This web page was created as an assignment for Genetics 677, an undergraduate course at UW-Madison.
Discussion
After researching this topic from many bioinformatic angles, there are some sticking points. First, LMNA is vital to the cellular cycle and the structural integrity of the nucleus. For these reasons it is expected to be highly conserved gene in all animals. This was found to be true when comparing homolog sequences of this gene and its protein products. Also the same domains, and the number of these domains, is constant through all homologs indicating that this gene can be studied through a variety of model organisms. This is seen in the RNAi experiments done in C. elegans, which displayed similar cell deficiencies as seen in higher order animals. Second, this very extreme disease has brought a lot of attention to the role of intermediate filaments in the cell, hopefully leading to more clinical breakthroughs regarding other diseases. Also, since the disease is highlighted by accelerated aging, studies investigating the main players in progeria can offer insight into the human aging process, and how it could be controlled in the future. Lastly, though the clinical trials may not offer a cure to HGPS in may result in a better understanding of the disease, as well as offer new treatment routes for AIDS and possibly cancer. This illustrates a common theme in science, often when scientists set out to find the answers to one question they end up discovering the answer to another, one that could be more applicable or touch a greater number of people. It shows that even if it seems funding is going towards a problem with no applicability, often knowledge arises that can be used to apply to a widespread problem.
Coming into this project I knew very little about the the high throughput world of genomics, as most of my training had been in manual experiments of a small number of genes. Reading into the discovery of the cause of HGPS, it showed the effectiveness of genomic analysis in identifying diseases, and its applicability to clinical diagnostics. Through these hands-on experiences, I have greatly increased my understanding of genomics and proteomics, their accompanying tools, and how greatly useful they are in a vast number of studies. Simply put, this is the future of genetics and it is impressive how quickly this field is evolving.
Peter St. Andre [email protected] Last updated:2/3/09
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