Development of a Point-of-Care system for early diagnostics of genetic diseases

• Autorzy: Kwapiszewski R. , Chudy M. , Dybko A. , Brzózka Z.
• Języki publikacji: EN

Abstrakty

EN

Lysosomal storage disorders (LSDs) represent a group of more than 45 genetically inherited diseases caused by the absence or deficiency of one or more specific lysosomal enzymes. Nowadays, there is a lack of reports on fast, reliable methods for the diagnostics of LSDs. Currently applied diagnostic approaches generate many false-negative and false-positive results, which results in classification of patients to inappropriate therapeutic groups. Moreover, these methods are time-consuming (even 20 hours), and are carried out only in a few laboratories in the world. The goal of this work was to develop a method and a tool, a Point-of-Care system, for diagnostics of LSDs. The polymeric microdevice consists of a cell lysis module, a mixing microchannel and an optical detection module. The system enables to determine the activity of α-galactosidase (deficient in Fabry disease), and to reduce the time of analysis to 10 min. Due to its easy fabrication steps and low price, it seems to be a prospective tool for a point-of-care approach.

Słowa kluczowe

EN

lysosomal storage disorders; Fabry disease; Gaucher disease; early diagnostics; intracellular enzyme activity; Point-of-Care system; lab-on-a-chip system

• Wydawca: Foundation for Young Scientists
• Czasopismo: Challenges of Modern Technology
• Rocznik: 2012
• Tom: Vol. 3, no. 2
• Strony: 6--8
• Opis fizyczny: Bibliogr. 11 poz., tab., rys.

Twórcy

autor

Kwapiszewski R.

• Department of Microbioanalytics, Institute of Biotechnology, Warsaw University of Technology, Noakowskiego 3, 00-664 Warsaw, Poland

autor

Chudy M.

autor

Dybko A.

autor

Brzózka Z.

Bibliografia

• [1] Pastores, G.M. Lysosomal Storage Disorders: Principles and Practise. World Scientific Publishing Company, 2009.
• [2] Ballabio, A., and V. Gieselman. “Lysosomal disorders: From storage to cellular damage.” Biochimica et Biophysica Acta 1793 (2009): 684–696.
• [3] Meikle, P.J., et al. “New born screening for lysosomal storage disorders.” Molecular Genetics and Metabolism 88 (2006): 307–314.
• [4] Motabar, O., et al. “Fabry Disease—Current Treatment and New Drug Development.” Current Chemical Genomics 4 (2010): 50–56.
• [5] de Fost, M., J.M.F.G. Aerts, and C.E.M. Hollak. “Gaucher disease: from fundamental research to effective therapeutic interventions.” Netherlands Journal of Medicine 61 (2003): 3–8.
• [6] Kwapiszewski, R., et al. “A microfluidic device with fluorimetric detection for intracellular components analysis.” Biomedical Microdevices 13 (2011): 431–440.
• [7] Schiff mann, R. “Fabry disease.” Pharmacology & Therapeutics 122 (2009): 65–77.
• [8] Martins, A.M., et al. “Guidelines to diagnosis and monitoring of Fabry disease and review of treatment experiences.” Journal of Pediatrics 155 (4 Suppl), 2009:S19–S31.
• [9] Chamoles, N.A., M. Blanco, and D. Gaggioli. “Fabry disease: enzymatic diagnosis in dried blood spots on filter paper.” Clinica Chimica Acta 308 (2011): 195–196.
• [10] Kwapiszewski, R., et al. “Substrate inhibition of lysosomal hydrolases: α-galactosidase A and β-glucocerebrosidase.” Clinical Biochemistry 44 (2011): 941–943.
• [11] Desnick, R.J., et al. “Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.” Annals of Internal Medicine 138 (2003): 338–346.