miRNAs as serum biomarkers for Duchenne muscular dystrophy

EMBO Molecular Medicine

Volumn 3, Issue 5, 2011, Pages 258-265

  Cacchiarelli, Davide ^a   Legnini, Ivano ^a   Martone, Julie ^a   Cazzella, Valentina ^a   D'Amico, Adele ^b   Bertini, Enrico ^b   Bozzoni, Irene ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Biomarkers; Diagnosis; Duchenne muscular dystrophy; MiRNA; Therapy

Indexed keywords

BIOLOGICAL MARKER; CREATINE KINASE; MICRORNA; MICRORNA 1; MICRORNA 133; MICRORNA 206; UNCLASSIFIED DRUG;

ADOLESCENT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BECKER MUSCULAR DYSTROPHY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DISEASE COURSE; DISEASE SEVERITY; DUCHENNE MUSCULAR DYSTROPHY; EXON SKIPPING; HUMAN; MOUSE; MUSCLE INJURY; NONHUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TREATMENT OUTCOME; WILD TYPE;

ANIMALS; BIOLOGICAL MARKERS; CREATINE KINASE; HUMANS; MICE; MICRORNAS; MUSCULAR DYSTROPHY, DUCHENNE; SERUM; SEVERITY OF ILLNESS INDEX;

EID: 79955622637     PISSN: 17574676     EISSN: 17574684     Source Type: Journal    
DOI: 10.1002/emmm.201100133     Document Type: Article

References (29)

1. Aartsma-Rus A, van Ommen GJ (2010) Progress in therapeutic antisense applications for neuromuscular disorders. Eur J Hum Genet 18: 146- 153
2. Cacchiarelli D, Martone J, Girardi E, Cesana M, Incitti T, Morlando M, Nicoletti C, Santini T, Sthandier O, Barberi L, et al (2010) MicroRNAs involved in molecular circuitries relevant for the Duchenne muscular dystrophy pathogenesis are controlled by the dystrophin/nNOS pathway. Cell Metab 12: 341- 351
3. Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT (1988) Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 16: 11141- 11156
4. Cossu G, Sampaolesi M (2007) New therapies for Duchenne muscular dystrophy: challenges, prospects and clinical trials. Trends Mol Med 13: 520- 526
5. Cozzi F, Cerletti M, Luvoni GC, Lombardo R, Brambilla PG, Faverzani S, Blasevich F, Cornelio F, Pozza O, Mora M (2001) Development of muscle pathology in canine X-linked muscular dystrophy. Quantitative characterization of histopathological progression during postnatal skeletal muscle development. Acta Neuropathol 101: 469- 478
6. Crist CG, Buckingham M (2009) MicroRNAs gain magnitude in muscle. Cell Cycle 8: 3627- 3628
7. Crist CG, Buckingham M (2010) Megarole for microRNA in muscle disease. Cell Metab 12: 425- 426
8. Dent KM, Dunn DM, von Niederhausern AC, Aoyagi AT, Kerr L, Bromberg MB, Hart KJ, Tuohy T, White S, den Dunnen JT, et al (2005) Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Am J Med Genet 134: 295- 298
9. Denti MA, Rosa A, D'Antona G, Sthandier O, De Angelis FG, Nicoletti C, Allocca M, Pansarasa O, Parente V, Musarò A, et al (2006a) Body-wide gene therapy of Duchenne muscular dystrophy in the mdx mouse model. Proc Natl Acad Sci USA 103: 3758- 3763
10. Denti MA, Rosa A, D'Antona G, Sthandier O, De Angelis FG, Nicoletti C, Allocca M, Pansarasa O, Parente V, Musarò A, et al (2006b) Chimeric adeno-associated virus/antisense U1 small nuclear RNA effectively rescues dystrophin synthesis and muscle function by local treatment of mdx mice. Hum Gene Ther 17: 565- 574
11. Denti MA, Incitti T, Sthandier O, Nicoletti C, De Angelis FG, Rizzuto E, Auricchio A, Musarò A, Bozzoni I (2008) Long-term benefit of adeno-associated virus/antisense-mediated exon skipping in dystrophic mice. Hum Gene Ther 19: 601- 608
12. Ebashi S, Toyokuma Y, Momoi H, Sugita H (1959) High creatine phosphokinase activity of sera of progressive muscular dystrophy. J Biochem 46: 103- 104
13. Eisenberg I, Eran A, Nishino I, Moggio M, Lamperti C, Amato AA, Lidov HG, Kang PB, North KN, Mitrani-Rosenbaum S, et al (2007) Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci USA 104: 17016- 17021
14. Fazi F, Rosa A, Fatica A, Gelmetti V, De Marchis ML, Nervi C, Bozzoni I (2005) A minicircuitry comprised of microRNA-223 and transcription factors NFI-A and C/EBPalpha regulates human granulopoiesis. Cell 123: 819- 831
15. Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, Harris JB, Waterston R, Brooke M, Specht L, et al (1988) Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 318: 1363- 1368
16. Kim HK, Laor T, Horn PS, Racadio JM, Wong B, Dardzinski BJ (2010) T2 mapping in Duchenne muscular dystrophy: distribution of disease activity and correlation with clinical assessments. Radiology 255: 899- 908
17. Kinali M, Arechavala-Gomeza V, Feng L, Cirak S, Hunt D, Adkin C, Guglieri M, Ashton E, Abbs S, Nihoyannopoulos P, et al (2009) Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol 8: 918- 928
18. Malm C, Nyberg P, Engstrom M, Sjodin B, Lenkei R, Ekblom B, Lundberg I (2000) Immunological changes in human skeletal muscle and blood after eccentric exercise and multiple biopsies. J Physiol 529: 243- 262
19. Mazzone E, Martinelli D, Berardinelli A, Messina S, D'Amico A, Vasco G, Main M, Doglio L, Politano L, Cavallaro F, et al (2010) North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord 20: 712- 716
20. Mitchell PS, Parkin RK, Kroh EM, Fritz BR, Wyman SK, Pogosova-Agadjanyan EL, Peterson A, Noteboom J, O'Briant KC, Allen A, et al (2008) Circulating microRNAs as stable blood-based markers for cancer detection. Proc Natl Acad Sci USA 105: 10513- 10518
21. Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM (1988) An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2: 90- 95
22. Schöler N, Langer C, Döhner H, Buske C, Kuchenbauer F (2010) Serum microRNAs as a novel class of biomarkers: a comprehensive review of the literature. Exp Hematol 38: 1126- 1130
23. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30: 57
24. Søreide K (2009) Receiver-operating characteristic curve analysis in diagnostic, prognostic and predictive biomarker research. J Clin Pathol 62: 1- 5
25. Stockley TL, Akber S, Bulgin N, Ray PN (2006) Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies. Genet Test 10: 229- 243
26. van Deutekom JC, Janson AA, Ginjaar IB, Frankhuizen WS, Aartsma-Rus A, Bremmer-Bout M, den Dunnen JT, Koop K, van der Kooi AJ, Goemans NM, et al (2007) Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 357: 2677- 2686
27. van Rooij E, Liu N, Olson EN (2008a) MicroRNAs flex their muscles. Trends Genet 24: 159- 166
28. van Rooij E, Sutherland LB, Thatcher JE, DiMaio JM, Naseem RH, Marshall WS, Hill JA, Olson EN (2008b) Dysregulation of microRNAs after myocardial infarction reveals a role of miR-29 in cardiac fibrosis. Proc Natl Acad Sci USA 105: 13027- 13032
29. Zatz M, Rapaport D, Vainzof M, Passos-Bueno MR, Bortolini ER, Pavanello Rde C, Peres CA (1991) Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy. J Neurol Sci 102: 190- 196