Environmental Engineering Reference
In-Depth Information
Chapter 8
Nanofluidics-Based Mass Spectrometry.
Applications for Biomarker Discovery
in Lysosomal Storage Diseases
Mirela Sarbu and Alina D. Zamfir
Abstract Substantial efforts are currently invested in development of micro- and
nanofluidics-based systems as front end technology for electrospray ionization
(ESI) mass spectrometry (MS). Since its first introduction in biological MS chip-
based ESI demonstrated a high potential to discover novel biopolymer species due
to the efficient ionization properties, preferential formation of multiply charged
ions and the elevated reproducibility and sensitivity. In combination with high-
resolution mass spectrometers or instruments able to perform multistage fragmen-
tation, chip-electrospray confirmed its unique ability to offer structural elucidation
of minor species in complex mixtures, which often represent valuable biomarkers
of severe diseases. This aspect is of particular importance for the applicability of
chip MS in clinical investigation where only minute amounts of biological material
are available. In view of these major advantages of nanofluidics in conjunction with
modern MS, this chapter reviews the strategies, which allowed a successful appli-
cation of chip technology for early diagnostic of lysosomal storage diseases. The
first part is dedicated to the principles of ESI MS and to advanced nanochip systems
for ESI MS. The second part highlights important achievements of nanochip ESI
MS in biomarker discovery and diagnostic of LSDs such as Fabry and Schindler
diseases. Finally, this chapter emphasizes that advanced chip ESI MS has real
perspectives to become a routine method for early diagnosis and therapy of severe
pathologies such as LSDs.
