New research sheds light on possible cause of ALS - AmericaNowNews.com

New research on Lou Gehrig's Disease

What do Lou Gehrig, Stephen Hawking and 30,000 Americans today have in common? A disease with no cure, and until now, no known cause. 

ALS is also called Lou Gehrig's Disease, which is named after the famous baseball player who was diagnosed with it in 1939. It is a terminal illness that affects the nerve cells in the brain and spinal cord. If those cells die, they can't move certain muscles and the body begins to waste away. 

Some new research suggests that ALS develops because the cells aren't taking out the 'trash.' 

Your office and the cells in your body have something in common. Because of all the work going on, there's also a lot of waste. Just as paper can accumulate in your office, proteins are the unnecessary clutter in a cell. If the garbage isn't picked up in your office, it piles up. Soon, there's not enough space to function. Similarly, when there's no free space in a human cell, it shuts down.

It's a simple idea, but add 30 years of research behind it and you can now understand the cause of ALS.  

Jay Tolar was diagnosed with ALS in 2009. He knew something was wrong when it became difficult for him to hold a book.

"I thought, that's weird," Tolar recalls. 

It was even stranger when this fit, 45-year-old gym teacher couldn't complete a single push up, or hold a pen to paper. After countless tests, doctors informed Tolar he had a terminal disease that started with his hands: ALS.

"ALS, to me, is one of the most brutal diseases that exists," Tolar said. 

Like more than 5,600 other individuals diagnosed with the disease every year in the United States, Tolar braced himself for what was ahead.

Only 50 percent of the people with ALS live three years or more after their diagnosis, and the decline is often dramatic.

"Gradually, it takes away all the muscle to where you can't breathe, you can't eat, you can't function, you can't communicate," Tolar said. "You're just locked inside a prison where you can't do anything."  

But thanks to Dr. Benjamin Brooks and his colleagues at the Carolinas Neuromuscular ALS MDA Center in Charlotte, NC, there is hope for those with ALS.

"All the community, all the ALS community has been waiting for something like this to happen," Brooks said.  

It took 30 years of research for all of the light bulbs to go on, shining light on the cause of both types of ALS. 

Scientists now know that ALS deals with a genetic mutation on the X chromosome. ALS occurs less frequently among women because they have two X chromosomes. A mutation in one chromosome can be overcome by the other. 

After that discovery, researchers pinpointed the gene called Ubiquitin, which acts as a cell's garbage disposal for protein build-up, specifically cells called motor neurons that fire our muscles to move. When there's a mutation in the Ubiquitin gene, the protein mess piles up. When motor neurons stop working, so do our muscles. 

That realization is what Dr. Brooks called an 'Ah-Ha' moment.  

He says it's similar to shining a light on a pathway so people can now look for new things like a cure for ALS. For the thousands of people like Tolar suffering from the disease, that cure can't come soon enough.

"I mean, it took 30 years to find this one thing, is it going to take 30 more to find a cure?" Tolar wonders. 

While it may take that long to find a cure, Dr. Brooks says this study is still a beacon of hope for better treatments, new pharmaceuticals and a reminder to continue to make the most of every moment.

"I'm still amazed that this is a place, where for a minimal fee, someone will bring hot pizza to your door," Tolar says. "Hot pizza to your door! How incredible is that?"

This research on ALS begins a new chapter on ALS that may re-write the ending line for the future tens of thousands waiting for an ALS lifeline.

Ubiquitin could be big news for several other neuro diseases. The gene has been a marker for dying cells in patients diagnosed with Alzheimer's and Parkinson's disease.

Understanding more about Ubiquitin in ALS might help doctors and researchers clean up confusion on those diseases, too.

Additional information:

  • This study was a collaborative effort between US and Canadian doctors and researchers, clinical centers.             
  • It took 30 years to track genetics of selected families to look for patterns.                  
  • The types of ALS include Familial ALS, Genetic (passed from parent to child), and Sporadic ALS.
  • Ninety percent of all cases have a genetic make-up that makes them susceptible to environmental factors.                               
  • There's a higher risk of being diagnosed with ALS for those who have served in the military or worked around chemicals.
  • Researchers saw Ubiquitin mutation present in both Familial and Sporadic ALS.
  • The Ubiquitin mutation allows protein to build up in the motor neuron which takes up space.
  • ALS usually strikes individuals between 40 and 60 years of age.
  • In the US, a little over 5,600 people are diagnosed every year or 15 new cases every day.
  • As many as 30,000 Americans have ALS at any given time.
  • According to the ALS CARE Database, 60 percent of the people with ALS are men and 93 percent are Caucasian.
  • Fifty percent of people live at least three years or more after diagnosis. Twenty-five percent live five years or more. Up to 10 percent live 10 years or more. 

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