Affinity Biosensors For Phenylketonuria Diagnosis: A Review of Bioreceptors and Transducers Strategies

Öz

Phenylketonuria (PKU) is an inborn error of metabolism which arises from the mutations in phenylalanine hydroxylase (PAH) gene. PAH enzymes hydroxylate phenylalanine to tyrosine in the presence of the cofactor tetrahydrobiopterin (BH4), molecular oxygen and iron. Mutations in PAH gene led to lack of one of the essential enzymes, phenylalanine hydroxylase (PAH). Lack of this crucial enzyme brings about the accumulation of L-phenylalanine and their metabolites in the newborns’ blood, urine and other body fluids, causing skin lesions, epilepsy, microcephaly, eczema, and scleroderma and, if untreated, also cause mental retardation. The amount of serum phenylalanine of healthy individual, is expected to be measured in the range of 50-110 μM, while phenylalanine in phenylketonuria patients is in the range of 0.6-3.8 mM in serum and 20-60 mM in urine. Metabolic diseases such as phenylketonuria are rare diseases but these types of illness reduce the quality of life at serious levels. If these diseases can be diagnosed early by the help of detection methods, mortality and morbidity can be prevented. For this reason, early diagnosis of metabolic diseases provides a better quality of life for the patients. Today, phenylketonuria could be determined using microbial inhibition, chromatographic and spectrophotometric methods. In Turkey, phenylketonuria test is performed by colorimetric method in screening centers. However, since these methods are time-consuming and expensive, complex instrumentation, preliminary preparation and special laboratory facilities are needed, the need in this area cannot be fully met. For this reason, there is an urgent need to develop simpler, faster and more economical assay methods and make them readily available at the clinic. For this reason, the development of new techniques and/or devices is a great need to be addressed urgently. In this context, use of affinity biosensors which are known with their sensitivity, selectivity, low cost and rapid response, to the following of phenylketonuria disease will ensure that these disadvantages are overcome. This review aims at presenting the bioreceptors to selectively and sensitively diagnose phenylketonuria by using different transducers in affinity biosensors.

Anahtar Kelimeler

• Phenylketonuria
• affinity biosensor
• phenylalanine
• bioreceptor

Kaynakça

1. 1. Aghaei, F., Seifati, S. M. and Nasirizadeh, N., Development of a DNA Biosensor for the Detection of Phenylketonuria Based on a Screen-Printed Gold Electrode and Hematoxylin, Analytical Methods, vol. 9, no. 6, pp. 966–73, February 2017. DOI: 10.1039/c6ay02853e
2. 2. Arslan, H., Unal, K., Aynaci Koyuncu, E., Yildirim, E. and Arslan, F., Development of a Novel Phenylalanine Biosensor for Diagnosis of Phenylketonuria, IEEE Sensors Journal, vol. 20, no. 20, pp. 12127–33, October 2020. DOI: 10.1109/JSEN.2020.3008613
3. 3. Bao, D., Gao, P., Wang, Y., Zhou, H., Chen, Y., Chen, G., Yang, P. and Zhang, X., Electrostatic Trapping of Double-Stranded DNA Based on Cd(OH)2 Three-Side Nanobelt Architectures, Journal of Physical Chemistry C, vol. 119, no. 4, pp. 1953–59, January 2015. DOI: 10.1021/jp511849r
4. 4. Blau, N., Spronsen, F. J. Van and Levy, H. L., Phenylketonuria, The Lancet, vol. 376, no. 9750, pp. 1417–27, 2010. DOI: 10.1016/S0140-6736(10)60961-0
5. 5. Brauchle, E., Noor, S., Holtorf, E., Garbe, C., Schenke-Layland, K. and Busch, C., Raman Spectroscopy as an Analytical Tool for Melanoma Research, Clinical and Experimental Dermatology, vol. 39, no. 5, pp. 636–45, July 2014. DOI: 10.1111/ced.12357
6. 6. Cosnier, S., Affinity Biosensors Based on Electropolymerized Films, Electroanalysis, vol. 17, no. 19, pp. 1701–15, 2005. DOI: 10.1002/elan.200503308
7. 7. Crujeiras, V., Aldámiz-Echevarría, L., Dalmau, J., Vitoria, I., Andrade, F., Roca, I., Leis, R., Fernandez-Marmiesse, A. and Couce, M. L., Vitamin and Mineral Status in Patients with Hyperphenylalaninemia, Molecular Genetics and Metabolism, vol. 115, no. 4, pp. 145–50, 2015. DOI: 10.1016/j.ymgme.2015.06.010
8. 8. D’Orazio, P., Biosensors in Clinical Chemistry - 2011 Update, Clinica Chimica Acta, September 2011.

9. 9. Ding, X., Yan, Y., Li, S., Zhang, Y., Cheng, W., Cheng, Q. and Ding, S., Surface Plasmon Resonance Biosensor for Highly Sensitive Detection of MicroRNA Based on DNA Super-Sandwich Assemblies and Streptavidin Signal Amplification, Analytica Chimica Acta, vol. 874, pp. 59–65, May 2015. DOI: 10.1016/j.aca.2015.03.021
10. 10. Ellington, A. D. and Szostak, J. W., In Vitro Selection of RNA Molecules That Bind Specific Ligands, Nature, vol. 346, no. 6287, 1990. DOI: 10.1038/346818a0
11. 11. Gok, F., Ekin, S. and Dogan, M., Evaluation of Trace Element and Mineral Status and Related to Levels of Amino Acid in Children with Phenylketonuria, Environmental Toxicology and Pharmacology, vol. 45, pp. 302–8, 2016. DOI: 10.1016/j.etap.2016.06.014
12. 12. Hasanzadeh, M., Zargami, A., Baghban, H. N., Mokhtarzadeh, A., Shadjou, N. and Mahboob, S., Aptamer-Based Assay for Monitoring Genetic Disorder Phenylketonuria (PKU), International Journal of Biological Macromolecules, vol. 116, pp. 735–43, September 2018. DOI: 10.1016/j.ijbiomac.2018.05.028
13. 13. Heller, A., and Feldman, B., Electrochemical Glucose Sensors and Their Applications in Diabetes Management, Chemical Reviews, July 2008.
14. 14. Ispas, C. R., Crivat, G. and Andreescu, S., Review: Recent Developments in Enzyme-Based Biosensors for Biomedical Analysis, Analytical Letters, vol. 45, no. 2–3, pp. 168–86, January 2012. DOI: 10.1080/00032719.2011.633188
15. 15. Jayasena, S. D., Aptamers: An Emerging Class of Molecules That Rival Antibodies in Diagnostics, Clinical Chemistry, vol. 45, no. 9, pp. 1628–50, September 1999. DOI: 10.1093/clinchem/45.9.1628
16. 16. JERVIS and GA, Phenylpyruvic Oligophrenia : Deficiency of Phenylalanine Oxidizing System, Proc Soc Exp Biol Med, vol. 82, pp. 514–15, 1953.
17. 17. Jung, Y. K. and Park, H. G., Colorimetric Detection of Clinical DNA Samples Using an Intercalator-Conjugated Polydiacetylene Sensor, Biosensors and Bioelectronics, vol. 72, pp. 127–32, October 2015. DOI: 10.1016/j.bios.2015.04.09.
18. 18. Kargl, R., Vorraber, V., Ribitsch, V., Köstler, S., Stana-Kleinschek, K. and Mohan, T., Selective Immobilization and Detection of DNA on Biopolymer Supports for the Design of Microarrays, Biosensors and Bioelectronics, vol. 68, pp. 437–41, June 2015. DOI: 10.1016/j.bios.2015.01.038
19. 19. Kurbanoglu, S., Erkmen, C., and Uslu, B., Frontiers in Electrochemical Enzyme Based Biosensors for Food and Drug Analysis, TrAC - Trends in Analytical Chemistry, March 2020.
20. 20. Labuda, J., Oliveira Brett, A. M., Evtugyn, G., Fojta, M., Mascini, M., Ozsoz, M., Palchetti, I., Paleček, E. and Wang, J., Electrochemical Nucleic Acid-Based Biosensors: Concepts, Terms, and Methodology (IUPAC Technical Report), Pure and Applied Chemistry, vol. 82, no. 5, pp. 1161–87, April 2010. DOI: 10.1351/PAC-REP-09-08-16
21. 21. Liu, Y., Matharu, Z., Howland, M. C., Revzin, A., and Simonian, A. L., Affinity and Enzyme-Based Biosensors: Recent Advances and Emerging Applications in Cell Analysis and Point-of-Care Testing, Analytical and Bioanalytical Chemistry, September 2012.
22. 22. Marrazza, G., Chianella, I., and Mascini, M., Disposable DNA Electrochemical Biosensors for Environmental Monitoring, Analytica Chimica Acta, Elsevier, vol. 387, no. 3, pp. 297–307, 1999.
23. 23. Merkoçi, A., Nanoparticles Based Electroanalysis in Diagnostics Applications, Electroanalysis, vol. 25, no. 1, pp. 15–27, 2013. DOI: 10.1002/elan.201200476
24. 24. Moreira, C. M., Pereira, S. V., Raba, J., Bertolino, F. A. and Messina, G. A., Paper-Based Enzymatic Platform Coupled to Screen Printed Graphene-Modified Electrode for the Fast Neonatal Screening of Phenylketonuria, Clinica Chimica Acta, vol. 486, pp. 59–65, November 2018. DOI: 10.1016/j.cca.2018.07.016
25. 25. Naghib, S. M., Rabiee, M., and Omidinia, E., Electrochemical Biosensor for L-Phenylalanine Based on a Gold Electrode Modified with Graphene Oxide Nanosheets and Chitosan, Int. J. Electrochem. Sci, 2014.
26. 26. Naghib, S. M., Rabiee, M., Omidinia, E. and Khoshkenar, P., Investigation of a Biosensor Based on Phenylalanine Dehydrogenase Immobilized on a Polymer-Blend Film for Phenylketonuria Diagnosis, Electroanalysis, vol. 24, no. 2, pp. 407–17, February 2012. DOI: 10.1002/elan.201100391
27. 27. Nucleic Acid Biosensors for Environmental Pollution Monitoring - Google Kitaplar, n.d. Palchetti, I., Affinity Biosensors for Tumor-Marker Analysis, Bioanalysis, December 2014.
28. 28. Rasooly, A. and Herold, K. E., Biosensors for the Analysis of Food- and Waterborne Pathogens and Their Toxins, Journal of AOAC International, vol. 89, no. 3, pp. 873–83, 2006. DOI: 10.1093/jaoac/89.3.873
29. 29. Song, S., Wang, L., Li, J., Fan, C. and Zhao, J., Aptamer-Based Biosensors, TrAC - Trends in Analytical Chemistry, vol. 27, no. 2, pp. 108–17, February 2008. DOI: 10.1016/j.trac.2007.12.004
30. 30. Soper, S. A., Brown, K., Ellington, A., Frazier, B., Garcia-Manero, G., Gau, V., Gutman, S. I., et al., Point-of-Care Biosensor Systems for Cancer Diagnostics/Prognostics, Biosensors and Bioelectronics, Elsevier, vol. 21, no. 10, pp. 1932–42, 2006.
31. 31. Sun, Y., Lu, X., Su, F., Wang, L., Liu, C., Duan, X. and Li, Z., Real-Time Fluorescence Ligase Chain Reaction for Sensitive Detection of Single Nucleotide Polymorphism Based on Fluorescence Resonance Energy Transfer, Biosensors and Bioelectronics, vol. 74, pp. 705–10, December 2015. DOI: 10.1016/j.bios.2015.07.02.
32. 32. Tothill, I. E., Biosensors for Cancer Markers Diagnosis, Seminars in Cell and Developmental Biology, 2009.
33. 33. Tuerk, C. and Gold, L., Systematic Evolution of Ligands by Exponential Enrichment: RNA Ligands to Bacteriophage T4 DNA Polymerase, Science, vol. 249, no. 4968, pp. 505–10, August 1990. DOI: 10.1126/science.2200121
34. 34. Villalonga, R., Tachibana, S., Cao, R., Matos, M. and Asano, Y., Glycosidation of Phenylalanine Dehydrogenase with O-Carboxymethyl-Poly-β-Cyclodextrin, Enzyme and Microbial Technology, vol. 40, no. 3, pp. 471–75, February 2007. DOI: 10.1016/j.enzmictec.2006.07.023
35. 35. Wang, J., Electrochemical Biosensors: Towards Point-of-Care Cancer Diagnostics, Biosensors and Bioelectronics, vol. 21, no. 10, pp. 1887–92, 2006. DOI: 10.1016/j.bios.2005.10.027
36. 36. Weiss, D. J., Dorris, M., Loh, A. and Peterson, L., Dehydrogenase Based Reagentless Biosensor for Monitoring Phenylketonuria, Biosensors and Bioelectronics, vol. 22, no. 11, pp. 2436–41, May 2007. DOI: 10.1016/j.bios.2006.09.001