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Thursday 27 June 2013

Principles and Applications of Liquid Chromatography-Mass Spectrometry in Clinical Biochemistry

Liquid chromatography-mass spectrometry (LC-MS) is now a routine technique with the development of electrospray ionisation (ESI) providing a simple and robust interface. It can be applied to a wide range of biological molecules and the use of tandem MS and stable isotope internal standards allows highly sensitive and accurate assays to be developed although some method optimisation is required to minimise ion suppression effects. Fast scanning speeds allow a high degree of multiplexing and many compounds can be measured in a single analytical run. With the development of more affordable and reliable instruments, LC-MS is starting to play an important role in several areas of clinical biochemistry and compete with conventional liquid chromatography and other techniques such as immunoassay.

Introduction

Coupling of MS to chromatographic techniques has always been desirable due to the sensitive and highly specific nature of MS compared to other chromatographic detectors. The coupling of gas chromatography to MS (GC-MS) was achieved in the 1950s with commercial instruments available from the 1970s. Relatively cheap and reliable GC-MS systems are now a feature of many clinical biochemistry laboratories and are indispensable in several areas where the analysis of complex mixtures and unambiguous identification is required e.g. screening urine samples for inborn errors of metabolism or drugs. The coupling of MS with LC (LC-MS) was an obvious extension but progress in this area was limited for many years due to the relative incompatibility of existing MS ion sources with a continuous liquid stream. Several interfaces were developed but they were cumbersome to use and unreliable, so uptake by clinical laboratories was very limited. This situation changed with the development of the electrospray ion source by Fenn in the 1980s.
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Destroy user interface control1 Manufacturers rapidly developed instruments equipped with electrospray sources, which had a great impact on protein and peptide biochemistry. Fenn was awarded the Nobel Prize in 2002 with Koichi Tanaka who developed matrix assisted laser desorption ionisation, another extremely useful MS ionisation technique for the analysis of biological molecules.
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By the mid 1990s, the price and performance of LC-MS instruments had improved to the extent that clinical biochemistry laboratories were able to take advantage of the new technology. Biochemical genetics was one of the first areas to do so, and the analysis of neonatal dried blood spot samples for a range of inborn errors of metabolism was a major early application.
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Destroy user interface control3 There are a number of other clinical applications of LC-MS, and the technique is more generally applicable than GC-MS owing to the broader range of biological molecules that can be analysed and the greater use of LC separations in clinical laboratories. The reasons for choosing LC-MS over LC with conventional detectors are essentially the same as with GC-MS, namely high specificity and the ability to handle complex mixtures. Applications of electrospray MS were reviewed in The Clinical Biochemist Reviews in 2003.
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The current review focuses on the principles of LC-MS, practical considerations in setting up LC-MS assays and reviews some of the major applications in clinical biochemistry, concentrating on small molecule applications.

Mass Spectrometry Instrumentation

Mass spectrometers operate by converting the analyte molecules to a charged (ionised) state, with subsequent analysis of the ions and any fragment ions that are produced during the ionisation process, on the basis of their mass to charge ratio (m/z). Several different technologies are available for both ionisation and ion analysis, resulting in many different types of mass spectrometers with different combinations of these two processes. In practice, some configurations are far more versatile than others and the following descriptions focus on the major types of ion sources and mass analysers likely to be used in LC-MS systems within clinical laboratories.

Ion Sources

Electrospray Ionisation Source

Fenn developed ESI into a robust ion source capable of interfacing to LC and demonstrated its application to a number of important classes of biological molecules.
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Destroy user interface control1 ESI works well with moderately polar molecules and is thus well suited to the analysis of many metabolites, xenobiotics and peptides. Liquid samples are pumped through a metal capillary maintained at 3 to 5 kV and nebulised at the tip of the capillary to form a fine spray of charged droplets. The capillary is usually orthogonal to, or off-axis from, the entrance to the mass spectrometer in order to minimise contamination. The droplets are rapidly evaporated by the application of heat and dry nitrogen, and the residual electrical charge on the droplets is transferred to the analytes.
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The ionised analytes are then transferred into the high vacuum of the mass spectrometer via a series of small apertures and focusing voltages. The ion source and subsequent ion optics can be operated to detect positive or negative ions, and switching between these two modes within an analytical run can be performed.
Under normal conditions, ESI is considered a “soft” ionisation source, meaning that relatively little energy is imparted to the analyte, and hence little fragmentation occurs. This is in contrast to other MS ion sources, for example the electron impact source commonly used in GC-MS, which causes extensive fragmentation. It is possible to increase ESI “in-source” fragmentation by increasing voltages within the source to increase collisions with nitrogen molecules. This has been used in LC-MS analyses to identify components with common structural features e.g. the glycans in glycopeptides can be fragmented in-source to give 204 m/z reporter ions. This feature has been used to identify glycopeptides in tryptic digests of proteins in order to characterise the structure of the glycans.
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Destroy user interface control6 Although useful for some analytes, in-source fragmentation is limited for others, and more consistent fragmentation methods, such as collision induced dissociation (see below), are required to induce extensive fragmentation required for structural studies and tandem MS.
Small molecules (≈ <500 Da) with a single functional group capable of carrying electrical charge give predominantly singly charged ions. This can involve the addition of a proton to the analyte (M+H+) when the ion source is operated in positive ion mode or the loss of a proton (M-H) when operated in negative ion mode. Adduction of cations (e.g. M+NH4+, M+Na+, M+K+) and anions (e.g. M+formate, M+acetate) can occur when salts are present. Larger molecules and molecules with several charge-carrying functional groups such as proteins and peptides can exhibit multiple charging, resulting in ions such as M+2H2+, M+3H3+ etc. For proteins, this results in an envelope of ions with different charge states. This property can be used to accurately determine analytes with high molecular weights including proteins up to 100 kDa on mass spectrometers that scan up to only 4000 m/z. Indeed, it is unusual to detect ions with m/z values above this.
While ESI is the most widely used ion source for biological molecules, neutral and low polarity molecules such as lipids may not be efficiently ionised by this method. Two alternative ionisation methods developed for such analytes are described below.

Atmospheric Pressure Chemical Ionisation Source

In atmospheric pressure chemical ionisation (APCI), as with ESI, liquid is pumped through a capillary and nebulised at the tip. A corona discharge takes place near the tip of the capillary, initially ionising gas and solvent molecules present in the ion source. These ions then react with the analyte and ionise it via charge transfer. The technique is useful for small, thermally stable molecules that are not well ionised by ESI.
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