ScienceDaily (June 25, 2009) — A team of scientists from The Scripps Research Institute, Katholeike Universiteit Leuven, and the University of Antwerp, Belgium, among other institutions, has created a genetically modified fruit fly that mimics key features of Charcot-Marie-Tooth disease, a common neurodegenerative disorder that strikes about one out of every 2,500 people in the United States. After the human genome was solved a few years ago, studies revealed that some people with Charcot-Marie-Tooth have mutations in their genes that make a critical human protein called tyrosyl-tRNA synthetase. When mutations in tyrosyl-tRNA synthetase were linked to Charcot-Marie-Tooth disease a few years ago, scientists debated whether problems arose because the mutations interfered with tRNA synthetase’s normal function, helping to express genes into proteins, or whether they arose because the mutations interfered with some other unknown function. He reckoned that, if one could first show that a CMT-causing mutant synthetase was active for protein synthesis, then recreating the same disease in another organism (by putting the same mutations in the other organism’s analogous gene) would demonstrate that a novel function was at play. After showing that the disease was not caused by a defect in the synthetase’s activity for protein synthesis, the researchers created the same mutations to the equivalent protein in the fruit fly Drosophila melanogaster, which caused the insect to develop a condition with several of the hallmarks of the human disease. This work was supported by the University of Antwerp, Katholieke Universiteit Leuven, Research Foundation Flanders, the Belgian Federal Science Policy Office, Medical Foundation Queen Elisabeth, the Association Belge contre les Maladies Neuromusculaires, the National Institute of Child Health and Human Development, the National Institutes of Health, the National Foundation for Cancer Research, and the Fund for Scientific Research. read more
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