A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy

PLoS Genetics

Volumn 12, Issue 2, 2016, Pages

  Hong, Young Bin ^a   Joo, Jaesoon ^b   Hyun, Young Se ^c   Kwak, Geon ^b   Choi, Yu Ri ^d   Yeo, Ha Kyung ^d   Jwa, Dong Hwan ^d   Kim, Eun Ja ^a,d   Mo, Won Min ^d   Nam, Soo Hyun ^c   Kim, Sung Min ^c   Yoo, Jeong Hyun ^e   Koo, Heasoo ^e   Park, Hwan Tae ^f   Chung, Ki Wha ^c   Choi, Byung Ok ^a,d  

^a Samsung Medical Center   (South Korea)

^b Sungkyunkwan University   (South Korea)

^c Kongju National University   (South Korea)

^d Sungkyunkwan University School of Medicine   (South Korea)

^e Ewha Womans University School of Medicine   (South Korea)

^f Dong A University   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22; MYELIN BASIC PROTEIN; PMP2 PROTEIN, HUMAN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONTROLLED STUDY; ELECTROPHYSIOLOGY; EXOME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MOTOR NERVE CONDUCTION; MOTOR PERFORMANCE; MOUSE; MUSCLE ATROPHY; MYELIN DEFICIENCY; NERVE BIOPSY; NERVE FIBER DEGENERATION; NONHUMAN; PERIPHERAL NERVOUS SYSTEM; PERIPHERAL NEUROPATHY; PMP2 GENE; SURAL NERVE; TRANSGENIC MOUSE; WILD TYPE; AMINO ACID SEQUENCE; ANIMAL; CHEMISTRY; CHROMOSOME SEGREGATION; COMPUTER SIMULATION; DEMYELINATING DISEASE; DOMINANT GENE; FAMILY; GENETICS; HEK293 CELL LINE; LEG; MOLECULAR GENETICS; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE;

AMINO ACID SEQUENCE; ANIMALS; CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOME SEGREGATION; COMPUTER SIMULATION; DEMYELINATING DISEASES; ELECTROPHYSIOLOGICAL PHENOMENA; FAMILY; FEMALE; GENES, DOMINANT; HEK293 CELLS; HUMANS; LEG; MAGNETIC RESONANCE IMAGING; MALE; MICE, TRANSGENIC; MOLECULAR SEQUENCE DATA; MUTATION; MYELIN P2 PROTEIN; PEDIGREE; PHENOTYPE; SURAL NERVE;

EID: 84959912517     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1005829     Document Type: Article

References (28)

1. Shy ME, Charcot-Marie-Tooth disease: an update. Curr Opin Neurol. 2004;17(5):579–85. 15367862
2. Hahn AF, Brown WF, Koopman WJ, Feasby TE, X-linked dominant hereditary motor and sensory neuropathy. Brain. 1990;113(Pt 5):1511–25. 2245309
3. Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science. 1993;262(5142):2039–42. 8266101
4. Houlden H, Reilly MM, Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease. Neuromolecular Med. 2006;8(1–2):43–62. 16775366
5. Morell P, Quarles RH, Siegel GJ, Agranoff BW, Albers RW, Characteristic Composition of Myelin Basic Neurochemistry: Molecular, Cellular and Medical Aspects. inet al., Basic neurochemistry. Philadelphia, PA: Lippincott-Raven; 1999.
6. Sidman RL, Conover CS, Carson JH, Shiverer gene maps near the distal end of chromosome 18 in the house mouse. Cytogenet. Cell Genet. 1985;39(4):241–5. 2414073
7. Ben Othmane K, Hentati F, Lennon F, Ben Hamida C, Blel S, Roses AD, et al. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet. 1993;2(10):1625–28. 8268915
8. Ben Othmane K, Loeb D, Hayworth-Hodgte R, Hentati F, Rao N, Roses AD, et al. Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A. Genomics. 1995;28(2):286–90. 8530038
9. Zenker J, Stettner M, Ruskamo S, Domènech-Estévez E, Baloui H, Médard JJ, et al. A role of peripheral myelin protein 2 in lipid homeostasis of myelinating Schwann cells. Glia. 2014;62(9):1502–12. doi: 10.1002/glia.2269624849898
10. Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, et al. Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy. Cell Rep. 2015;12(7):1169–83. doi: 10.1016/j.celrep.2015.07.02326257172
11. Hayasaka K, Nanao K, Tahara M, Sato W, Takada G, Miura M, Uyemura K, Isolation and sequence determination of cDNA encoding P2 protein of human peripheral myelin. Biochem Biophys Res Commun. 1991;181(1):204–7. 1720307
12. Gimeno RE, Fatty acid transport proteins. Curr Opin Lipidol. 2007;18(3):271–6. 17495600
13. Chmurzynska A, The multigene family of fatty acid-binding proteins (FABPs): function, structure and polymorphism. J Appl Genet. 2006;47(1):39–48. 16424607
14. Knoll W, Natali F, Peters J, Nanekar R, Wang C, Kursula P, Dynamics of a reconstituted myelin sheath. Spectroscopy. 2010;24:585–92.
15. Smathers RL, Petersen DR, The human fatty acid-binding protein family: evolutionary divergences and functions. Hum Genomics. 2011;5(3):170–91. 21504868
16. Majava V, Polverini E, Mazzini A, Nanekar R, Knoll W, Peters J, et al. Structural and functional characterization of human peripheral nervous system myelin protein P2. PLoS One. 2010;5(4):e10300. doi: 10.1371/journal.pone.001030020421974
17. Sedzik J, Jastrzebski JP, High-resolution structural model of porcine P2 myelin membrane protein with associated fatty acid ligand: fact or artifact?J Neurosci Res. 2011;89(6):909–20. doi: 10.1002/jnr.2261221425316
18. Brill MH, Waxman SG, Moore JW, Joyner RW, Conduction velocity and spike configuration in myelinated fibres: computed dependence on internode distance. J Neurol Neurosurg Psychiatry. 1977;40(8):769–74. 925697
19. Saporta MA, Katona I, Lewis RA, Masse S, Shy ME, Li J, Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A. Brain. 2009;132(Pt 12):3263–73. doi: 10.1093/brain/awp27419923170
20. Court FA, Sherman DL, Pratt T, Garry EM, Ribchester RR, Cottrell DF, et al. Restricted growth of Schwann cells lacking Cajal bands slows conduction in myelinated nerves. Nature. 2004;431(7005):191–5. 15356632
21. Liu N, Varma S, Shooter EM, Tolwani RJ, Enhancement of Schwann cell myelin formation by K252a in the Trembler-J mouse dorsal root ganglion explant culture. J Neurosci Res. 2005;79(3):310–7. 15605381
22. Paternostro-Sluga T, Grim-Stieger M, Posch M, Schuhfried O, Vacariu G, Mittermaier C, et al. Reliability and validity of the Medical Research Council (MRC) scale and a modified scale for testing muscle strength in patients with radial palsy. J Rehabil Med. 2008;40(8): 665–71. doi: 10.2340/16501977-023519020701
23. Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, et al. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. Neurology. 1998;50(4):1074–82. 9566397
24. Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn AF, et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology. 2005;64(7):1209–14. 15824348
25. Tamura K, Peterson D, Peterson N, Stecher G, Nei M, Kumar S, MEGA5: molecular evolutionary genetics analysis using maximum likelihood, evolutionary distance, and maximum parsimony methods. Mol Biol Evol. 2011;28(10):2731–9. doi: 10.1093/molbev/msr12121546353
26. Lee J, Jung SC, Joo J, Choi YR, Moon HW, Kwak G, et al. Overexpression of mutant HSP27 causes axonal neuropathy in mice. J Biomed Sci. 2015;22:43. doi: 10.1186/s12929-015-0154-y26141737
27. Jung J, Cai W, Lee HK, Pellegatta M, Shin YK, Jang SY, et al. Actin polymerization is essential for myelin sheath fragmentation during Wallerian degeneration. J Neurosci. 2011;31(6):2009–15. doi: 10.1523/JNEUROSCI.4537-10.201121307239
28. Shin YK, Jang SY, Park SY, Park JY, Kim JK, Kim JP, et al. Grb2-associated binder-1 is required for neuregulin-1-induced peripheral nerve myelination. J Neurosci. 2014;34(22):7657–62. doi: 10.1523/JNEUROSCI.4947-13.201424872569