Abstract
The main focus in genomic research is starting to shift from structural genomics to functional genomics and proteomics, which deal with the function of genes and their products. Each cell expresses different sets of genes at different levels as the result of different situations such as development, environmental influences, and disease. Each physiological and pathological situation can thus be characterized by a specific set of gene transcripts (transcriptome) and protein products (proteome). To identify the transcriptomes in Menkes disease, we have employed differential display (DD) of mRNA, a technique which displays mRNA species expressed by a cell population and that is used to detect differences in gene expression between different cell types or under altered conditions (1). The primary defect in the Menkes disease is in the cellular export protein ATP7A, and several copper enzymes are affected secondarily (2). Alhough we can predict the role of some of the copper enzymes in the development of the multisystemic Menkes disease, it is likely that several other enzymes/proteins also contribute to disease progression.
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