PMP22 messenger RNA levels in skin biopsies: Testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker

Brain

Volumn 137, Issue 6, 2014, Pages 1614-1620

  Nobbio, Lucilla ^a   Visigalli, Davide ^a   Radice, Davide ^b   Fiorina, Elisabetta ^a   Solari, Alessandra ^c   Lauria, Giuseppe ^c   Reilly, Mary M ^d   Santoro, Lucio ^e   Schenone, Angelo ^a   Pareyson, Davide ^c  

^a UNIVERSITY OF GENOA   (Italy)

^b EUROPEAN INSTITUTE OF ONCOLOGY   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

ascorbic acid; biological marker; CMT1A; PMP22

Indexed keywords

ASCORBIC ACID; BIOLOGICAL MARKER; MESSENGER RNA; PERIPHERAL MYELIN PROTEIN 22; PLACEBO;

ARTICLE; BRAIN ELECTROPHYSIOLOGY; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; GENE EXPRESSION; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; OUTCOME ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SKIN BIOPSY; SURAL NERVE; TRANSCRIPTION REGULATION; TREATMENT DURATION;

ASCORBIC ACID; BIOLOGICAL MARKER; CMT1A; PMP22;

ADULT; BIOLOGICAL MARKERS; BIOPSY; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; GENE EXPRESSION REGULATION; HUMANS; MALE; MIDDLE AGED; MYELIN PROTEINS; PERIPHERAL NERVOUS SYSTEM DISEASES; REAL-TIME POLYMERASE CHAIN REACTION; RNA, MESSENGER; SKIN; SURAL NERVE; YOUNG ADULT;

EID: 84901435143     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu071     Document Type: Article

References (29)

1. Arthur-Farraj P, Wanek K, Hantke J, Davis CM, Jayakar A, Parkinson DB, et al. Mouse schwann cells need both NRG1 and cyclic AMP to myelinate. Glia 2011; 59: 720-33.
2. Bouhy D, Timmerman V. Animal models and therapeutic prospects for Charcot-Marie-Tooth disease. Ann Neurol 2013; 74: 391-6.
3. Burns J, Ouvrier RA, Yiu EM, Joseph PD, Kornberg AJ, Fahey MC, et al. Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial. Lancet Neurol 2009; 8: 537-44.
4. Fledrich R, Stassart RM, Sereda MW. Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease. Br Med Bull 2012; 102: 89-113.
5. Gabreels-Festen AA, Joosten EM, Gabreels FJ, Jennekens FG, Janssenvan Kempen TW. Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I). J Neurol Sci 1992; 107: 145-54.
6. Garcia A, Combarros O, Calleja J, Berciano J. Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study. Neurology 1998; 50: 1061-7.
7. Garcia CA, Malamut RE, England JD, Parry GS, Liu P, Lupski JR. Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication. Neurology 1995; 45: 2090-3.
8. Hanemann CO, Stoll G, D'Urso D, Fricke W, Martin JJ, Van Broeckhoven C, et al. Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies. J Neurosci Res 1994; 37: 654-9.
9. Jang SW, Lopez-Anido C, MacArthur R, Svaren J, Inglese J. Identification of drug modulators targeting gene-dosage disease CMT1A. ACS Chem Biol 2012; 7: 1205-13.
10. Katona I, Wu X, Feely SM, Sottile S, Siskind CE, Miller LJ, et al. PMP22 expression in dermal nerve myelin from patients with CMT1A. Brain 2009; 132: 1734-40.
11. LeGuern E, Gouider R, Mabin D, Tardieu S, Birouk N, Parent P, et al. Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease. Ann Neurol 1997; 41: 104-8.
12. Lewis RA, McDermott MP, Herrmann DN, Hoke A, Clawson LL, Siskind C, et al. High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, doublemasked, controlled trial. JAMA Neurol 2013; 70: 981-7.
13. Li J, Bai Y, Ghandour K, Qin P, Grandis M, Trostinskaia A, et al. Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside. Brain 2005; 128: 1168-77.
14. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991; 66: 219-32.
15. Nishimura T, Yoshikawa H, Fujimura H, Sakoda S, Yanagihara T. Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A. Acta Neuropathol 1996; 92: 454-60.
16. Nobbio L, Visigalli D, Mannino E, Fiorese F, Kassack MU, Sturla L, et al. The diadenosine homodinucleotide P18 improves in vitro myelination in experimental Charcot-Marie-Tooth type 1A. J Cell Biochem 2014; 115: 161-7.
17. Palau F, Lofgren A, De Jonghe P, Bort S, Nelis E, Sevilla T, et al. Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis. Hum Mol Genet 1993; 2: 2031-5.
18. Pareyson D, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L, et al. Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMTTRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol 2011; 10: 320-8.
19. Pareyson D, Schenone A, Fabrizi GM, Santoro L, Padua L, Quattrone A, et al. A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol [EudraCT no.: 2006000032-27]. Pharmacol Res 2006; 54: 436-41.
20. PassageE,Norreel JC,Noack-Fraissignes P,SanguedolceV,Pizant J, ThirionX, et al. Ascorbic acid treatment corrects the phenotype of a mousemodel of Charcot-Marie-Tooth disease. Nat Med 2004; 10: 396-401.
21. Saberan-Djoneidi D, Sanguedolce V, Assouline Z, Levy N, Passage E, Fontes M. Molecular dissection of the Schwann cell specific promoter of the PMP22 gene. Gene 2000; 248: 223-31.
22. Schenone A, Nobbio L, Monti Bragadin M, Ursino G, Grandis M. Inherited neuropathies. Curr Treat Options Neurol 2011; 13: 160-79.
23. Sereda MW, Meyer zu Horste G, Suter U, Uzma N, Nave KA. Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat Med 2003; 9: 1533-7.
24. Suter U. PMP22 gene. In: Lazzarini RA, Griffin GW, Lassman H, Nave KA, Miller R, Trapp BD, editors. Myelin biology and disorders. San Diego: Elsevier Academic Press; 2004. p. 547-64.
25. Suter U, Snipes GJ, Schoener-Scott R, Welcher AA, Pareek S, Lupski JR, et al. Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. J Biol Chem 1994; 269: 25795-808.
26. Vallat JM, Sindou P, Preux PM, Tabaraud F, Milor AM, Couratier P, et al. Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Ann Neurol 1996; 39: 813-7.
27. Verrier JD, Lau P, Hudson L, Murashov AK, Renne R, Notterpek L. Peripheral myelin protein 22 is regulated post-transcriptionally by miRNA-29a. Glia 2009; 57: 1265-79.
28. Weterman MA, van Ruissen F, de Wissel M, Bordewijk L, Samijn JP, van der Pol WL, et al. Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease. Eur J Hum Genet 2010; 18: 421-8.
29. Yoshikawa H, Nishimura T, Nakatsuji Y, Fujimura H, Himoro M, Hayasaka K, et al. Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann Neurol 1994; 35: 445-50.