Medical Perspectives: Gene Regulation

We know that Gene Regulation has huge significance in human health. Most of the differences between individuals are due to alterations in gene expression, not in gene products. This will include influencing our various individual susceptibilities to disease and predispositions in body and mind. So why is this topic so empty? Simply because we do not yet understand how. We are not very good yet at identifying or measuring the effects of changes in regulatory regions of DNA. We are on more solid ground when a defect in a protein-coding region must be causing changes in gene expression - that is, mutations in genes encoding transcription factors. These are responsible for a wide range of different developmental abnormalities sometimes found during pregnancy. The Hox genes, which contain homeodomain DNA-binding domains are an example.

Gene regulation through epigenetic modifications of DNA and chromatin is starting to be appreciated in diseases as diverse as metabolic diseases, e.g. type II diabetes, and cancer (See MCoB, Ch20, pgs 1110-1111)