At last, a cause found for Lou Gehrig's disease

On July 4, 1939, a young man in his 30s held a retirement party. He stood in a pinstripe uniform before an adoring, emotional crowd at Yankee Stadium and declared himself "the luckiest man on the face of the earth...I might have been given a bad break, but I've got an awful lot to live for." Sadly, two years later, Lou Gehrig would be dead at the age of 37. The "bad break" he referred to was amyotrophic lateral sclerosis--a neurodegenerative disease from then on popularly known as Lou Gehrig's disease. Now, 72 years later, researchers at Northwestern University in Chicago think they at last have found an answer that could lead to treatment for this disease.

Researchers writing in the journal Nature point out that ALS is usually sporadic, meaning its origins are unknown. Over time, scientists have found that about 10% of cases run in families and, among those, several mutations have been found, accounting for about 30% of hereditary ALS. The rest has remained a mystery...until now. Northwestern researcher Teepu Siddique, who has spent two decades studying Lou Gehrig's disease, found the disease is caused by an inability of a protein system to repair the nerve cells that tell the muscles what to do, reports WebMD. The protein is called ubiquilin2; in ALS patients, it does not do its job very well. This leads to an accumulation of damaged proteins in nerve cells in the spinal cord and brain and eventually paralysis and death.

"This is the first time we could connect (ALS) to a clear-cut biomedical mechanism," Siddique tells the Chicago Tribune. "It has really made the direction we have to take very clear and sharp. We can now test for drugs that would regulate this protein pathway or optimize it, so it functions as it should in a normal state."

Not only that, but the discovery could also lead to treatments for other neurodegenerative diseases like Alzheimer's or Parkinson's.

The Tribune reports Siddique has been working for the past quarter century with a family that has lost more than 20 members to ALS. It was Siddique's study of this family that lead to discovery of a familial gene for ALS in the early 1990s. 

"I told Dr. Siddique's office, if I could cut off my arm and send it to them I would if it would help them in the research," 72-year-old Joanne Saltzman, a member of the family, told the Tribune in reaction to Siddique's new findings. "I would do anything. It is so important to me to be able to find some kind of cure for this awful disease."

- read the full story in the Chicago Tribune
- MedPage Today filed this report
- and WebMD covers it, too
- you can read the abstract in the journal Nature