New Gene Discovery Brings Hope to Multiple Sclerosis Sufferers
< Mar. 19, 2008 > -- Multiple sclerosis (MS) can be a devastating and unpredictable neurological disease. But, the recent discovery of a second gene linked to multiple sclerosis has been hailed as a major breakthrough - and is making researchers optimistic that they are honing in on useful treatments - and, ultimately, a cure.
Most Significant Genetic Breakthrough in 30 Years
That hope is a message physicians will be sharing during March, which is National Multiple Sclerosis Education and Awareness Month.
There is no one pattern that is typical in the course of multiple sclerosis. Every patient has different symptoms as the disease gnaws away at the nerve endings in the brain, the spinal cord and sometimes, the eyes.
Physicians and researchers are not even sure what causes MS or what makes one person more likely to get it than another.
"I have a patient who is 6 years old," says Dr. Daniel Kantor, director of the Comprehensive Multiple Sclerosis Center at the University of Florida. "I have a patient who is 71 years old. I have patients from all walks of life, all ages."
In what is considered the most significant genetic breakthrough in MS research in 30 years, scientists last year announced they had found a gene that increases the risk of developing the disease by 30 percent.
"This discovery is very significant because it is hopefully the first of many, and after more than 30 years of finding nothing," says Dr. Jennie Q. Lou, professor of public health and internal medicine at Nova Southeastern University in Fort Lauderdale, Florida.
"We will expect to find many more of these genes over the next few years. Either these genes, or genes related to them, may be an excellent target that researchers can use to develop treatments and cures for MS," she adds.
The Mysteries of MS
The symptoms of multiple sclerosis are numerous and diverse, as the disease attacks different parts of the nervous system. One MS patient may be able to walk - with some extra effort - while another is wheelchair-bound. One person may experience terrible fatigue, while another might struggle with blurred or double vision. Other symptoms include slurred speech, tremors, stiffness, and bladder problems, according to the National Multiple Sclerosis Society.
"A lot of the symptoms are invisible symptoms to an outsider," Dr. Kantor says. "Pain, extreme fatigue, memory problems - these are problems you just can't see."
Multiple sclerosis is thought to be an autoimmune disease because it attacks the central nervous system. The nerve fibers of the central nervous system are surrounded and protected by a fatty tissue called myelin. Myelin helps the fibers conduct electrical impulses.
With MS, myelin is lost in multiple areas, leaving scar tissue called sclerosis. Sometimes, the fiber itself is harmed. When myelin or the nerve fiber is destroyed or damaged, the ability of the nerves to conduct electrical impulses to and from the brain is interrupted, producing the various symptoms of MS.
Most people with MS are diagnosed between the ages of 20 and 50 - and twice as many women as men have the disease. Around 400,000 Americans have a diagnosis of MS,and each week about 200 new cases are diagnosed. Worldwide, the number of MS cases may be up to 2.5 million people, according to the National Multiple Sclerosis Society.
The Potential Cause and Future Directions
The exact cause of MS is unknown, but physicians believe it comes from some combination of genetic and environmental factors, Dr. Kantor says. "There's a genetic predisposition and then something happens; they are exposed to something, and it makes the body's defense system attack itself versus attacking a foreign invader," he says.
That is why the discovery of the second gene is so important. Researchers now know they must cast a wider net when searching for answers.
"We've been looking at one gene the whole time, and we thought that was going to be the answer to understanding MS," Dr. Kantor says. "This is just telling us there's another part of the immune system that is important as well. It's made things more complicated, but if it's true, it's true."
The gene discovery is one of a number of advances that are occurring rapidly. Dr. Lou notes that new research has successfully used stem cells to help replace myelin in the brains of mice. "This discovery has shed light on the great potential of using stem cells in MS treatment," she says.
And last year, researchers proved that an experimental DNA vaccine to fight multiple sclerosis is safe and stands a good chance of being effective. The vaccine works by blocking the immune system's attack on the myelin sheaths protecting nerve fibers.
Other advances noted by Dr. Lou include:
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Judy and Her Daily Triumphs with MS
Seventy-year-old Judy Rappaport has been living with multiple sclerosis for 20 years now.
"I do practically what everyone else can," says Rappaport, who lives in Hallandale Beach, Florida. "I just do it a little slower."
She first began experiencing symptoms when she was 52. "All of a sudden I started to feel very tired all the time," Rappaport says. "I was walking in the street and could barely drag one foot at a time."
Rappaport went to her doctor after she woke up one morning numb from her head to her feet. "It was a long journey," she says, recalling the five years it took doctors to diagnose her condition.
"Unfortunately, every doctor thinks differently. At the beginning, my symptoms were not obvious enough."
A doctor in Florida finally landed upon multiple sclerosis as a potential cause of her symptoms. An MRI (magnetic resonance imaging) and spinal tap confirmed her diagnosis.
Rappaport remembers feeling relieved when she learned of her diagnosis. "I had no idea what I had. I was scared to death," she says. "I said, 'I'm not going to die. I'm going to live.' Thank God, it could have been worse."
Rappaport now takes an injectable drug called Copaxone, which has kept her symptoms in remission for the most part.
"The one I take, I take it every day," she says. "It keeps me where I am. I've been taking it for eight years and it's kept me steady."
She remains numb in her hands and slightly unsteady on her feet, but she walks well enough with a cane these days and her speech is fluid.
Rappaport is going on a cruise in March, and takes pride in her appearance. She also helps others as a counselor for MS patients, encouraging them to lead a normal life.
"People with disabilities don't have to be shoved to the wall," she says.
But Rappaport refuses to give in to the disease. "That's the trick, not to live in fear," she says. "We all have good days and we all have bad days, all of us."
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