Advances in Genetic Diseases Using the Drosophilia

Drosophila Melanogaster has been used as great genetics research models because they allow us to have a better understanding of genetic diseases that little knowledge may be known about.  Through Drosophila research, we have found out how certain genetic diseases affect humans and ways to stop the disease all together or delay their current progression.  There are many human gentic diseases/disorders. In a Medical News Today article published on March 13, 2012, using the Drosophila Melanogaster as a model, researchers have made advancements in the genetic diseases A-T, Rett syndrome, and kidney stones.

A-T is a rare neurodevelopmental disorder that causes cell death in the brain, poor coordination, spidery blood vessels, susceptibility to leukemia and lymphomas, and results in a short life expectancy mostly. Andrew Petersen is a graduate student at University of Wisconsin-Madison who discussed his experiment at a genetics Conference.  Since A-T is lethal in the Drosophila, Peterson created a mutant A-T strand in the flies that allowed the flies to develop symptoms when the environmental temperature was above a certain level.  When the symptoms of A-T began to show,  the flies lost their ability to climb up the vials and eventually ended up dying.  Based on this experiment, Peterson said “We are one step closer to knowing how these diseases occur and possibly we can treat them.”

Another research experiment by Sarah Certel, Ph.D., at the University of Montana-Missoula is also in the works. Dr. Certel is studying the human gene MeCP2 that controls gene activity or expression that has been altered for the experiment in order to put the gene in the flies. Rett syndrome occurs when too little or too much of the protein is produced.  It is a sex-linked disease whose symptoms include seizures, cognitive impairment, and loss of mobility. The altered levels of the MeCP2 protein caused disturbances in the flies' sleep and aggression. For flies, sleep is determined by the lack of activity during day and night. With this information, researchers are trying to establish a connection between cellular changes and behaviors.

Last but not least, Julian Dow, Ph.D., at the University of Glasgow, United Kingdom is studying kidney stones in the flies. Rosy, a mutant fly, discovered a century ago, is linked to the human condition kidney stones. In Dr. Dow’s experiment, he showed the formation of kidney stones in a time –lapsed video inside the Malpighian tubule of a fly. Before this, kidney stones have never been seen forming inside the kidneys.  Along with his research team and Dr. Michael Romero, Dr. Dow is currently researching chemical compounds that will stop the kidney stones from forming. So far, they have found a way to block the gene that transports a compound called oxalate, causing kidney stone formation to be slower.

It is great to see how far research in genetic diseases has come over the many years. Using the Drosophila Melanogaster as a research model has proven to be extremely beneficial in identifying the mechanics of genetic diseases, and they provide results that scientists and researchers will be able to see relatively quickly. Since the research for all three of the experiments are ongoing there isn't a lot of details; however, it is nice to see that there have been more advancements with these diseases. This makes us one step closer to finding a cure or slowing down the progression of them.