Posted at: 09/18/2012 10:45 AM
Updated at: 09/18/2012 5:53 PM
By: Ellery McCardle

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Medical Edge: Researching the ALS Gene

(ABC 6 NEWS) -- Mayo Clinic is making strides in learning more about two deadly brain diseases, Lou Gehrig's disease, known as ALS and a type of dementia.

The breakthroughs could help change future treatments and the life span of victims.
 
ALS is a condition that slowly robs your ability to move, eat or breathe.  FTD causes severe personality changes. Both are fatal because they cause cells in the brain to die. For years, scientists have been searching for reasons as to why this happens. Now one Mayo Clinic team has some answers.

"it was really a race to try and find this," said Dr. Rosa Rademakers, a neuroscientist Mayo Clinic.

For four years her team studied genetic information of families who had ALS and FTD.       

"One day we were looking at the computer screen and all of the sudden there was this special pattern that was only present in the patients and not present in the healthy individuals and at that moment we knew that this was very likely to be it," said Rademakers. 

It was a never-before-seen genetic mutation.

"You can see in this pattern, where the peaks fluctuate from large to small. This strange pattern is not present in healthy patients," said Rademakers.

Before their their discovery, Radamakers says there were other genes found thought to cause about 20% of all ALS and FTD cases. Her new discovery explains even more; up to half of all ALS cases and about one-third of all FTD cases.

"Every time we identify a new gene, we understand a little bit more about what it is that's causing the disease in these patients, what it is that makes these brain cells die," said Rademakers.

She says this discovery will open new research that may one day lead to therapies to help improve and prolong the lives of those suffering.

"Our hope is that we find methods to identify who will develop the disease so that we can interfere with it before it's too late, before the important brain cells have died," said Rademakers. 

She is hopeful her team's findings will help other researchers develop ways to fight these deadly diseases.