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MAD2L1BP  -  MAD2L1 binding protein

Homo sapiens

Synonyms: CMT2, Caught by MAD2 protein, KIAA0110, MAD2L1-binding protein, dJ261G23.1
 
 
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Disease relevance of MAD2L1BP

  • BACKGROUND: Linkage analysis studies have identified 3 genetically different varieties of hereditary motor and sensory neuropathy type 2 (HMSN 2, also called Charcot-Marie-Tooth disease type 2, or CMT 2): HMSN 2A (linked to 1p35-p36), 2B (to 3q13-q22), and 2D (to 7p14) [1].
  • Charcot-Marie-Tooth (CMT) disease type 2 (CMT2) is an inherited peripheral neuropathy characterized by variable age of onset and normal or slightly diminished nerve conduction velocity [2].
  • The novel C59T mutation in the leader peptide of the MPZ gene is pathogenic and manifests as severe, late-onset, axonal, symmetric sensorimotor polyneuropathy (CMT2) and hyper-CK-emia [3].
  • Charcot-Marie-Tooth (CMT) disease represents a clinically and genetically heterogeneous group of inherited neuropathies caused by aberration of the intimate relationship between the myelin sheath and the axon; disorders causing demyelination are classified as CMT1 and those causing axonal loss as CMT2 [4].
 

Psychiatry related information on MAD2L1BP

  • In a series of 44 consecutive patients with Charcot-Marie-Tooth disease (CMT), we found restless legs syndrome (RLS) in 10 of 27 CMT type 2 (CMT2) patients (37%) and in none of 17 CMT type 1 patients (p = 0.004) [5].
 

High impact information on MAD2L1BP

 

Biological context of MAD2L1BP

  • Our data suggest that P0 mutations account for a detectable proportion of CMT2 cases with virtually every patient harbouring a different mutation but recurrence of the Thr124Met amino acid substitution [8].
  • Still other mutations cause a neuropathy that presents in adults, with normal nerve conduction velocities, designated as a 'CMT2' form of CMT1B [9].
  • In this study we report a multigenerational Russian family with autosomal dominant CMT2 and assign the locus to chromosome 7q11-q21 [10].
  • These findings suggest that the CMT2 phenotype is secondary to at least two different genes and demonstrate further heterogeneity in the CMT phenotype [2].
  • Additional SNAP and SNCV evaluation may be helpful in focusing molecular genetic analysis in the occasional case of CMT2 showing slow motor nerve conduction velocities overlapping with CMT1A values [11].
 

Anatomical context of MAD2L1BP

  • Median nerve motor nerve conduction velocities (MNCV) were always less than 38 m/s in CMT1A patients, whereas this was also the case in 16% of the CMT2 patients [11].
  • Future work on CMT2 should produce insight not only into the cellular interactions of the peripheral nerve especially Schwann cell and axon relationships, but also into idiopathic neuropathy [12].
  • The mechanisms by which mutations disturb the relationship of the myelin sheath and axon are not fully understood; however, we hypothesize that some mutations affect this relationship more profoundly than others, and thus account for the paradox that mutation of a "myelin gene" can present with electrophysiologic features of CMT2 and vice versa [4].
 

Associations of MAD2L1BP with chemical compounds

  • Assessment of cell viability by means of the MTT assay demonstrated a potent dose-dependent cytotoxic effect induced by compound CMT-3 and a less potent effect induced by doxycycline, but no apparent cytotoxic effect in the presence of either CMT-2 or CMT-5 [13].
 

Other interactions of MAD2L1BP

  • Here we report the characterization of a novel MAD2-binding protein, CMT2 [7].

References

  1. Hereditary motor and sensory neuropathy type 2C is genetically distinct from types 2B and 2D. Nagamatsu, M., Jenkins, R.B., Schaid, D.J., Klein, D.M., Dyck, P.J. Arch. Neurol. (2000) [Pubmed]
  2. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Ben Othmane, K., Middleton, L.T., Loprest, L.J., Wilkinson, K.M., Lennon, F., Rozear, M.P., Stajich, J.M., Gaskell, P.C., Roses, A.D., Pericak-Vance, M.A. Genomics (1993) [Pubmed]
  3. Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy. Finsterer, J., Miltenberger, G., Rauschka, H., Janecke, A. Eur. J. Neurol. (2006) [Pubmed]
  4. The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy. Boerkoel, C.F., Takashima, H., Lupski, J.R. Current neurology and neuroscience reports. (2002) [Pubmed]
  5. Charcot-Marie-Tooth disease type 2 with restless legs syndrome. Gemignani, F., Marbini, A., Di Giovanni, G., Salih, S., Terzano, M.G. Neurology (1999) [Pubmed]
  6. Conformation-specific binding of p31(comet) antagonizes the function of Mad2 in the spindle checkpoint. Xia, G., Luo, X., Habu, T., Rizo, J., Matsumoto, T., Yu, H. EMBO J. (2004) [Pubmed]
  7. Identification of a MAD2-binding protein, CMT2, and its role in mitosis. Habu, T., Kim, S.H., Weinstein, J., Matsumoto, T. EMBO J. (2002) [Pubmed]
  8. Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met. Senderek, J., Hermanns, B., Lehmann, U., Bergmann, C., Marx, G., Kabus, C., Timmerman, V., Stoltenburg-Didinger, G., Schröder, J.M. Brain Pathol. (2000) [Pubmed]
  9. Phenotypic clustering in MPZ mutations. Shy, M.E., Jáni, A., Krajewski, K., Grandis, M., Lewis, R.A., Li, J., Shy, R.R., Balsamo, J., Lilien, J., Garbern, J.Y., Kamholz, J. Brain (2004) [Pubmed]
  10. A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Ismailov, S.M., Fedotov, V.P., Dadali, E.L., Polyakov, A.V., Van Broeckhoven, C., Ivanov, V.I., De Jonghe, P., Timmerman, V., Evgrafov, O.V. Eur. J. Hum. Genet. (2001) [Pubmed]
  11. Comparison of CMT1A and CMT2: similarities and differences. Bienfait, H.M., Verhamme, C., van Schaik, I.N., Koelman, J.H., de Visser, B.W., de Haan, R.J., Baas, F., van Engelen, B.G., de Visser, M. J. Neurol. (2006) [Pubmed]
  12. Charcot-Marie-Tooth disease type 2. Vance, J.M. Ann. N. Y. Acad. Sci. (1999) [Pubmed]
  13. Tetracycline derivatives induce apoptosis selectively in cultured monocytes and macrophages but not in mesenchymal cells. Bettany, J.T., Wolowacz, R.G. Adv. Dent. Res. (1998) [Pubmed]
 
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