Understanding Genes and Their Mechanisms of Impact

880 words | 3 page(s)

Isolation of a gene in 1969 was a monumental breakthrough in genetics, since it uncovered the immense, unlimited perspectives of gene research. However, much has changed within nearly half a century since that breath-taking discovery; the human genome project has changed the initial idea of genes fostered by Shapiro and his team in the 1960s. First, the genome project proved that the human genes are not constituted of adjacent DNA segments coding the protein, and reduced the number of distinct genes from more than 100,000 to approximately 20,000 (and the number may reduce further, with more advancement in genome research) (Han & Grippo, 2010). Genome studies have contributed to contemporary understanding of genes and genomes, making them much less perplexing and enigmatic agents affecting every aspect of the human organism’s appearance and functioning (Bateman, 2012). However, recent findings show that there is much less clarity about the nature of human genome than expected: one of the best illustrative examples is current research on the gene of obesity.

As pointed out by Xia and Grant (2013), scholars have long suspected the presence of a genetic component in obesity, and much work has been done to identify genes responsible for excessive weight, irregular metabolism, and over-eating. As a result of genetic research, the FTO gene was discovered, and several clinical studies supported its association with fat mass and obesity. FTO is a gene located on chromosome 16; it represents a nuclear protein from the ‘AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily’ (Ursu, 2013, p. 2). Research findings suggested that FTO has strong links with obesity, body mass index (BMI), and type 2 diabetes. A large-scale 2007 study of a group of British researchers provided conclusive evidence of FTO gene’s relationship to obesity; researchers observed a considerable weight loss among mice whose FTO genes were inhibited in contrast to substantial weight gains of mice in which FTO was over-expressed (Yong, 2014).

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These findings seemed to prove that the FTO gene is the culprit responsible for human obesity except for one inconsistency: the FTO gene’s fragments associated with obesity represented the non-coding fragment that did not participate in protein coding. The obesity-related FTO fragments were simply lost during the stage of RNA formation, so the scholarly community could not establish the ways in which non-coding gene transcripts could affect protein expression and production to cause the development of obesity (Yong, 2014). FTO gene transcripts participating in gene production and expression were also researched, but no link between them and obesity was found, which created perplexing findings and unclear nature of FTO’s mechanism of impact on excessive weight.

Only last year, the enigma of FTO gene’s impact on obesity was clarified by a team of scholars in the University of Chicago headed by Marcelo Nobrega. The scholars deviated from the traditional vision of genome as a linear structure and involved 3D modelling to imitate its complex multi-dimensional structure. Such visualization enabled the researchers to solve the puzzle; they found the obesity-related FTO fragments to be located in physical contact with the IRX3 gene ‘ the gene expressed in the hypothalamus and regulating metabolism and eating behaviour (Owens, 2014). This way, the FTO gene located 500,000 base pairs away from IRX3 turned out to be linked with it, affecting obesity, metabolism, and eating (Yong, 2014).

The present illustration shows that human understanding of genes and their structure is still quite backward, since complex multi-dimensional structures that genes represent conceal a great variety of mysteries regarding how the human organism works. Similarly to the interaction of FTO and IRX3 genes causing obesity, many other combinations of genes often alter each other’s functions and act in a totally different way in a tandem. For instance, a combination of genes causes such disorders as Marden-Walker syndrome, neurofibromatosis type I, haemophilia, etc. (Veerappa et al., 2014). Another example of unusual combinations and their subsequent effects include the impact of the TNF-? factor that may act as an inhibitor of tumours, but in other conditions by binding to other agents ‘ causes cell apoptosis and tumorigenesis. This way, one may conclude that genes are complex in their impact on the organism alone, but as soon as they establish bonds with other genes, the nature of their effect becomes even more unpredictable and puzzling. Hence, no matter how much advancement has already been achieved in genetics research, this field may be characterized as being at the germinal stage of its development, with a plenty of new stunning discoveries to be made in future.

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  • Han, H., & Grippo, P. (2010). Drug discovery in pancreatic cancer: Models and techniques. Phoenix, AZ: Springer Science & Business Media.
  • Owens, B. (2014, March 12). New contender for ‘fat gene’ found. Nature. doi:10.1038/nature.2014.14863. Retrieved from http://www.nature.com/news/new-contender-for-fat-gene-found-1.14863
  • Ursu, R.-I. (2013). Obesity, a gene review. Bulletin of the Transilvania University of Brasov, Series IV: Medical Sciences, 6(55/1), 1-8.
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  • Yong, E. (2014, March 12). Obesity researchers have been looking at the wrong gene. National Geographic. Retrieved from http://phenomena.nationalgeographic.com

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