Muscle gene expression is a marker of amyotrophic lateral sclerosis severity

Neurodegenerative Diseases

Volumn 9, Issue 1, 2011, Pages 38-52

  Pradat, Pierre François ^a   Dubourg, Odile ^a   De Tapia, Marc ^d   Di Scala, Franck ^d   Dupuis, Luc ^d   Lenglet, Timothee ^a   Bruneteau, Gaëlle ^a   Salachas, François ^a   Lacomblez, Lucette ^a,b,c   Corvol, Jean Christophe ^b,c   Demougin, Philippe ^e   Primig, Michael ^e   Meininger, Vincent ^a,b   Loeffler, Jean Philippe ^d   Gonzalez De Aguilar, Jose Luis ^d  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c INSERM   (France)

^d UNIVERSITÉ DE STRASBOURG   (France)

^e UNIVERSITY OF BASEL   (Switzerland)

Author keywords

Amyotrophic lateral sclerosis; Human; Skeletal muscle; Surrogate marker; Transcriptome

Indexed keywords

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DELTOID MUSCLE; DISABILITY; DISEASE SEVERITY; FEMALE; GENE EXPRESSION PROFILING; HUMAN; MALE; MUSCLE INJURY; PRIORITY JOURNAL; RELIABILITY; SENSITIVITY AND SPECIFICITY;

ADOLESCENT; ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; CASE-CONTROL STUDIES; DELTOID MUSCLE; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENETIC MARKERS; HUMANS; MALE; MIDDLE AGED; MUSCULAR ATROPHY;

EID: 80055053362     PISSN: 16602854     EISSN: 16602862     Source Type: Journal    
DOI: 10.1159/000329723     Document Type: Article

References (41)

1. Brooks BR, Miller RG, Swash M, Munsat TL; World Federation of Neurology Research Group on Motor Neuron Diseases: El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000; 1: 293-299.
2. Bryan WW, Reisch JS, McDonald G, Herbelin LL, Barohn RJ, Fleckenstein JL: Magnetic resonance imaging of muscle in amyotrophic lateral sclerosis. Neurology 1998; 51: 110-113. (Pubitemid 28345368)
3. Arts IM, van Rooij FG, Overeem S, Pillen S, Janssen HM, Schelhaas HJ, Zwarts MJ: Quantitative muscle ultrasonography in amyotrophic lateral sclerosis. Ultrasound Med Biol 2008; 34: 354-361. (Pubitemid 351635676)
4. Rutkove SB, Zhang H, Schoenfeld DA, Raynor EM, Shefner JM, Cudkowicz ME, Chin AB, Aaron R, Shiffman CA: Electrical impedance myography to assess outcome in amyotrophic lateral sclerosis clinical trials. Clin Neurophysiol 2007; 118: 2413-2418. (Pubitemid 47539264)
5. Pradat PF, Dib M: Biomarkers in amyotrophic lateral sclerosis: facts and future horizons. Mol Diagn Ther 2009; 13: 115-125.
6. Turner MR, Kiernan MC, Leigh PN, Talbot K: Biomarkers in amyotrophic lateral sclerosis. Lancet Neurol 2009; 8: 94-109.
7. Jokic N, Gonzalez de Aguilar JL, Pradat PF, Dupuis L, Echaniz-Laguna A, Muller A, Dubourg O, Seilhean D, Hauw JJ, Loeffler JP, Meininger V: Nogo expression in muscle correlates with amyotrophic lateral sclerosis severity. Ann Neurol 2005; 57: 553-556. (Pubitemid 40471166)
8. Wojcik S, Engel WK, Askanas V: Increased expression of Nogo-A in ALS muscle biopsies is not unique for this disease. Acta Myol 2006; 25: 116-118. (Pubitemid 46579319)
9. Pasinetti GM, Ungar LH, Lange DJ, Yemul S, Deng H, Yuan X, Brown RH, Cudkowicz ME, Newhall K, Peskind E, Marcus S, Ho L: Identification of potential CSF biomarkers in ALS. Neurology 2006; 66: 1218-1222. (Pubitemid 43739707)
10. Ranganathan S, Nicholl GC, Henry S, Lutka F, Sathanoori R, Lacomis D, Bowser R: Comparative proteomic profiling of cerebrospinal fluid between living and post mortem ALS and control subjects. Amyotroph Lateral Scler 2007; 8: 373-379. (Pubitemid 350176937)
11. Brettschneider J, Mogel H, Lehmensiek V, Ahlert T, Süssmuth S, Ludolph AC, Tumani H: Proteome analysis of cerebrospinal fluid in amyotrophic lateral sclerosis (ALS). Neurochem Res 2008; 33: 2358-2363.
12. Saris CG, Horvath S, van Vught PW, van Es MA, Blauw HM, Fuller TF, Langfelder P, DeYoung J, Wokke JH, Veldink JH, van den Berg LH, Ophoff RA: Weighted gene co-expression network analysis of the peripheral blood from amyotrophic lateral sclerosis patients. BMC Genomics 2009; 10: 405.
13. Gonzalez de Aguilar JL, Niederhauser-Wiederkehr C, Halter B, De Tapia M, Di Scala F, Demougin P, Dupuis L, Primig M, Meininger V, Loeffler JP: Gene profiling of skeletal muscle in an amyotrophic lateral sclerosis mouse model. Physiol Genomics 2008; 32: 207-218. (Pubitemid 351186328)
14. Dubowitz V, Sewry CA: Muscle Biopsy - A Practical Approach. Philadelphia/Amsterdam, Saunders/Elsevier, 2007.
15. Zar JH: Biostatistical Analysis. Upper Saddle River, Prentice Hall, 1999.
16. Dennis G Jr, Sherman BT, Hosack DA, Yang J, Gao W, Lane HC, Lempicki RA: DAVID: database for annotation, visualization, and integrated discovery. Genome Biol 2003; 4:P3.
17. Huang da W, Sherman BT, Lempicki RA: Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc 2009; 4: 44-57.
18. Simon RM, Korn EL, McShane LM, Radmacher MD, Wright GW, Zhao Y: Design and Analysis of DNA Microarray Investigations. New York, Springer, 2003.
19. de Carvalho M, Dengler R, Eisen A, England JD, Kaji R, Kimura J, Mills K, Mitsumoto H, Nodera H, Shefner J, Swash M: Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol 2008; 119: 497-503.
20. Sagot Y, Dubois-Dauphin M, Tan SA, de Bilbao F, Aebischer P, Martinou JC, Kato AC: Bcl-2 overexpression prevents motoneuron cell body loss but not axonal degeneration in a mouse model of a neurodegenerative disease. J Neurosci 1995; 15: 7727-7733.
21. Gould TW, Buss RR, Vinsant S, Prevette D, Sun W, Knudson CM, Milligan CE, Oppenheim RW: Complete dissociation of motor neuron death from motor dysfunction by Bax deletion in a mouse model of ALS. J Neurosci 2006; 26: 8774-8786. (Pubitemid 44319413)
22. Dewil M, de la Cruz VF, Van Den Bosch L, Robberecht W: Inhibition of p38 mitogen activated protein kinase activation and mutant SOD1(G93A)-induced motor neuron death. Neurobiol Dis 2007; 26: 332-341. (Pubitemid 46561336)
23. Rouaux C, Panteleeva I, René F, Gonzalez de Aguilar JL, Echaniz-Laguna A, Dupuis L, Menger Y, Boutillier AL, Loeffler JP: Sodium valproate exerts neuroprotective effects in vivo through CREB-binding protein-dependent mechanisms but does not improve survival in an amyotrophic lateral sclerosis mouse model. J Neurosci 2007; 27: 5535-5545. (Pubitemid 350021087)
24. Suzuki M, McHugh J, Tork C, Shelley B, Klein SM, Aebischer P, Svendsen CN: GDNF secreting human neural progenitor cells protect dying motor neurons, but not their projection to muscle, in a rat model of familial ALS. PLoS ONE 2007; 2:e689.
25. Fischer LR, Glass JD: Axonal degeneration in motor neuron disease. Neurodegener Dis 2007; 4: 431-442. (Pubitemid 47557285)
26. Raffaello A, Laveder P, Romualdi C, Bean C, Toniolo L, Germinario E, Megighian A, Danieli-Betto D, Reggiani C, Lanfranchi G: Denervation in murine fast-twitch muscle: short-term physiological changes and temporal expression profiling. Physiol Genomics 2006; 25: 60-74.
27. Shefner JM, Cudkowicz ME, Schoenfeld D, Conrad T, Taft J, Chilton M, Urbinelli L, Qureshi M, Zhang H, Pestronk A, Caress J, Donofrio P, Sorenson E, Bradley W, Lomen- Hoerth C, Pioro E, Rezania K, Ross M, Pascuzzi R, Heiman-Patterson T, Tandan R, Mitsumoto H, Rothstein J, Smith-Palmer T, MacDonald D, Burke D, NEALS Consortium: A clinical trial of creatine in ALS. Neurology 2004; 63: 1656-1661. (Pubitemid 39507584)
28. Cudkowicz ME, Shefner JM, Schoenfeld DA, Zhang H, Andreasson KI, Rothstein JD, Drachman DB: Trial of celecoxib in amyotrophic lateral sclerosis. Ann Neurol 2006; 60: 22-31.
29. Gordon PH, Moore DH, Miller RG, Florence JM, Verheijde JL, Doorish C, Hilton JF, Spitalny GM, MacArthur RB, Mitsumoto H, Neville HE, Boylan K, Mozaffar T, Belsh JM, Ravits J, Bedlack RS, Graves MC, McCluskey LF, Barohn RJ, Tandan R, Western ALS Study Group: Efficacy of minocycline in patients with amyotrophic lateral sclerosis: a phase III randomised trial. Lancet Neurol 2007; 6: 1045-1053. (Pubitemid 350116691)
30. Eftimie R, Brenner HR, Buonanno A: Myogenin and MyoD join a family of skeletal muscle genes regulated by electrical activity. Proc Natl Acad Sci USA 1991; 88: 1349-1353. (Pubitemid 21916222)
31. Drachman DB, Fambrough DM: Are muscle fibers denervated in myotonic dystrophy? Arch Neurol 1976; 33: 485-488.
32. Dupuis L, Oudart H, René F, Gonzalez de Aguilar JL, Loeffler JP: Evidence for defective energy homeostasis in amyotrophic lateral sclerosis: benefit of a high-energy diet in a transgenic mouse model. Proc Natl Acad Sci USA 2004; 101: 11159-11164. (Pubitemid 38989600)
33. Dobrowolny G, Giacinti C, Pelosi L, Nicoletti C, Winn N, Barberi L, Molinaro M, Rosenthal N, Musarò A: Muscle expression of a local Igf-1 isoform protects motor neurons in an ALS mouse model. J Cell Biol 2005; 168: 193-199. (Pubitemid 40248217)
34. Halter B, Gonzalez de Aguilar JL, Rene F, Petri S, Fricker B, Echaniz-Laguna A, Dupuis L, Larmet Y, Loeffler JP: Oxidative stress in skeletal muscle stimulates early expression of Rad in a mouse model of amyotrophic lateral sclerosis. Free Radic Biol Med 2010; 48: 915-923.
35. Mikhailov AT, Torrado M: The enigmatic role of the ankyrin repeat domain 1 gene in heart development and disease. Int J Dev Biol 2008; 52: 811-821.
36. Nakamura K, Nakada C, Takeuchi K, Osaki M, Shomori K, Kato S, Ohama E, Sato K, Fukayama M, Mori S, Ito H, Moriyama M: Altered expression of cardiac ankyrin repeat protein and its homologue, ankyrin repeat protein with PEST and proline-rich region, in atrophic muscles in amyotrophic lateral sclerosis. Pathobiology 2002-2003; 70: 197-203. (Pubitemid 36828998)
37. Caiozzo VJ, Wu YZ, Baker MJ, Crumley R: Effects of denervation on cell cycle control in laryngeal muscle. Arch Otolaryngol Head Neck Surg 2004; 130: 1056-1068. (Pubitemid 39195389)
38. Jackson RS 2nd, Cho YJ, Liang P: TIS11D is a candidate pro-apoptotic p53 target gene. Cell Cycle 2006; 5: 2889-2893. (Pubitemid 44953942)
39. Jimi T, Wakayama Y, Matsuzaki Y, Hara H, Inoue M, Shibuya S: Reduced expression of aquaporin 4 in human muscles with amyotrophic lateral sclerosis and other neurogenic atrophies. Pathol Res Pract 2004; 200: 203-209. (Pubitemid 38950431)
40. Edwards RH, Round JM, Jones DA: Needle biopsy of skeletal muscle: a review of 10 years experience. Muscle Nerve 1983; 6: 676-683. (Pubitemid 14248440)
41. Cedarbaum JM, Stambler N, Malta E, Fuller C, Hilt D, Thurmond B, Nakanishi A: The ALSFRS-R: a revised ALS functional rating scale that incorporates assessments of respiratory function. BDNF ALS Study Group (Phase III). J Neurol Sci 1999; 169: 13-21. (Pubitemid 29502501)