The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

MPZ  -  myelin protein zero

Homo sapiens

Synonyms: CHM, CMT1, CMT1B, CMT2I, CMT2J, ...
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of MPZ


Psychiatry related information on MPZ

  • CONCLUSIONS: MPZ mutation His39Pro may be associated with acute-onset neuropathy, early-onset hearing loss and restless legs [6].
  • In simple medical classification tasks this dynamic self-learning system can be used to create a DSS that can assist in the quality control of clinical decision making [7].
  • The dynamic range of current, the pitch variation with repetition rate, and the difference limens for repetition rate were found to be similar to MPP and SPP [8].

High impact information on MPZ


Chemical compound and disease context of MPZ

  • Adie's pupil and deafness were often present, and serum creatine kinase concentrations were often raised irrespective of which MPZ mutation was present [13].
  • We now show that point mutations in the cytoplasmic domain that modify a PKC target motif (RSTK) or an adjacent serine residue abolish P0 adhesion function and can cause peripheral neuropathy in humans [14].
  • Two myelin proteins, P2 basic protein and P0 glycoprotein, can induce experimental autoimmune neuritis (EAN), a model of human inflammatory neuropathy [15].
  • CONCLUSIONS: This broadens the range of familial neuropathy associated with MPZ mutations to include steroid responsive neuropathy, initially diagnosed as chronic inflammatory demyelinating polyneuropathy [16].
  • This model predicts that agents which compete with MPP+ binding to neuromelanin should partially protect the dopamine neurons from MPTP-induced toxicity [17].

Biological context of MPZ

  • These axonal and demyelinating phenotypes were well concordant among siblings in individual families, and MPZ mutations did not overlap among these two subgroups, suggesting that the nature and position of the MPZ mutations mainly determine the axonal and demyelinating phenotypes [18].
  • We conclude that the clinical and electrophysiological heterogeneity among CMT patients carrying point mutations in MPZ and GJB1 is similar [1].
  • OBJECTIVES: To expand our understanding of the characteristics of nerve conduction velocity (NCV) in patients with different MPZ mutations, the authors collected and analysed the NCV values from patients with MPZ mutations [19].
  • Subsequent analysis of the coding regions of the MPZ gene was performed with single-strand-conformation polymorphism (SSCP), which was then followed by nucleotide sequencing [20].
  • Here, we demonstrate for the first time that P0 and PMP22 proteins form complexes in the myelin membrane, as shown by coimmunoprecipitation experiments, and that glycosylation is not involved in mediating these interactions [21].

Anatomical context of MPZ


Associations of MPZ with chemical compounds

  • The G308-->A transition was a nonconservative mutation that changed a glycine into a glutamate at the amino acid residue 74 in the extracellular domain of the mature MPZ/P(0) [25].
  • As shown for the animal model of globoid cell dystrophy, it is conceivable that increased expression of MHC class II molecules in CMT1 and HNPP accelerates nerve pathology [26].
  • The MPZ point mutation in 18 of 18 related CMT1B pedigree 1 patients converts a positively charged lysine in codon 96 to a negatively charged glutamate [27].
  • Daily administration of progesterone elevated the steady-state levels of Pmp22 and Mpz mRNA in the sciatic nerve, resulting in enhanced Schwann cell pathology and a more progressive clinical neuropathy [28].
  • The mutation, a methionine substitution for isoleucine at amino acid position 30, is located in the extracellular domain, which constitutes an immunoglobulin domain responsible for the function of P0 as an adhesion molecule [29].

Regulatory relationships of MPZ


Other interactions of MPZ

  • We electrophysiologically, pathologically and genetically evaluated demyelinating and axonal features of 205 Japanese patients with PMP22 duplication, MPZ mutations or Cx32 mutations [18].
  • Here the authors report a family with a Pro22Ser mutation in the neurofilament-light gene (NF-L; CMT2E) manifesting electrophysiologically as the demyelinating type 1 CMT (CMT1) and pathologically as an axonopathy with giant axons and accumulation of disorganized NF [33].
  • The unrelated CMT patients included 108 clinically and electrophysiologically diagnosed CMT1 cases, 32 CMT2 cases, and 34 cases with unspecified CMT [34].
  • Our results demonstrate that PMP22, P0 protein, and myelin basic protein are present in compact myelin of all patients examined [23].
  • Genetic loci for CMT1 map to chromosome 17 (CMT1A), chromosome 1 (CMT1B), and another unknown autosome (CMT1C) [35].

Analytical, diagnostic and therapeutic context of MPZ


  1. Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity. Young, P., Grote, K., Kuhlenbäumer, G., Debus, O., Kurlemann, H., Halfter, H., Funke, H., Ringelstein, E.B., Stögbauer, F. J. Neurol. (2001) [Pubmed]
  2. Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies. Chance, P.F., Fischbeck, K.H. Hum. Mol. Genet. (1994) [Pubmed]
  3. Charcot-Marie-Tooth disease and related inherited neuropathies. Murakami, T., Garcia, C.A., Reiter, L.T., Lupski, J.R. Medicine (Baltimore) (1996) [Pubmed]
  4. A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. De Jonghe, P., Timmerman, V., Nelis, E., De Vriendt, E., Löfgren, A., Ceuterick, C., Martin, J.J., Van Broeckhoven, C. Arch. Neurol. (1999) [Pubmed]
  5. Regulation of myelin-specific gene expression. Relevance to CMT1. Kamholz, J., Awatramani, R., Menichella, D., Jiang, H., Xu, W., Shy, M. Ann. N. Y. Acad. Sci. (1999) [Pubmed]
  6. Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis. Kilfoyle, D.H., Dyck, P.J., Wu, Y., Litchy, W.J., Klein, D.M., Dyck, P.J., Kumar, N., Cunningham, J.M., Klein, C.J. J. Neurol. Neurosurg. Psychiatr. (2006) [Pubmed]
  7. Using the ID3 algorithm to find discrepant diagnoses from laboratory databases of thyroid patients. Forsström, J., Nuutila, P., Irjala, K. Medical decision making : an international journal of the Society for Medical Decision Making. (1991) [Pubmed]
  8. Psychophysical studies evaluating the feasibility of a speech processing strategy for a multiple-channel cochlear implant. Tong, Y.C., Blamey, P.J., Dowell, R.C., Clark, G.M. The Journal of the Acoustical Society of America. (1983) [Pubmed]
  9. PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism? Nelis, E., Holmberg, B., Adolfsson, R., Holmgren, G., van Broeckhoven, C. Nat. Genet. (1997) [Pubmed]
  10. Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. Kulkens, T., Bolhuis, P.A., Wolterman, R.A., Kemp, S., te Nijenhuis, S., Valentijn, L.J., Hensels, G.W., Jennekens, F.G., de Visser, M., Hoogendijk, J.E. Nat. Genet. (1993) [Pubmed]
  11. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Hayasaka, K., Himoro, M., Sato, W., Takada, G., Uyemura, K., Shimizu, N., Bird, T.D., Conneally, P.M., Chance, P.F. Nat. Genet. (1993) [Pubmed]
  12. De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Hayasaka, K., Himoro, M., Sawaishi, Y., Nanao, K., Takahashi, T., Takada, G., Nicholson, G.A., Ouvrier, R.A., Tachi, N. Nat. Genet. (1993) [Pubmed]
  13. An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). Misu, K., Yoshihara, T., Shikama, Y., Awaki, E., Yamamoto, M., Hattori, N., Hirayama, M., Takegami, T., Nakashima, K., Sobue, G. J. Neurol. Neurosurg. Psychiatr. (2000) [Pubmed]
  14. Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination. Xu, W., Shy, M., Kamholz, J., Elferink, L., Xu, G., Lilien, J., Balsamo, J. J. Cell Biol. (2001) [Pubmed]
  15. Induction of experimental autoimmune neuritis with peripheral myelin protein-22. Gabriel, C.M., Hughes, R.A., Moore, S.E., Smith, K.J., Walsh, F.S. Brain (1998) [Pubmed]
  16. Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation. Donaghy, M., Sisodiya, S.M., Kennett, R., McDonald, B., Haites, N., Bell, C. J. Neurol. Neurosurg. Psychiatr. (2000) [Pubmed]
  17. Evidence for neuromelanin involvement in MPTP-induced neurotoxicity. D'Amato, R.J., Alexander, G.M., Schwartzman, R.J., Kitt, C.A., Price, D.L., Snyder, S.H. Nature (1987) [Pubmed]
  18. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. Hattori, N., Yamamoto, M., Yoshihara, T., Koike, H., Nakagawa, M., Yoshikawa, H., Ohnishi, A., Hayasaka, K., Onodera, O., Baba, M., Yasuda, H., Saito, T., Nakashima, K., Kira, J., Kaji, R., Oka, N., Sobue, G. Brain (2003) [Pubmed]
  19. Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation. Lee, Y.C., Soong, B.W., Liu, Y.T., Lin, K.P., Kao, K.P., Wu, Z.A. J. Neurol. (2005) [Pubmed]
  20. Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1. Lee, Y.C., Soong, B.W., Lin, K.P., Lee, H.Y., Wu, Z.A., Kao, K.P. J. Neurol. Sci. (2004) [Pubmed]
  21. Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin. D'Urso, D., Ehrhardt, P., Müller, H.W. J. Neurosci. (1999) [Pubmed]
  22. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Nelis, E., Van Broeckhoven, C., De Jonghe, P., Löfgren, A., Vandenberghe, A., Latour, P., Le Guern, E., Brice, A., Mostacciuolo, M.L., Schiavon, F., Palau, F., Bort, S., Upadhyaya, M., Rocchi, M., Archidiacono, N., Mandich, P., Bellone, E., Silander, K., Savontaus, M.L., Navon, R., Goldberg-Stern, H., Estivill, X., Volpini, V., Friedl, W., Gal, A. Eur. J. Hum. Genet. (1996) [Pubmed]
  23. Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A. Haney, C., Snipes, G.J., Shooter, E.M., Suter, U., Garcia, C., Griffin, J.W., Trapp, B.D. J. Neuropathol. Exp. Neurol. (1996) [Pubmed]
  24. Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice. Scherer, S.S., Xu, Y.T., Messing, A., Willecke, K., Fischbeck, K.H., Jeng, L.J. J. Neurosci. (2005) [Pubmed]
  25. A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B. Fabrizi, G.M., Ferrarini, M., Cavallaro, T., Jarre, L., Polo, A., Rizzuto, N. Neurology (2001) [Pubmed]
  26. Major histocompatibility complex class II expression and macrophage responses in genetically proven Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies. Stoll, G., Gabreëls-Festen, A.A., Jander, S., Müller, H.W., Hanemann, C.O. Muscle Nerve (1998) [Pubmed]
  27. Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients. Su, Y., Brooks, D.G., Li, L., Lepercq, J., Trofatter, J.A., Ravetch, J.V., Lebo, R.V. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  28. Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Sereda, M.W., Meyer zu Hörste, G., Suter, U., Uzma, N., Nave, K.A. Nat. Med. (2003) [Pubmed]
  29. Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B. Hayasaka, K., Takada, G., Ionasescu, V.V. Hum. Mol. Genet. (1993) [Pubmed]
  30. Direct regulation of myelin protein zero expression by the Egr2 transactivator. LeBlanc, S.E., Jang, S.W., Ward, R.M., Wrabetz, L., Svaren, J. J. Biol. Chem. (2006) [Pubmed]
  31. Macrophage colony stimulating factor is a crucial factor for the intrinsic macrophage response in mice heterozygously deficient for the myelin protein P0. M??ller, M., Berghoff, M., Kobsar, I., Kiefer, R., Martini, R. Exp. Neurol. (2007) [Pubmed]
  32. Inhibition of proteolytic, serpinolytic, and progelatinase-b activation activities of periodontopathogens by doxycycline and the non-antimicrobial chemically modified tetracycline derivatives. Grenier, D., Plamondon, P., Sorsa, T., Lee, H.M., McNamara, T., Ramamurthy, N.S., Golub, L.M., Teronen, O., Mayrand, D. J. Periodontol. (2002) [Pubmed]
  33. Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E. Fabrizi, G.M., Cavallaro, T., Angiari, C., Bertolasi, L., Cabrini, I., Ferrarini, M., Rizzuto, N. Neurology (2004) [Pubmed]
  34. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. Mersiyanova, I.V., Ismailov, S.M., Polyakov, A.V., Dadali, E.L., Fedotov, V.P., Nelis, E., Löfgren, A., Timmerman, V., van Broeckhoven, C., Evgrafov, O.V. Hum. Mutat. (2000) [Pubmed]
  35. Inherited peripheral neuropathy. Keller, M.P., Chance, P.F. Seminars in neurology. (1999) [Pubmed]
  36. Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. Roa, B.B., Warner, L.E., Garcia, C.A., Russo, D., Lovelace, R., Chance, P.F., Lupski, J.R. Hum. Mutat. (1996) [Pubmed]
  37. Peripheral myelin protein 22 kDa and protein zero: domain specific trans-interactions. Hasse, B., Bosse, F., Hanenberg, H., Müller, H.W. Mol. Cell. Neurosci. (2004) [Pubmed]
  38. Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Aarskog, N.K., Vedeler, C.A. Hum. Genet. (2000) [Pubmed]
  39. Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes. Street, V.A., Meekins, G., Lipe, H.P., Seltzer, W.K., Carter, G.T., Kraft, G.H., Bird, T.D. Neuromuscul. Disord. (2002) [Pubmed]
WikiGenes - Universities