SMN Protein can be reliably measured in whole blood with an electrochemiluminescence (ECL) Immunoassay: Implications for clinical trials

PLoS ONE

Volumn 11, Issue 3, 2016, Pages

  Zaworski, Phillip ^a   Von Herrmann, Katharine M ^b   Taylor, Shannon ^a   Sunshine, Sara S ^b   Mccarthy, Kathleen ^b   Risher, Nicole ^c   Newcomb, Tara ^d   Weetall, Marla ^c   Prior, Thomas W ^e   Swoboda, Kathryn J ^d   Chen, Karen S ^b   Paushkin, Sergey ^b  

^a PharmOptima   (United States)

^b DARTMOUTH MEDICAL SCHOOL   (United States)

^c F HOFFMANN LA ROCHE LTD   (Switzerland)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CEREBROSPINAL FLUID ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; ELECTROCHEMILUMINESCENCE IMMUNOASSAY; GENE; GENE DOSAGE; HUMAN; HUMAN CELL; IMMUNOASSAY; MOUSE; NEWBORN; NONHUMAN; PATHOGENESIS; PROTEIN ANALYSIS; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SMN1 GENE; SMN2 GENE; SPINAL MUSCULAR ATROPHY; THROMBOCYTE; ANIMAL; BLOOD; CASE CONTROL STUDY; CEREBROSPINAL FLUID; DISEASE MODEL; LUMINESCENCE; METABOLISM; MUSCULAR ATROPHY, SPINAL; PROCEDURES; PROTEIN STABILITY;

ANIMALS; BLOOD PLATELETS; CASE-CONTROL STUDIES; DISEASE MODELS, ANIMAL; HUMANS; IMMUNOASSAY; LUMINESCENT MEASUREMENTS; MICE; MUSCULAR ATROPHY, SPINAL; PROTEIN STABILITY; SMN COMPLEX PROTEINS;

EID: 84962332688     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0150640     Document Type: Article

References (33)

1. Kolb SJ, Kissel JT. Spinal Muscular Atrophy. Neurol Clin 2015 11; 33(4):831-46. doi:10.1016/j.ncl.2015.07.004 PMID: 26515624.
2. Munsat TL, Davies KE. International SMA Consortium Meeting (26-28 June 1992, Bonn, Germany). Neuromuscular Disorders 1992; 2(5-6):423-428. PMID: 1300191.
3. Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology 2014; 83:810-817. doi:10.1212/WNL.0000000000000741 PMID: 25080519.
4. Zerres K, Rudnik-Schöneborn S, Forrest E, Lusakowska A, Borkowska J, Hausmanowa-Petrusewicz I. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci 1997 Feb 27; 146(1):67-72. PMID: 9077498.
5. Darras BT, Jones RH Jr., Ryan MM, De Vivo D, C. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach. 2nd ed.: Elsevier; 2015.
6. Zerres K, Rudnik-Schöneborn S. Natural history in proximal spinal muscular atrophy: Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 1995 05; 52 (5):518-523. PMID: 7733848.
7. Piepers S, Berg LH, Brugman F, Scheffer H, Ruiterkamp-Versteeg M, Engelen BG, et al. A natural history study of late onset spinal muscular atrophy types 3b and 4. J Neurol 2008; 255(9):1400-1404. doi:10.1007/s00415-008-0929-0 PMID: 18575920.
8. Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A 1999; 96(11):6307-6311. PMID: 10339583.
9. Chang H, Hung W, Chuang Y, Jong Y. Degradation of survival motor neuron (SMN) protein is mediated via the ubiquitin/proteasome pathway. Neurochem Int 2004; 45(7):1107-12. PMID: 15337310.
10. Cho S, Dreyfuss G. A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity. Genes Dev 2010; 24(5):438-42. doi:10.1101/gad.1884910 PMID: 20194437.
11. Burnett BG, Muñoz E, Tandon A, Kwon DY, Sumner CJ, Fischbeck KH. Regulation of SMN protein stability. Mol Cell Biol 2009; 29(5):1107-15. doi:10.1128/MCB.01262-08 PMID: 19103745.
12. Naryshkin NA, Weetall M, Dakka A, Narasimhan J, Zhao X, Feng Z, et al. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy. Science 2014 08; 345 (6197):688-693. doi:10.1126/science.1250127 PMID: 25104390.
13. Palacino J, Swalley SE, Song C, Cheung AK, Shu L, Zhang X, et al. SMN2 splice modulators enhance U1-pre-mRNA association and rescue SMA mice. Nat Chem Biol 2015 07; 11(7):511-517. doi:10.1038/nchembio.1837 PMID: 26030728.
14. Rigo F, Hua Y, Krainer AR, Bennett CF. Antisense-based therapy for the treatment of spinal muscular atrophy. J Cell Biol 2012 Oct 1; 199(1):21-25. doi:10.1083/jcb.201207087 PMID: 23027901.
15. Tisdale S, Pellizzoni L. Disease Mechanisms and Therapeutic Approaches in Spinal Muscular Atrophy. Journal of Neuroscience 2015; 35(23):8691-8700. doi:10.1523/JNEUROSCI.0417-152015 PMID: 26063904.
16. Bricceno KV, Martinez T, Leikina E, Duguez S, Partridge Ta, Chernomordik LV, et al. Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics. Hum Mol Genet 2014; 1(18):1-34.
17. Mutsaers Ca, Wishart TM, Lamont DJ, Riessland M, Schreml J, Comley LH, et al. Reversible molecular pathology of skeletal muscle in spinal muscular atrophy. Hum Mol Genet 2011; 20(22):4334-4344. doi:10.1093/hmg/ddr360 PMID: 21840928.
18. Shafey D, Coˆté P,D., Kothary R. Hypomorphic Smn knockdown C2C12 myoblasts reveal intrinsic defects in myoblast fusion and myotube morphology. Exp Cell Res 2005; 311(1):49-61. PMID: 16219305.
19. Czech C, Tang W, Bugawan T, Mano C, Horn C, Iglesias VA, et al. Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls. PLoS ONE 2015 10; 10(10):e0139950-e0139950. doi:10.1371/journal.pone.0139950PMID: 26468953.
20. Steinkellner H, Etzler J, Gmeiner BM, Laccone F. Detection of survival motor neuron protein in buccal cells through electrochemiluminescence-based assay. Assay Drug Dev Technol 2015 Apr; 13(3):167- 173. doi:10.1089/adt.2015.635 PMID: 25848917.
21. Kobayashi DT, Olson RJ, Sly L, Swanson CJ, Chung B, Naryshkin N, et al. Utility of Survival Motor Neuron ELISA for Spinal Muscular Atrophy Clinical and Preclinical Analyses. PLoS ONE 2011 08; 6(8): e24269-e24269. doi:10.1371/journal.pone.0024269 PMID: 21904622.
22. Liu Q, Dreyfuss G. A novel nuclear structure containing the survival of motor neurons protein. EMBO J 1996 Jul 15; 15(14):3555-3565. PMID: 8670859.
23. U.S. Department of Health and Human Services, Food and Drug Administration Center for Drug Evaluation and Research. Guidance for Industry: Bioanalytical Method Validation Draft Guidance. September 2013.
24. McAndrew PE, Parsons DW, Simard LR, Rochette C, Ray PN, Mendell JR, et al. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet 1997 Jun; 60(6):1411-1422. PMID: 9199562.
25. Osborne M, Gomez D, Feng Z, McEwen C, Beltran J, Cirillo K, et al. Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models. Hum Mol Genet 2012 Oct 15; 21(20):4431-4447. PMID: 22802075.
26. Crawford TO, Paushkin SV, Kobayashi DT, Forrest SJ, Joyce CL, Finkel RS, et al. Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study. PLoS One 2012; 7(4):e33572. doi:10.1371/journal.pone.0033572 PMID: 22558076.
27. Kobayashi DT, Decker D, Zaworski P, Klott K, McGonigal J, Ghazal N, et al. Evaluation of peripheral blood mononuclear cell processing and analysis for Survival Motor Neuron protein. PLoS One 2012; 7 (11):e50763. doi:10.1371/journal.pone.0050763 PMID: 23226377.
28. Lefebvre S, Burlet P, Liu Q, Bertrandy S, Clermont O, Munnich A, et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 1997 Jul; 16(3):265-269. PMID: 9207792.
29. Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, et al. A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet 2009 Sep; 85(3):408-413. doi:10.1016/j.ajhg.2009.08.002 PMID: 19716110.
30. Tiziano FD, Lomastro R, Di Pietro L, Barbara Pasanisi M, Fiori S, Angelozzi C, et al. Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. Eur J Hum Genet 2013 Jun; 21(6):630-636. doi:10.1038/ejhg.2012.233 PMID: 23073312.
31. Denis MM, Tolley ND, Bunting M, Schwertz H, Jiang H, Lindemann S, et al. Escaping the nuclear confines: Signal-dependent pre-mRNA splicing in anucleate platelets. Cell 2005 Aug 12; 122(3):379-391. PMID: 16096058.
32. Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold DW, Rutkove SB, et al. Baseline Results of the NeuroNEXT Spinal Muscular Atrophy Infant Biomarker Study. Ann Clin Transl Neurol 2016 Feb; 3 (2):132-145. doi:10.1002/acn3.283PMID: 26900585.
33. Kariya S, Obis T, Garone C, Akay T, Sera F, Iwata S, et al. Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation. J Clin Invest 2014 Feb; 124 (2):785-800. doi:10.1172/JCI72017 PMID: 24463453.