374.
Brownlees, J., S. Ackerley, A.J. Grierson, N.J. Jacobsen, K. Shea, B.H. Anderton, P.N. Leigh, C.E. Shaw & C.C. Miller. 2002. Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport. Hum. Mol. Genet. 11: 2837-2844.
Combarros, O., J. Calleja, J.M. Polo & J. Berciano. 1987. Prevalence of hereditary motor and sensory neuropathy in Cantabria. Acta Neurol. Scand. 75: 9-12.
Cuesta, A., L. Pedrola, T. Sevilla, J. Garcia-Planells, M.J. Chumillas, F. Mayordomo, E. LeGuern, I. Marin, J.J. Vilchez & F. Palau. 2002. The gene encoding ganglioside- induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat. Genet. 30: 22-25.
De Jonghe, P., V. Timmerman, C. Ceuterick, E. Nelis, E. De Vriendt, A. Löfgren, A. Vercruyssen, C. Verellen,
L. Van Maldergem, J. Martin & C. Van Broeckhoven. 1999. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 122: 281-290.
Delague, V., C. Bareil, S. Tuffery, P. Bouvagnet, E. Chouery, S. Koussa, T. Maisonobe, J. Loiselet, A. Megarbane & M. Claustres. 2000. Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. Am. J. Hum. Genet. 67: 236-243.
De Sandre-Giovannoli, A., M. Chaouch, S. Kozlov, J.M. Vallat, M. Tazir, N. Kassouri, P. Szepetowski, T. Hammadouche, A. Vandenberghe, C.L. Stewart, D. Grid & N. Levy. 2002. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am. J. Hum. Genet. 70: 726-736.
D`Urso, D., P. Ehrhardt & H-W. Mueller. 1999. Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin. J. Neurosci. 19: 3396-3403.
Dyck, P., P. Chance, R. Lebo & J. Carney. 1993. Hereditary motor and sensory neuropathies, p.p. 1094-1136. In P. Dyck, P. Thomas, J. Griffin, P. Low & J. Poduslo (eds.). Peripheral neuropathies, Saunders, Philadelphia.
Dyck, P.J. & E.H. Lambert. 1968a. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy: I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch. Neurol. 18: 603-618.
Dyck, P.J. & E.H. Lambert. 1968b. Lower motor and primary sensory neuron diseases with peroneal muscular
atrophy: II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations. Arch. Neurol. 18: 619-625.
Holmberg, B.H. 1993. Charcot-Marie-Tooth disease in northern Sweden: an epidemiological and clinical study. Acta Neurol. Scand. 87: 416-422.
Jetten, A.M. & U. Suter. 2000. The peripheral myelin protein 22 and epithelial membrane protein family. Prog Nucleic Acid. Res. Mol. Biol. 64: 97-129.
Jordens, I., M. Fernandez-Borja, M. Marsman, S. Dusseljee, L. Janssen, J. Calafat, H. Janssen, R. Wubbolts & J. Neefjes. 2001. The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motors. Curr. Biol. 11: 1680-1685.
Kalaydjieva, L., D. Gresham, R. Gooding, L. Heather, F. Baas, R. de Jonge, K. Blechschmidt, D. Angelicheva, D. Chandler, P. Worsley, A. Rosenthal, R.H. King, & P.K. Thomas. 2000. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am. J. Hum. Genet. 67: 47-58.
Leal, A., C. Berghoff, M. Berghoff, G. Del Valle, C. Contreras, O. Montoya, E. Hernández, R. Barrantes, A. Reis, B. Rautenstrauss & D. Heuss. 2003. Charcot-Marie-Tooth disease: A novel Tyr145Ser mutation in the Myelin Protein Zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family. Neurogenet. 4: 191-197.
Leal, A., B. Morera, G. Del Valle, D. Heuss, C. Kayser, M. Berhoff, R. Villegas, E. Hernández, M. Méndez, H.C. Hennies, B. Neundoerfer, R. Barrantes, A. Reis & B. Rautenstrauss. 2001. A second locus for an axonal form of autosomal recessive Charcot-Marie- Tooth disease maps to Chromosome 19q13.3. Am. J. Hum. Genet. 68: 269-274.
Lupski, J. 1998. Molecular genetics of peripheral neuropathies. pp. 239-256. In Martin, J. (ed.) Scientific
American Molecular Neurology. New York: Scientific American Library. Lupski, J.R., P.F. Chance & C.A. Garcia. 1993. Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP. J. Am. Med. Ass. 270: 2326-2330.
Lupski, J.R., R.M. de Oca-Luna, S. Slaugenhaupt, L. Pentao, V. Guzzetta, B.J. Trask, O. Saucedo- Cardenas, D.F. Barker, J.M. Killian, C.A. Garcia, A. Chakravarti & P.I. Patel. 1991. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66: 219-232.
Mersiyanova, I.V., S.M. Ismailov, A.V. Polyakov, E.L. Dadali, V.P. Fedotov, E. Nelis, A. Lofgren, V. Timmerman, C. van Broeckhoven & O.V. Evgrafov. 2000a. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. Hum. Mutat. 15: 340-347.
Mersiyanova, I.V., A.V. Perepelov, A.V. Polyakov, V.F. Sitnikov, E.L. Dadali, R.B. Oparin, A.N. Petrin & O.V. Evgrafov. 2000b. A new variant of Charcot- Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene [see comments]. Am. J. Hum. Genet. 67: 37-46.
Myokai, F., S. Takashiba, R. Lebo & S. Amar. 1999. A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment. Proc. Nat. Acad. Sci. USA 96: 4518-4523.
Naef, R. & U. Suter. 1999. Impaired intracellular trafficking is a common disease mechanism of PMP22 point
mutations in peripheral neuropathies. Neurobiol. Dis. 6: 1-14.
Nelis, E., C. Van Broeckhoven, P. De Jonghe, A. Lofgren, A. Vandenberghe, P. Latour, E. Le Guern, A. Brice, M.L. Mostacciuolo, F. Schiavon, F. Palau, S. Bort, M. Upadhyaya, M. Rocchi, N. Archidiacono, P. Mandich, E. Bellone, K. Silander, M.L. Savontaus, R. Navon, H. Goldberg-Stern, X. Estivill, V. Volpini, W. Friedl & A. Gal. 1996. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur. J. Hum. Genet. 4: 25-33.
Parkinson, N.J., C.L. Olsson, J.L. Hallows, J. McKee- Johnson, B.P. Keogh, K. Noben-Trauth, S.G. Kujawa & B.L. Tempel. 2001. Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice. Nat. Genet. 29: 61-65.
Patel, P.I. & J.R. Lupski. 1994. Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited
disease. T.I.G. 10: 128-132.
Senderek, J., C. Bergmann, S. Weber, U.P. Ketelsen, H. Schorle, S. Rudnik-Schoneborn, R. Buttner, E. Buchheim & K. Zerres. 2003. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum. Mol. Genet. 12: 349-356.
Sherman, D.L., C. Fabrizi, C.S. Gillespie & P.J. Brophy. 2001. Specific disruption of a schwann cell dystrophin- related protein complex in a demyelinating neuropathy. Neuron 30: 677-687.
Street, V.A., C.L. Bennett, J.D. Goldy, A.J. Shirk, K.A. Kleopa, B.L. Tempel, H.P. Lipe, S.S. Scherer, T.D. Bird & P.F. Chance. 2003. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot- Marie-Tooth disease 1C. Neurology 60: 22-26.
Skre, H. 1974. Genetic and clinical aspects of Charcot- Marie-Tooth’s disease. Clin. Genet. 6: 98-118.
Suter, U. 1997. Myelin: keeping nerves well wrapped up. Curr. Biol. 7: R21-23.
Timmerman, V., E. Nelis, W. Van Hul, B.W. Nieuwenhuijsen, K.L. Chen, S. Wang, K. Ben Othman, B. Cullen, R.J. Leach & C.O. Hanemann 1992. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat. Genet. 1: 171-175.
Verhoeven, K., P. De Jonghe, K. Coen, N. Verpoorten, M. Auer-Grumbach, J.M. Kwon, D. FitzPatrick, E. Schmedding, E. De Vriendt, A. Jacobs, V. Van Gerwen, K. Wagner, H.P. Hartung & V. Timmerman. 2003. Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy. Am. J. Hum. Genet. 72: 722-7.
Warner, L.E., C.A. Garcia & J.R. Lupski. 1999. Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms. Annu. Rev. Med. 50: 263-275.
Young, P., K. Grote, G. Kuhlenbaumer, O. Debus, H. Kurlemann, H. Halfter, H. Funke, E.B. Ringelstein & F. Stogbauer. 2001. Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity. J. Neurol. 248: 410-415.
Zhao, C., J. Takita, Y. Tanaka, M. Setou, T. Nakagawa, S. Takeda, H.W. Yang, S. Terada , T. Nakata, Y. Takei, M. Saito, S. Tsuji, Y. Hayashi & N. Hirokawa. 2001. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell 105: 587-597.
Zuechner, S., I. V. Mersiyanova, M.Muglia, N. Bissar- Tadmouri, J. Rochelle, E.L. Dadali, M. Zappia, E. Nelis, A. Patitucci, J. Senderek, Y. Parman, O. Evgrafov, P.D. Jonghe, Y. Takahashi, S. Tsuji, M.A. Pericak-Vance, A. Quattrone, E. Battaloglu, A.V. Polyakov, V. Timmerman, J.M. Schroder, J.M. Vance & E. Battologlu. 2004. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat. Genet. 36: 449-451.
INTERNET REFERENCES
Bird, T. 2002. Charcot-Marie-Tooth Neuropathy Overview. University of Washington, Seattle, USA. (Downloaded: November 12, 2003, http://www.geneclinics.org).
Nelis, E., M. Cruts & H. Wouters. 2004. Inherited Peripheral Neuropathies Mutation Database. University of Antwerp, Antwerp, Belgium. (Downloaded: November 12, 2003, http://www.molgen. ua.ac.be/CMTMutations/default.cfm).
Pestronk, A. 2004. Hereditary Motor Sensory Neuropathies Database. Washington University, St. Louis, MO,
USA. (Downloaded: November 12, 2003, http://www.neuro.wustl.edu/neuromuscular/time/hm sn.html).
Comments
This work is licensed under a Creative Commons Attribution 4.0 International License.
Copyright (c) 2004 Revista de Biología Tropical