Genetic modifiers of duchenne muscular dystrophy and dilated cardiomyopathy

PLoS ONE

Volumn 10, Issue 10, 2015, Pages

  Barp, Andrea ^a   Bello, Luca ^a   Politano, Luisa ^b   Melacini, Paola ^a   Calore, Chiara ^a   Polo, Angela ^a   Vianello, Sara ^a   Sorarù, Gianni ^a   Semplicini, Claudio ^a   Pantic, Boris ^a   Taglia, Antonella ^b   Picillo, Ester ^b   Magri, Francesca ^c   Gorni, Ksenija ^d   Messina, Sonia ^e   Vita, Gian Luca ^e   Vita, Giuseppe ^e   Comi, Giacomo P ^c   Ermani, Mario ^a   Calvo, Vincenzo ^a   Angelini, Corrado ^f   Hoffman, Eric P ^g   Pegoraro, Elena ^a   more..

^a UNIVERSITY OF PADOVA   (Italy)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

^d OSPEDALE NIGUARDA CA GRANDA   (Italy)

^e UNIVERSITY OF MESSINA   (Italy)

^f IRCCS SAN CAMILLO HOSPITAL   (Italy)

^g CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

OSTEOPONTIN; GLUCOCORTICOID; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN; LTBP4 PROTEIN, HUMAN; SPP1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DISEASE FREE SURVIVAL; DUCHENNE MUSCULAR DYSTROPHY; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENOTYPE; HEART LEFT VENTRICLE EJECTION FRACTION; HEART LEFT VENTRICLE ENDDIASTOLIC VOLUME; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LTBP4 GENE; MAJOR CLINICAL STUDY; ONSET AGE; PATHOGENESIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPP1 GENE; YOUNG ADULT; CARDIOMYOPATHY, DILATED; CHILD; COMPLICATION; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; INHERITANCE; KAPLAN MEIER METHOD; MODIFIER GENE; MORTALITY; MUSCULAR DYSTROPHY, DUCHENNE; PROGNOSIS;

ADOLESCENT; CARDIOMYOPATHY, DILATED; CHILD; GENES, MODIFIER; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLUCOCORTICOIDS; HUMANS; INHERITANCE PATTERNS; KAPLAN-MEIER ESTIMATE; LATENT TGF-BETA BINDING PROTEINS; MUSCULAR DYSTROPHY, DUCHENNE; OSTEOPONTIN; PROGNOSIS; YOUNG ADULT;

EID: 84949966946     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0141240     Document Type: Article

References (41)

1. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51:919-928. PMID: 3319190
2. Eagle M, Baudouin SV, Chandler C, Giddings DR, Bullock R, Bushby K. Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord 2002; 12:926-929. PMID: 12467747
3. Nigro G, Comi LI, Politano L, Bain RJ. The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy. Int J Cardiol 1990; 26:271-277. PMID: 2312196
4. Spurney CF. Cardiomyopathy of Duchenne muscular dystrophy: current understanding and future directions. Muscle Nerve 2011; 44:8-19. doi: 10.1002/mus.22097 PMID: 21674516
5. Manzur AY, Kuntzer T, Pike M, Swan A. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev 2008; 23;(1):CD003725.
6. Markham LW, Kinnett K, Wong BL, Woodrow Benson D, Cripe LH. Corticosteroid treatment retards development of ventricular dysfunction in Duchenne muscular dystrophy. Neuromuscul Disord 2008; 18:365-370. doi: 10.1016/j.nmd.2008.03.002 PMID: 18436445
7. Silversides CK, Webb GD, Harris VA, Biggar DW. Effects of deflazacort on left ventricular function in patients with Duchenne muscular dystrophy. Am J Cardiol. 2003; 91:769-772. PMID: 12633823
8. Barber BJ, Andrews JG, Lu Z, West NA, Meaney FJ, Price ET, et al. Oral corticosteroids and onset of cardiomyopathy in Duchenne muscular dystrophy. J Pediatr 2013; 163:1080-1084. doi: 10.1016/j. jpeds.2013.05.060 PMID: 23866715
9. Ashwath ML, Jacobs IB, Crowe CA, Ashwath RC, Super DM, Bahler RC. Left ventricular dysfunction in duchenne muscular dystrophy and genotype. Am J Cardiol 2014; 114:284-289. doi: 10.1016/j. amjcard.2014.04.038 PMID: 24878125
10. Spurney C, Shimizu R, Morgenroth LP, Kolski H, Gordish-Dressman H, Clemens PR, et al. Cooperative International Neuromuscular Research Group Duchenne Natural History Study demonstrates insufficient diagnosis and treatment of cardiomyopathy in Duchenne muscular dystrophy. Muscle Nerve 2014; 50:250-256. doi: 10.1002/mus.24163 PMID: 24395289
11. Bauer R, Macgowan GA, Blain A, Bushby K, Straub V. Steroid treatment causes deterioration of myocardial function in the {delta}-sarcoglycan-deficient mouse model for dilated cardiomyopathy. Cardiovasc Res 2008; 79:652-661. doi: 10.1093/cvr/cvn131 PMID: 18495669
12. Bauer R, Straub V, Blain A, Bushby K, MacGowan GA. Contrasting effects of steroids and angiotensinconverting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy. Eur J Heart Fail 2009; 11:463-471. doi: 10.1093/eurjhf/hfp028 PMID: 19233868
13. Sali A, Guerron AD, Gordish-Dressman H, Spurney CF, Iantorno M, Hoffman EP, et al. Glucocorticoidtreated mice are an inappropriate positive control for long-term preclinical studies in the mdx mouse. PLoS One 2012; 7:e34204. doi: 10.1371/journal.pone.0034204 PMID: 22509280
14. Wang KX, Denhardt DT. Osteopontin: role in immune regulation and stress responses. Cytokine Growth Factor Rev 2008; 19:333-345. doi: 10.1016/j.cytogfr.2008.08.001 PMID: 18952487
15. Uaesoontrachoon K, Yoo HJ, Tudor EM, Pike RN, Mackie EJ, Pagel CN. Osteopontin and skeletal muscle myoblasts: association with muscle regeneration and regulation of myoblast function in vitro. Int J Biochem Cell Biol 2008; 40:2303-2314. doi: 10.1016/j.biocel.2008.03.020 PMID: 18490187
16. Uaesoontrachoon K, Wasgewatte Wijesinghe DK, Mackie EJ, Pagel CN. Osteopontin deficiency delays inflammatory infiltration and the onset of muscle regeneration in a mouse model of muscle injury. Dis Model Mech 2013; 6:197-205. doi: 10.1242/dmm.009993 PMID: 22917925
17. Vetrone SA, Montecino-Rodriguez E, Kudryashova E, Kramerova I, Hoffman EP, Liu SD, et al. Osteopontin promotes fibrosis in dystrophic mouse muscle by modulating immune cell subsets and intramuscular TGF-beta. J Clin Invest 2009; 119:1583-1594. doi: 10.1172/JCI37662 PMID: 19451692
18. Hullinger TG, Pan Q, Viswanathan HL, Somerman MJ. TGFbeta and BMP-2 activation of the OPN promoter: roles of smad-and hox-binding elements. Exp Cell Res 2001; 262:69-74. PMID: 11120606
19. Pegoraro E, Hoffman EP, Piva L, Gavassini BF, Cagnin S, Ermani M, et al. SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. Neurology 2011; 76:219-226. doi: 10.1212/WNL.0b013e318207afeb PMID: 21178099
20. Zanotti S, Gibertini S, Di Blasi C, Cappelletti C, Bernasconi P, Mantegazza R, et al. Osteopontin is highly expressed in severely dystrophic muscle and seems to play a role in muscle regeneration and fibrosis. Histopathology 2011; 59:1215-1228. doi: 10.1111/j.1365-2559.2011.04051.x PMID: 22175901
21. Piva L, Gavassini BF, Bello L, Fanin M, Soraru G, Barp A, et al. TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle. J Pathol 2012; 228:251-259. doi: 10.1002/path.4026 PMID: 22431140
22. Waller AH, Sanchez-Ross M, Kaluski E, Klapholz M. Osteopontin in cardiovascular disease: a potential therapeutic target. Cardiol Rev 2010; 18:125-131. doi: 10.1097/CRD.0b013e3181cfb646 PMID: 20395697
23. Renault MA, Robbesyn F, Réant P, Douin V, Daret D, Allières C, et al. Osteopontin expression in cardiomyocytes induces dilated cardiomyopathy. Circ Heart Fail 2010; 3:431-439. doi: 10.1161/CIRCHEARTFAILURE.109.898114 PMID: 20200330
24. Bello L, Piva L, Barp A, Taglia A, Picillo E, Vasco G, et al. Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology 2012; 79:159-162. doi: 10.1212/WNL. 0b013e31825f04ea PMID: 22744661
25. Bello L, Kesari A, Gordish-Dressman H, Cnaan A, Morgenroth LP, Punetha J, et al. Genetic modifiers of ambulation in the CINRG Duchenne Natural History Study. Ann Neurol 2015; doi: 10.1002/ana. 24370 PMID: 25641372
26. Flanigan KM, Ceco E, Lamar KM, Kaminoh Y, Dunn DM, Mendell JR, et al. LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Ann Neurol 2013; 73:481-488. doi: 10.1002/ana.23819 PMID: 23440719
27. van den Bergen JC, Hiller M, Böhringer S, Vijfhuizen L, Ginjaar HB, Chaouch A, et al. Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants. J Neurol Neurosurg Psychiatry 2014; doi: 10.1136/jnnp-2014-308409 PMID: 25476005
28. Giacopelli F, Marciano R, Pistorio A, Catarsi P, Canini S, Karsenty G, et al. Polymorphisms in the osteopontin promoter affect its transcriptional activity. Physiol Genomics 2004; 20:87-96. PMID: 15479859
29. Barfield WL, Uaesoontrachoon K, Wu CS, Lin S, Chen Y, Wang PC, et al. Eccentric muscle challenge shows osteopontin polymorphism modulation of muscle damage. Hum Mol Genet 2014; 23:4043-4050. doi: 10.1093/hmg/ddu118 PMID: 24626632
30. Heydemann A, Ceco E, Lim JE, Hadhazy M, Ryder P, Moran JL, et al. Latent TGF-beta-binding protein 4 modifies muscular dystrophy in mice. J Clin Invest 2009; 119:3703-3712. doi: 10.1172/JCI39845 PMID: 19884661
31. Ceco E, McNally EM. Modifying muscular dystrophy through transforming growth factor-β. FEBS J 2013; 280:4198-4209. doi: 10.1111/febs.12266 PMID: 23551962
32. Ceco E, Bogdanovich S, Gardner B, Miller T, DeJesus A, Earley JU, et al. Targeting latent TGFβ release in muscular dystrophy. Sci Transl Med 2014; 6:259ra144. doi: 10.1126/scitranslmed.3010018 PMID: 25338755
33. Schiller NB, Shah PM, Crawford M, DeMaria A, Devereux R, Feigenbaum H, et al. Recommendations for quantitation of left ventricle by two-dimensional echocardiography. American Society of Echocardiography Committee on Standards, Subcommittee on Quantitation of Two-Dimensional Echocardiograms. J Am Soc Echocardiogr 1989; 2:358-367. PMID: 2698218
34. Nagueh SF, Bierig SM, Budoff MJ, Desai M, Dilsizian V, Eidem B, et al. Clinical recommendations for multimodality cardiovascular imaging of patients with hypertrophic cardiomyopathy. J Am Soc Echocardiogr 2011; 24:473-98. doi: 10.1016/j.echo.2011.03.006 PMID: 21514501
35. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. PLINK: a tool set for wholegenome association and population-based linkage analyses. Am J Hum Genet 2007; 81:559-755. PMID: 17701901
36. Jefferies JL, Eidem BW, Belmont JW, Craigen WJ, Ware SM, Fernbach SD, et al. Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation 2005; 112:2799-2804. PMID: 16246949
37. Duboc D, Meune C, Lerebours G, Devaux JY, Vaksmann G, Bécane HM. Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy. J Am Coll Cardiol 2005; 45:855-857. PMID: 15766818
38. Raman SV, Hor KN, Mazur W, Halnon NJ, Kissel JT, He X, et al. Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomised, double-blind, placebo-controlled trial. Lancet Neurol 2014; doi: 10.1016/S1474-4422(14)70318-7 PMID: 25554404
39. Hoffman EP, Gordish-Dressman H, McLane VD, Devaney JM, Thompson PD, Visich P, et al. Alterations in osteopontin modify muscle size in females in both humans and mice. Med Sci Sports Exerc 2013; 45:1060-1068. doi: 10.1249/MSS.0b013e31828093c1 PMID: 23274598
40. Pane M, Mazzone ES, Sormani MP, Messina S, Vita GL, Fanelli L, et al. 6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes. PLOS One 2014 8;9:e83400.
41. van den Bergen JC, Ginjaarb HB, Niksa EH, Aartsma-Rus A, Verschuuren JJGM. Prolonged Ambulation in Duchenne Patients with a Mutation Amenable to Exon 44 Skipping. J Neuromusc Dis 2014; 1:91-94.