Challenges and opportunities in mass spectrometric analysis of proteins from dried blood spots

Expert Review of Proteomics

Volumn 11, Issue 6, 2014, Pages 685-695

  Martin, Nicholas J ^a   Cooper, Helen J ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

biomarkers; clinical diagnostics; dried blood spots; mass spectrometry; proteins; proteomics

Indexed keywords

C REACTIVE PROTEIN; CERULOPLASMIN; EXENDIN 4; FC FUSION PROTEIN; HEMOGLOBIN; HYBRID PROTEIN; LYSOSOME ENZYME; PEGDINETANIB; PEGINESATIDE; PLASMA PROTEIN; PROTEIN; SOMATOMEDIN C; UNCLASSIFIED DRUG; BIOLOGICAL MARKER;

ASSAY; CAPILLARY BLOOD; DRIED BLOOD SPOT TESTING; HEMATOCRIT; HUMAN; MASS SPECTROMETRY; MULTIPLE REACTION MONITORING ASSAY; NONHUMAN; PROTEIN ANALYSIS; PROTEOMICS; REVIEW; SELECTIVE REACTION MONITORING ASSAY; STANDARD; VENOUS BLOOD; BLOOD; PROCEDURES;

BIOLOGICAL MARKERS; DRIED BLOOD SPOT TESTING; HUMANS; MASS SPECTROMETRY; PROTEINS; PROTEOMICS;

EID: 84910608263     PISSN: 14789450     EISSN: 17448387     Source Type: Journal    
DOI: 10.1586/14789450.2014.965158     Document Type: Review

References (88)

1. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963;32:338-43
2. Guthrie R. Blood screening for phenylketonuria. J Am Med Assoc 1961;178:863
3. McKay J R Diagnosis and treatment: risks of obtaining samples of venous blood in infants. Pediatrics 1966;38:906-8
4. Déglon J, Lauer E, Thomas A, et al. Use of the dried blood spot sampling process coupled with fast gas chromatography and negative-ion chemical ionization tandem mass spectrometry: application to fluoxetine, norfluoxetine, reboxetine and paroxetine analysis. Anal Bioanal Chem 2009;396: 2523-32
5. Chin J, Schmidt NJ, Lennette EH, et al. Filter paper disc method of collecting whole blood for serologic studies in children. Am J Epidemiol 1966;84:74-80
6. Déglon J, Thomas A, Mangin P, et al. Direct analysis of dried blood spots coupled with mass spectrometry: concepts and biomedical applications. Anal Bioanal Chem 2012;402:2485-98
7. Li W, Tse FL. Dried blood spot sampling in combination with LC-MS/MS for quantitative analysis of small molecules. Biomed Chromatogr 2009;24:49-65
8. UK National Screening Commitee. Guidelines for newborn blood spot sampling. 2012. ISBN 978-0-9562374-2-2
9. Vertanen H, Fellman V, Brommels M, et al. An automatic incision device for obtaining blood samples from the heels of preterm infants causes less damage than a conventional manual lancet. Arch Dis Child Fetal Neonatal Ed 2001;84:F53-5
10. Blood collection on filter paper for newborn screening programmes; Approved standard. Sixth edition. CLSI document NBS01-A6 Clinical and Laboratory Standards Institute; 2013
11. Cheung Yuen C, Van der Heijden J, Hoogtanders K, et al. Dried blood spot measurement: application in tacrolimus monitoring using limited sampling strategy and abbreviated AUC estimation. Transpl Int 2007;21:140
12. Alvarez-Munoz MT, Zaragoza-Rodríguez S, Rojas-Montes O, et al. High correlation of human immunodeficiency virus type-1 viral load measured in dried-blood spot samples and in plasma under different storage conditions. Arch Med Res 2004;36:382-6
13. Spooner N, Lad R, Barfield M. Dried blood spots as a sample collection technique for the determination of pharmacokinetics in clinical studies: considerations for the validation of a quantitative bioanalytical method. Anal Chem 2009;81:1557-63
14. Mei JV, Alexander RJ, Adam BW, et al. Use of filter paper for the collection and analysis of human whole blood specimens. J Nutr 2001;131:1631S-6S
15. Therrel LB, Hannon HW, Pass KA, et al. Guidelines for the retention, storage, and use of residual dried blood spot samples after newborn screening analysis: statement of the council of regional networks for genetic services. Biochem Mol Med 1996;57:116-24
16. Stevens WS, Scott LE, Crowe SM. Quantifying HIV for monitoring antiretroviral therapy in resource-poor settings. J Infect Dis 2010;201:S16-26
17. Viljoen J, Gampini S, Danaviah S, et al. Dried blood spot HIV-1 RNA quantification using open real-time systems in South Africa and Burkina Faso. J Acquir Immune Defic Syndr 2010;55:290-8
18. Johannessen A, Garrido C, Zahonero N, et al. Dried blood spots perform well in viral load monitoring of patients who receive antiretroviral treatment in rural Tanzania. Clin Infect Dis 2009;49:976-81
19. Parker SP, Cubitt WD. The use of the dried blood spot sample in epidemiological studies. J Clin Pathol 1999;52:633-9
20. Therrell BL, Adams J. Newborn screening in North America. J Inherit Metab Dis 2007;30:447-65
21. Naylor EW, Guthrie R. Newborn screening for maple syrup urine disease (branched-chain ketoaciduria). Pediatrics 1978;61: 262-6
22. Crossle JR, Elliot RB, Smith PA. Dried-blood spot screening for cystic fibrosis in the newborn. Lancet 1979;313: 472-4
23. Fisher DA, Burrow GN, Dussault JH, et al. Recommendations for screening programs for congenital hypothyroidism report of a committee of the american thyroid association Am J Med. 1976;61:932-4
24. Garrick MD, Dembure P, Guthrie R. Sickle-cell anemia and other hemoglobinopathies procedures and strategy for screening employing spots of blood on filter paper as specimens. N Engl J Med 1973;288:1265-8
25. Chace DH, Mlllington DS, Terada N, et al. Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem 1993;39: 66-71
26. Millington DS, Kodo N, Norwood DL, et al. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis 1990;13:321-4
27. Naylor EW, Chace DH. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neur 1999;14:S4-8
28. Chace DH, Sherwin JE, Hillman SL, et al. Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours. Clin Chem 1998;44:2405-9
29. Chace DH, Hiliman SL, Milington DS, et al. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin Chem 1995;41:62-8
30. Chace DH, Hillman SL, Millington DS, et al. Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry. Clin Chem 1996;42:349-55
31. Lai CC, Tsai CH, Tsai FJ, et al. Rapid monitoring assay of congenital adrenal hyperplasia with microbore high-performance liquid chromatography/electrospray ionization tandem mass spectrometry from dried blood spots. Rapid Commun Mass Spectrom 2001;15:2145-51
32. Lacey JM, Minutti CZ, Magera MJ, et al. Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem 2004;50: 621-5
33. Zytkovicz TH, Fitzgerald EF, Marsden D, et al. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England newborn screening program. Clin Chem 2001;47: 1945-55
34. Johnson AW, Mills KM, Clayton PT. The use of automated electrospray ionization tandem MS for the diagnosis of inborn errors of metabolism from dried blood spots. BIochem Soc Trans 1996;24:932-8
35. Rashed MS, Bucknall MP, Little D, et al. Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. Clin Chem 1997;43:1129-41
36. Beaudette P, Bateman KP. Discovery stage pharmacokinetics using dried blood spots. J Chromatogr B Analyt Technol Biomed Life Sci 2004;809:153-8
37. Picotti P, Aebersold R. Selected reaction monitoring-based proteomics: workflows, potential, pitfalls and future directions. Nat Methods 2012;9:555-66
38. Lange V, Picotti P, Domon B, et al. Selected reaction monitoring for quantitative proteomics: a tutorial. Mol Syst Biol 2008;4:1-14
39. Gallien S, Duriez E, Domon B. Selected reaction monitoring applied to proteomics. J Mass Spectrom 2011;46:298-312
40. Patrinos GP, Giardine B, Riemer C, et al. A database of human hemoglobin variants and thalassemias. Available from: http://globin.bx.psu.edu/hbvar/menu.html [Last accessed 3 July 2014]
41. Campbell M, Henthorn SJ, Davies CS. Evaluation of cation-exchange HPLC compared with isoelectric focusing for Neonatal hemoglobinopathy screening. Clin Chem 1999;45:969-75
42. Riou J, Godart C, Hurtrel D, et al. Cation-exchange HPLC evaluated for presumptive identification of hemoglobin variants. Clin Chem 1997;43:34-9
43. Daniel YA, Turner C, Haynes RM, et al. Rapid and specific detection of clinically significant haemoglobinopathies using electrospray mass spectrometry-mass spectrometry. Br J Haematol 2005;130: 635-43
44. Daniel YA, Turner C, Haynes RM, et al. Quantification of hemoglobin A2 by tandem mass spectrometry. Clin Chem 2007;53:1448-54
45. Boemer F, Ketelslegers O, Minon JM, et al. Newborn screening for sickle cell disease using tandem mass spectrometry. Clin Chem 2008;54:2036-41
46. Boemer F, Cornet Y, Libioulle C, et al. 3-years experience review of neonatal screening for hemoglobin disorders using tandem mass spectrometry. Clin Chim Acta 2011;412:1476-9
47. Moat SJ, Rees D, King L, et al. Newborn blood spot screening for sickle cell disease by using tandem mass spectrometry: implementation of a protocol to identify only the disease states of sickle cell disease. Clin Chem 2014;60:373-80
48. Cronin EK, Normand C, Henthorn JS, et al. Costing model for neonatal screening and diagnosis of haemoglobinopathies. Arch Dis Child Fetal Neonatal Ed 1998;79: F161-7
49. Haynes CA, Guerra SL, Fontana JC, et al. HPLC-ESI-MS/MS analysis of hemoglobin peptides in tryptic digests of dried-blood spot extracts detects HbS, HbC, HbD, HbE, HbO-Arab and HbG-philadelphia mutations. Clin Chim Acta 2013;424: 191-200
50. Edwards RL, Creese AJ, Baumert M, et al. Hemoglobin variant analysis via direct surface sampling of dried blood spots coupled with high-resolution mass spectrometry. Anal Chem 2011;83:2265-70
51. Van Berkel GJ, Pasili SP, Ovchinnikova O. Established and emerging atmospheric pressure surface sampling/ionization techniques for mass spectrometry. J Mass Spectrom 2008;43:1161-80
52. Van-Berkel GJ. Thin-layer chromatography and electrospray mass spectrometry coupled using a surface sampling probe. Anal Chem 2002;74:6216-23
53. Kertesz V, Van-Berkel GJ. Fully automated liquid extraction-based surface sampling and ionization using a chip-based robotic nanoelectrospray platform. J Mass Spectrom 2010;45:252-60
54. Edward RL, Griffiths P, Bunch J, et al. Compound heterozygotes and beta-thalassemia: top-down mass spectrometry for detection of hemoglobinopathies. Proteomics 2014;14:1232-8
55. Edwards RL, Griffiths P, Bunch J, et al. Top-down proteomics and direct surface sampling of neonatal dried blood spots: diagnosis of unknown hemoglobin variants. J Am Soc Mass Spectrom 2012;23:1921-30
56. Futerman AH, Van Meer G. The cell biology of lysosomal storage disorders. Nat Rev Mol Cell Biol 2004;5:556-65
57. Gelb MH, Turecek F, Scott RC, et al. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis 2006;29:397-404
58. Zhang KX, Elbin CS, Chuang WL, et al. Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry. Clin Chem 2008;54:1725-8
59. DeWilde A, Sadilkova K, Sadilek M, et al. Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening. Clin Chem 2008;54:1961-8
60. Das SK, Ray K. Wilson's disease: an update. Nat Clin Pract Neurol 2006;2: 482-93
61. Kehler JR, Bowen CL, Boram SL, et al. Application of DBS for quantitative assessment of the peptide exendin-4; comparison of plasma and DBS method by UHPLC-MS/MS. Bioanalysis 2010;2: 1461-8
62. Sleczka BG, D'Arienzo CJ, Tymiak AA, et al. Quantitation of therapeutic proteins following direct trypsin digestion of dried blood spot samples and detection by LC-MS-based bioanalytical methods in drug discovery. Bioanalysis 2012;4:29-40
63. Moller I, Thomas A, Geyer H, et al. Development and validation of a mass spectrometric detection method of peginesatide in dried blood spots for sports drug testing. Anal Bioanal Chem 2012;403: 2715-24
64. Cox H D, Rampton J, Eichner D. Quantification of insulin-like growth factor-1 in dried blood spots for detection of growth hormone abuse in sport. Anal Bioanal Chem 2013;405:1949-58
65. Chambers AG, Percy A J, Yang J, et al. Multiplexed quantitation of endogenous proteins in dried blood spots by multiple reaction monitoring mass spectrometry. Mol Cell Proteomics 2013;12:781-91
66. Anderson NL, Anderson NG, Haines LR, et al. Mass spectrometric quantitation of peptides and proteins using stable isotope standards and capture by anti-peptide antibodies (SISCAPA). J Proteome Res 2003;3:235-44
67. Kuhn E, Addona T, Keshishian H, et al. Developing multiplexed assays for Troponin I and Interleukin-33 in plasma by peptide immunoaffinity enrichment and targeted mass spectrometry. Clin Chem 2009;55: 1108-17
68. Anderson L. Six decades searching for meaning in the proteome. J Proteome Res 2014;107:24-30
69. Martin NJ, Bunch J, Cooper HJ. Dried blood spot proteomics: surface extraction of endogenous proteins coupled with automated sample preparation and mass spectrometry analysis. J Am Soc Mass Spectrom 2013;24:1242-9
70. Chambers AG, Percy AJ, Hardie DB, et al. Comparison of proteins in whole blood and dried blood spot samples by LC/MS/MS. J Am Soc Mass Spectrom 2013;24:1338-45
71. Anderson NL, Anderson NG. The human plasma proteome history character and diagnostic prospects. Mol Cell Proteomics 2002;1(11):845-67
72. Fan L, Lee JA. Managing the effect of hematocrit on DBS analysis in a regulated environment. Bioanalysis 2012;4:345-7
73. Kim JH, Woenker T, Adamec J, et al. Simple, miniaturized blood plasma extraction method. Anal Chem 2013;85: 11501-8
74. Adam BW, Alexander JR, Smith J, et al. Recoveries of phenylalanine from two sets of dried blood spot reference materials: prediction from hematocrit, spot volume, and paper matrix. Clin Chem 2000;46: 126-8
75. Li Y, Henion J, Abbott R, et al. The use of a membrane filtration device to form dried plasma spots for the quantitative determination of guanfacine in whole blood. Rapid Commun Mass Spectrom 2012;26: 1208-12
76. Keevil BG. The analysis of dried blood spot samples using liquid chromatography tandem mass spectrometry. Clin Biochem 2010;44:110-18
77. Kupke IR, Kather B, Zeugner S. On the composition of capillary and venous blood serum. Clin Chim Acta 1980;112:177-85
78. Abu-Rabie P, Denniff P, Spooner N, et al. Method of applying internal standard to dried matrix spot samples for use in quantitative bioanalysis. Anal Chem 2011;83:8779-86
79. Mommers J, Mengerink Y, Ritzena E, et al. Quantitative analysis of morphine in dried blood spots by using morphine-d3 pre-impregnated dried blood spot cards. Anal Chim Acta 2013;774:26-32
80. Liu J, Cooks G R, Ouyang Z. Enabling quantitative analysis in ambient ionization mass spectrometry: internal standard coated capillary samplers. Anal Chem 2013;85: 5632-6
81. Omenn G S, States D J, Adamski M, et al. Overview of the HUPO plasma proteome project: results from the pilot phase with 35 collaborating laboratories and multiple analytical groups, generating a core dataset of 3020 proteins and a publicly-available database. Proteomics 2005;5:3226-45
82. Nanjappa V, Kurian Thomas J, Marimuthu A, et al. Plasma proteome database as a resource for proteomics research: 2014 update. Nucl Acids Res 2014;42:D959-65
83. Anderson N L, Polanski M, Pieper R, et al. The human plasma proteome a non redundant list developed by a mobination of four separate sources. Mol Cell Proteomics 2004;3:311-26
84. Gong Y, Li X, Yang B, et al. Different immunoaffinity fractionation strategies to characterize the human plasma proteome. J Proteome Res 2006;5:1379-87
85. Keshishian H, Addona T, Burgess M, et al. Quantitative, multiplexed assays for low abundance proteins in plasma by targeted mass spectrometry and stable isotope dilution. Mol Cell Proteomics 2007;6: 2212-29
86. Jin WH, Dai J, Li SJ, et al. Human plasma proteome analysis by multidimensional chromatography prefractionation and linear ion trap mass spectrometry identification. J Proteome Res 2004;4:613-19
87. Greenough C, Jenkins RE, Kitteringham NR, et al. A method for the rapid depletion of albumin and immunoglobulin from human plasma. Proteomics 2004;4:3107-11
88. WHO. Haemoglobin concentrations for the diagnosis of anaemia and assessment of severity. WHO; Geneva, Switzerland: 2011. p. 6