Fruit fly steps in to fight human disease

23-Jun-2009 - Belgium

VIB scientists have successfully introduced genes coding for a variant of the Charcot-Marie-Tooth (CMT) disease, into fruit flies. CMT is one of the most common hereditary disorders of the peripheral nervous system. VIB research - directed by Albena Jordanova, Patrick Callaerts and Vincent Timmerman - shows that the flies recapitulate several symptoms of the human disease.

"By putting mutant genes from human patients into fruit flies, we've created the first ever fly model for this kind of neuromuscular disease," says Albena Jordanova. "Now we have the opportunity to unravel the molecular mechanism behind Charcot-Marie-Tooth, as well as to start looking for substances with therapeutic value.”

The breakthrough is the result of collaboration between VIB researchers working at the University of Antwerp and the Katholieke Universiteit Leuven, and appears in the Proceedings of the National Academy of Sciences (PNAS).

Original publication: Erik Storkebaum et al., "Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy"; PNAS 2009.

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