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Flies offer insight into human metabolic disease
Date:5/31/2010

Galactosemia is a metabolic disease resulting from an inherited defect that prevents the proper metabolism of galactose, a sugar commonly found in dairy products, like milk. Exposure of affected people to galactose, can damage most of their organ systems and can be fatal. The ability to study the disease is limited by a lack of animal models. New information suggests that similarities between humans and flies may provide scientists with useful clues.

The inability to breakdown simple sugars in common foods, such as milk, can lead to the accumulation of sugars in the blood, which become toxic and damaging to a variety of organ systems. People with galactosemia, either classic galactosemia or epimerase deficiency galactosemia, have genetic mutations that decrease their levels of the key enzymes (GALT and GALE) responsible for the metabolism of a common form of dietary sugar. Without proper levels of these proteins, these people are unable to process the sugar, galactose, which makes up about half of the calories in milk. Both disorders can have severe effects. Patients suffer from liver and brain damage, cataracts, and kidney failure. The disease can be fatal. There is currently no cure and prognosis and treatment remain ill-defined, partly due to the lack of a good animal model that scientists can use to study the disease and to develop potential treatments.

Discovery of treatments for galactosemia is complicated by the unique sensitivities among different organisms to defects in sugar metabolism. For example, galactose accumulation in mice does not have the same physiological consequences as it does in humans, limiting the applicability of mouse models and slowing advances in this area of research. The fly (Drosophila melanogaster) is a popular laboratory model organism that has been used for many decades and in numerous studies, including those of human metabolic disease.

Scientists at Emory University developed flies tha
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Contact: Kristy Kain
kristy.kain@vanderbilt.edu
615-343-1298
The Company of Biologists
Source:Eurekalert

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