New fruit fly model to help scientists study human disease Charcot-Marie-Tooth

June 23rd, 2009 - 4:20 pm ICT by ANI  

Washington, June 23 (ANI): Scientists in Belgium have created the first ever fly model that can help them unravel the molecular mechanism behind Charcot-Marie-Tooth (CMT)-a hereditary disorder of the peripheral nervous system-by putting mutant genes from human patients into fruit flies.

The breakthrough is the result of collaboration between VIB researchers working at the University of Antwerp and the Katholieke Universiteit Leuven.

“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 researcher added.

A research article on the study, appearing in the Proceedings of the National Academy of Sciences (PNAS), reveals that CMT patients suffer from progressive motor impairment, muscle wasting and weakness, sensory loss, and foot deformities.

It further states that the disease affects children as well as adults, and that it often starts with minor symptoms, gradually worsening over time. Presently CMT cannot be cured or prevented.

In a previous study, Jordanova and Vincent Timmerman had found that CMT patients in families in Belgium, Bulgaria and the US showed three specific changes in one of the most ubiquitous genes in life: the YARS gene.

YARS is responsible for the production of one of the oldest enzymes in the history of life (tyrosyl-tRNA synthetase), which is vital for the production of proteins. This was an entirely unexpected breakthrough.

Since YARS had been considered a closed chapter in the biology textbooks, no one ever suspected the relationship with specific variants of CMT until the revelation by Jordanova and her colleagues.

These VIB findings open up an entirely new field of research.

The researchers introduced four variants of the YARS gene into fruit flies.

The normal variant, showed no difference in ordinary fruit flies. However, fruit flies with the mutant YARS genes, showed clear symptoms of CMT such as a reduced capacity to move, decreased functioning of the nerve cells and degeneration of the nerve endings. (ANI)

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