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**2** 

*United Kingdom* 

**Insights Arising from Gene Expression Profiling** 

*Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield,* 

Gene expression profiling has been used extensively in multiple fields of research to compare disease and control samples, to investigate mechanisms of disease, to identify subtypes within a heterogeneous clinical phenotype and to establish responses to a specific treatment. In addition, it can also be used to determine the function of a gene, to monitor

This chapter will initially explain the principles of gene expression profiling, before discussing the sources of samples, along with their advantages and limitations, and will then summarise the research to date regarding the application of gene expression profiling

The primary application of gene expression profiling is to use a glass slide containing oligonucleotides or cDNA sequences, termed a microarray, to quantify the amount of individual RNA transcripts that are present in a particular cell or tissue. RNA is extracted, fluorescently labelled and then hybridized to the microarray. A linear amplification step can also be performed prior to labelling to ensure sufficient RNA is generated from low yields of RNA extracted from small sample sizes. The quantity of labelled RNA binding to each oligonucleotide or cDNA sequence on the microarray determines the intensity of fluorescence at that location and thus allows quantification of the RNA transcripts in the

Comparison of the expression of transcripts between sample groups allows identification of transcripts which are differentially expressed between the groups. The large number of genes simultaneously interrogated by a microarray means that the resulting data are amenable to study the expression of inter-related clusters of genes such as those involved in known functional categories or specific pathways. Changes in expression level of a particular gene do not take into account regulation at the level of translation. However, the functional impact of a differentially expressed gene can be subsequently established by

changes over time, or for discovering cell specific expression or responses.

**1. Introduction** 

to amyotrophic lateral sclerosis (ALS).

initial sample (Stoughton 2005).

**2. What is gene expression profiling?** 

assaying the encoded protein expression or function.

**in Amyotrophic Lateral Sclerosis** 

Emily F. Goodall, Pamela J. Shaw and Janine Kirby

Johnathan Cooper-Knock, Joanna J. Bury, Laura Ferraiuolo,

