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Researchers Find Genetic Link to MS

Posted on: Monday, 30 July 2007, 06:15 CDT

Three studies published Sunday pinpoint genes that increase the risk of developing multiple sclerosis.

The advances by researchers around the world, including a team at Duke University, are the first major genetic discoveries in more than 30 years that shed light on the neurological disease. The findings appeared Sunday in the New England Journal of Medicine and another journal, Nature Genetics.

It doesn't mean that people like Michelle Witherspoon, who along with her sister and aunt have multiple sclerosis, will be picking up new medications at the pharmacy next month or even next year.

But Dr. John Richert, executive vice president of research and clinical programs for the National Multiple Sclerosis Society, say the discoveries could lead to new drugs in the five to 10 years.

Witherspoon of North Raleigh, who works for Cisco Systems, said she's happy with that.

"That's one step closer," she said.

Multiple sclerosis attacks the protective coating around the brain and central nervous system, causing a variety of problems, including paralysis and blindness.

Witherspoon was 33 when she first noticed her symptoms.

She lost most of her sight and had a hard time walking and talking. Her sister was diagnosed with the disease years before.

Witherspoon has regained her sight, speech and ability to walk, though symptoms can recur.

"I'm really blessed," said Witherspoon, who runs a support group for African-Americans with the disease and is active in a group for working women. "My impacts are invisible. It's a lot of muscle pain sometimes. I just don't usually talk about it. What can people do?"

Witherspoon takes a shot every other day, which helps slow the effects. She's hopeful a new drug would mean no more needle pricks.

Research efforts

The New York-based MS Society helped pull together an international research consortium in 2003. That group identified two genetic variations that are associated with multiple sclerosis. The findings appeared in the New England Journal of Medicine on Sunday.

Two independent collaborating groups, including Duke researchers, also published papers in another journal, Nature Genetics, on Sunday, confirming one of the gene variations.

Both genes are involved in the policing functions of the immune system.

"It's putting the pieces of the jigsaw together," said Simon Gregory, molecular geneticist at Duke's Center for Human Genetics and first author of the paper that appeared in Nature Genetics. "It's trying to break down what it is that's causing the disease."

Richert of the MS Society said every new gene that is associated with multiple sclerosis becomes a potential new target for drug development.

"We've got some good drugs available, but they're not fully effective," Richert said in an interview. "They're only partially effective. They do a good job. They alter the course of the disease, but we need to do better."

Effects of MS

About 400,000 Americans have multiple sclerosis, a chronic, unpredictable disease of the central nervous system. Most are diagnosed between ages 20 and 50.

The disease attacks people in different ways, but effects include blurred vision, loss of balance, poor coordination, numbness, extreme fatigue and problems with memory and concentration.

The problems can be permanent or temporary. Most people with MS do not become severely disabled.

Researchers believe that genetic and environmental factors cause the disease.

In North Carolina, about 10,000 people with multiple sclerosis are registered with the state's three National MS Society chapters, said Bob Bryan, president of the Eastern North Carolina chapter, though there are likely more people in the state with the disease.

The latest research was paid for, in part, by MS walks and bike ride fundraisers held around the country.

Billie Jo Leonka was diagnosed with the disease in May 2005. Leonka, who lives in Holly Springs, woke up one morning, feeling like she had slept wrong on her arm. It never got better, and the numbness and tingling eventually spread to other parts of her body.

She's better now, but other problems come and go. She lost her sense of taste one Thanksgiving but later got it back.

She considers herself lucky. She is still able to work as a client relations associate at a wealth management firm. She has strong support from family.

And she tries to remain positive. She's excited about the latest discoveries.

"It gives people hope that the work people are doing to try to find a cure or the research funds that are being committed, it's helping somehow, some way," said Leonka, who turns 33 this week. "Every time they come through a breakthrough, it's one step closer to finding a cure."

Staff writer Sarah Lindenfeld Hall can be reached at 829-8983 or sarah.lindenfeld@newsobserver.com

Source: The News & Observer

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