A Burning Desire to Understand Genetic Mutations in Gastroenterology

Dr Peter Ainsworth is an Adjunct Professor in the Department of Biochemistry at the University of Western Ontario, London, Ontario. He is the Director of the Molecular Diagnostics Laboratory of the London Laboratory Services Group, which provides diagnostic genetic testing for Southwestern Ontario. The Human Genome Project has greatly expanded our understanding of the pathogenesis of gastrointestinal diseases. However, the function of many identified genes remains unknown. Molecular genetics is a relatively new scientific field, and thus, many of its fundamental concepts would not have been part of a gastroenterologist’s education. In the present review, an analogy is made between genetic mutations and digital music copying to increase our comprehension of this complex field. In 2003, the Human Genome Project announced their results from a 13-year multinational study which identified approximately 30,000 genes in human DNA. This achievement represents a landmark in modern medicine; however, the field of molecular genetics can be bewildering to the practicing clinician, who may only see an array of alphabet soup and overly complex scientific articles. Simply put, a genome represents all of the nuclear DNA in an organism, including the coding sequences carried in the genes. Genes carry information for making proteins that are involved in cell function. DNA is much like a double-stranded beaded necklace made up of four bases, strung out in pairs (guanine-cytosine [G-C] and adenine-thymine [A-T]) along two interwoven strands of a sugar-phosphate polymer backbone, to make up a double helix comprising the genome of an organism. Fully extended, the DNA in humans is approximately 2 m in length and contains approximately 3.5 × 109 base pairs. The use of digital computer technology to record and copy music is also a complex scientific field. Although the compact disc (CD) was only introduced in 1983 by Royal Philips Electronics Ltd (The Netherlands), the pulse code modulation technology used on CDs was developed in 1937 by British scientist Alec Reeves. The concept for the CD was developed in 1969 by a Dutch physicist, Klaas Compaan, and an American scientist, James T Russell. The first recordable CD, which led to the copying of CDs, was released in 1988. Today, millions of music and video discs have been sold and copied, and the entertainment industry is convinced that this has led to a major decline in their sales and profits. The lessons learned from music copying are used as an analogy in the present article for the study of genetic mutations associated with gastroenterological diseases. Dr Peter Ainsworth is an Adjunct Professor in the Department of Biochemistry at the University of Western Ontario, London, Ontario In this analogy, we will assume that our genetic code is the digital information on the original disc and during the process of copying, genetic mutations have developed. When the disc was introduced, it was assumed that the copying of the digital information would be ‘perfect’; however, it is now well known that many of the copied CDs do not contain exactly the same information as the original. This may be related to burning speed, compression of digital data, copy protection methods, quality of the copier and disc, as well as the algorithm for the data transfer.

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