Fruit fly steps in to fight CMT

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Fruit fly steps in to fight human disease

http://www.physorg.com/news164915181.html

June 22nd, 2009 Belgian 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, Callaerts and

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).

Charcot-Marie-Tooth is a hereditary disorder of the peripheral nervous system

that affects 1 in 2,500 people worldwide. Patients suffer from progressive motor

impairment, muscle wasting and weakness, sensory loss, and foot deformities.

Affecting children and adults, the disease often starts with minor symptoms,

gradually worsening over time. Presently CMT cannot be cured or prevented.

New chapter for an old gene

In previous research Albena Jordanova and Timmerman (VIB, University of

Antwerp) discovered 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. YARS had

been considered a closed chapter in the biology textbooks. No one had 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.

Fruit flies with CMT symptoms

The VIB researchers at the University of Antwerp, in collaboration with

Callaerts (VIB, K.U.Leuven) 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.

Source: VIB (the Flanders Institute for Biotechnology)