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Ordering a late night pizza seems to be a longtime college staple. Making a trip to get ice cream is a favorite treat for kids of all ages. But for individuals with galactosemia, these tasty treats are something enjoyed from the outside looking in.
For a galactosemia patient, there is to be no consumption of milk products. Unlike lactose intolerance, there is not a pill to take allowing dairy consumption. The limitations are not just milk products, but anything containing galactose, a chemical in the body normally converted to glucose.
Scientists have known for years about galactosemia. It is well known that the disease is a genetic disorder, it is not sex linked, and results in a breakdown of the pathway that converts galactose to glucose. The understanding runs out there, however.
It has been shown that left untreated, galactosemia can lead to a variety of long-term defects. Many females afflicted require supplemental hormones in order to undergo puberty. The disease is often fatal. Other times it just reduces the person’s quality of life. All of this happens despite a strict diet because there is not a cure.
Judith Fridovich-Keil, Ph.D. has been researching galactosemia for the last ten years at Emory University. Her initial course of research focused on the proteins involved in galactose conversion to glucose. It is this area that most galactosemia focuses.
However, Fridovich-Keil altered the style question being asked by introducing the galactose toxicity project. Formerly, the focus of the lab was to study a genetic mutation and see how that affected the function of the protein. The new project looks at how the mutation affects the whole cell. The broader look hopes to see how the body will react to the excess galactose.
This new project getting underway in her lab is dubbed the “galactose toxicity project,” or “gal tox” to the members of the lab. This branch of research investigates what is occurring at a biochemical level when galactose builds up in the body. Since that accumulation can be toxic, finding ways to reduce that toxicity would benefit patients. Although any sort of treatment for patients is not in hand, researchers do not feel that it is out of reach.
The primary galactose toxicity researcher in the lab considers the goal of the project, “to better understand what is occurring under these conditions.” She also considers the research being done as a means of being “better prepared to come up with a better treatment,” which is one ultimate goal of the lab.
For now, a small section of Fridovich-Keil’s lab focuses on galactose toxicity. There are many hurdles to clear and these are just the beginning stages of the project. One of the things making this project unique is that, “nobody is looking at it.” The researcher added that she wonders, “Why is impairment of this protein causing the damage it’s causing?”
Galactosemia is a recessive genetic disease, meaning that you have to inherit it from each parent. It occurs at a frequency of 1:30,000 to 1:60,000 in the general population, and affected individuals have few options. It seems that for every answer scientists come up with, multiple questions arise.
Unfortunately these answers are still a long ways off and the future is uncertain. Nobody in the lab can foresee what obstacles will cause a minor stumble or what may stop them in their tracks. But the undiscovered territory and desire to learn what is not known drives the entire lab to put in countless hours each week and year. The general sentiment: answers will be found; it is just a matter of when.
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