(CMT included) Grave illnesses targeted

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Grave illnesses targeted - Grant underwrites U of W neuromuscular

research

Don Lajoie, Windsor Star Published: Friday, November 14, 2008

Armed with a quarter-million-dollar grant, a University of Windsor

biochemist has recruited a team of student researchers to investigate

the causes of two devastating neuromuscular diseases in hopes of

developing new approaches to treatment.

Otis Vacratsis, associate professor in the university's department of

chemistry and biochemistry, was recently awarded a three-year,

$243,000 grant by the Canadian Institute of Health Research to

determine the molecular details of the two diseases. The pressure

now, he said, is to produce results.

" To keep getting the grants, the expectation is to show major

progress, " said the 34-year-old Windsor native. " We had to have half

the preliminary data done just to get the grant in the first place.

Now we're in the validation stage to prove what we've proposed. Our

goal is to work hard and get results. "

He will collaborate with four student researchers to unlock the

mystery of how molecular interactions result in myotubular myopathy,

a rare genetic disease that affects one in 50,000 males, and Charcot-

Marie Tooth disease, a more common genetic disorder of the nerves.

Myotubular myopathy is apparent at birth or in infancy and includes

symptoms such as low muscle tone, severe weakness, delayed crawling

or walking and accompanying pulmonary and respiratory difficulties

and complications. The disease is often fatal in newborn boys.

Charcot-Marie-Tooth disease, named for the 19th-century scientists

who discovered it, is characterized by a progressive loss of muscle

tissue and touch sensation. It typically begins in the feet and legs

and spreads into the arms and hands in its advanced stages.

The incurable disease is more common than muscular dystrophy and

affects one in 2,500 people, usually striking in late adolescence or

young adulthood. Life expectancy varies and it is potentially fatal.

The only treatment currently available, said Vacratsis, is physical

therapy.

He said his team will attempt to determine which of the body's

naturally occurring proteins becomes overactivated in tissue cells,

whose actions are normally controlled by enzymes called

myotubularins. It is the myotubularin genes that are mutated in

myotubular myopathy and charcot-Marie-Tooth disease, causing symptoms

to manifest.

The team's goal is to isolate the protein molecules associated with

the diseases and determine what makes up those proteins. Vacratsis

added that the work marks only the beginning of the process and

considerably more research would be required before drugs could be

developed.

" Myotubular myopathy can affect breathing and the heart, " said

Vacratsis. " The majority of cases are fatal. We're not even sure how

well diagnosed it is. The testing has to be done right away, perhaps

right in the womb. The disease is not well understood now at even the

basic scientific level. What I will do is pick the protein apart to

determine if it malfunctions and what it normally would do. "

Vacratsis said Charcot-Marie-Tooth disease is marked by a breakdown

in the ability of nerves to transmit signals to the muscles causing

the muscles to slowly atrophy.