This Labor Day weekend, UC Irvine researcher Luis Villarreal will be keeping a close eye on the tote board at the annual muscular dystrophy telethon. His three-year, $342,000 research grant is contingent on the telethon's success.
"I get the feeling that people are kind of tired of hearing about this telethon," said Villarreal, one of a handful of researchers worldwide working on a genetic cure for the disease that affects more than 1 million young Americans. "The reality is that we are going to make some real progress in the attempts to deal with this disease soon. They shouldn't give up on us."
Villarreal, 45, a professor of molecular biology and biochemistry, is one of three UCI researchers whose work is funded by the Muscular Dystrophy Assn. Biological chemistry professor John Wasmuth and assistant researcher John McPherson are trying to locate the genes for two different types of the disease.
Villarreal is developing a procedure to replace the defective gene that causes the most common form of the disease, Duchenne muscular dystrophy. The disease is typically diagnosed in children by age 5 and often proves fatal by the early 20s, due to respiratory failure.
"This is the most severe and cruelest form of the disease," said Dr. Leon Charash, a New York child neurologist and chairman of the Muscular Dystrophy Assn.'s Medical Advisory Committee.
Eight years ago, Muscular Dystrophy Assn. researchers discovered that a defective dystrophin gene was responsible for Duchenne muscular dystrophy. Villarreal's quest is to send a genetically engineered, fully functioning dystrophin gene into a patient's body where it would correct the deficiencies of the defective gene.
Villarreal is trying to devise a way to package a healthy dystrophin gene inside a common cold virus, called an adenovirus. The virus is considered the delivery system necessary for transmission of the dystrophin gene to the body's muscle cells. The challenge for researchers over the years has been to fit the large dystrophin gene into the cold virus, which has so far proved too small for task.
"If the scientists at UCI can make this virus bigger, it will not only clearly benefit people with muscular dystrophy, but it also may benefit people with a whole host of other genetic illnesses," Charash said.
Villarreal has designed a theoretical model for stripping away some of the contents of the cold virus in order to make room for the dystrophin gene. If his research proves successful, clinical tests on patients could begin within several years.
"The implications of all this are quite profound," Villarreal said. "If we can design a delivery vehicle, that vehicle would be applicable to most major diseases that we know of."
French researchers are trying the "shoe-horn" approach, according to Villarreal, attempting to fit a reduced version of the dystrophin gene into the cold virus. Muscular Dystrophy Assn. officials say such an attempt may at least arrest the development of the disease.
But Villarreal is confident that the entire dystrophin gene can be sent into the body, which would theoretically amount to a cure for the disease.
"It's not something that we've been able to solve yet," Villarreal said. "We are having to invent a whole new technology to cure this disease."