Researchers at Northwestern University in Chicago believe they have found a common genetic cause for all forms of an incurable disease called ALS or amyotrophic lateral sclerosis.
The discovery could speed development of a treatment for this degenerative disease, which afflicts 350,000 people worldwide.
Americans learned about amyotrophic lateral sclerosis from a well-known athlete named Lou Gehrig, a first baseman for the New York Yankees baseball team.
Gehrig gracefully bowed out of the game in 1939 after he was diagnosed with ALS. The illness is sometimes called "Lou Gehrig’s Disease."
In this neurodegenerative disorder, nerve cells that control the body's voluntary movements become damaged and no longer communicate properly with the muscles.
ALS begins with symptoms such as stumbling, muscle stiffness or cramping, eventually causing weakness in an arm or leg, slurred or distorted speech. ALS patients lose the ability to move their arms, legs and body.
Dr. Teepu Siddique led the research team at Northwestern University. He says as the disease progresses, the patient eventually becomes trapped in his own body, unable to swallow, speak or breathe. “From a human point of view, it’s a very degrading experience, besides being fatal," he said.
ALS patients usually die within two to five years from onset.
There is no cure, and until recently there was no known cause. But at Northwestern University, a team of scientists from the United States and Canada recently reported a breakthrough: they found common genetic traits among a group of families with ALS.
The key could be a gene called Ubiquilin-two.
Normally the gene recycles and repairs the proteins critical to the functioning of nerve cells in the spinal cord and brain. But in ALS patients, Ubiquilin-two breaks down and proteins are not repaired, causing progressive damage to the neurons.
Dr. Siddique says this discovery will help direct future research towards a single treatment. “It provides us insight into how this may be happening in terms of mechanism of disease. Mechanism of disease is the most difficult question in neurodegeneration: why and how cells become sick and degenerate, how they lose their connections to the periphery, those are the major questions of the disease," he said.
The Saltzman family knows the tragic consequences of ALS and has participated in the ongoing research. Joanne Saltzman lost her grandmother, father, two aunts and her son to the disease. She worries about what lies ahead for her own grandchildren.
Saltzman says her family hopes that Dr. Siddique and his team of researchers will develop a drug that will at least buy time for ALS patients living now with the disease, and possibly a cure for those diagnosed with it in the future.
