New ALS gene mutation discovered
September 21st, 2011
12:01 PM ET

New ALS gene mutation discovered

Researchers have identified a genetic abnormality which they believe to be the most common cause of  two devastating neurological diseases and could provide future clues to treatment.  Two new studies, published online in the journal Neuron, found that amyotrophic lateral sclerosis (ALS) also known as Lou Gehrig's disease and frontotemporal dementia or FTD that run in families are caused in many cases by a mutation on a single gene on chromosome number 9.  This mutation causes a short DNA sequence to repeat over and over, much more frequently than in healthy people.  The ALS Association, which funded both studies, calls the identification of this genetic mutation "a major milestone in ALS research."

According to the data, in healthy individuals the DNA sequence repeats 2 to 23 times. In 23% of familial ALS patients and 12% of familial FTD patients the sequence repeated 700-1,600 times.

ALS and FTD are both fatal neurological diseases of the brain. In ALS, nerve cells in the brain and spinal cord begin to degenerate and patients lose the ability to move their bodies and breathe. Almost 6,000 American are diagnosed with the crippling disease each year.  FTD causes the degeneration of parts of the brain that control language, emotion, behavioral control and the ability to make decisions (the temporal and frontal lobes).  About 20-40% of people with FTD have a family history of the disease.

One study looked at patients in Finland which has a high population of ALS patients, according to lead study author Dr. Bryan Traynor from the National Institute on Aging (NIA).

"With this finding we've gone from understanding a quarter of familial ALS to two-thirds of familial ALS," Traynor said. "In terms of thinking of the future, what this provides us with is a target to go after. What this allows us to do is to design cell models and animal models of disease we can use to start to screen drugs, and therapeutic agents to see if they are effective in turning off this particular genetic mutation."

Traynor says there are 4 genes known to account for 25% of all familial ALS cases. The chromosome 9 gene accounts for an additional 40%.

In the second study, researchers at the Mayo Clinic in Jacksonville, Florida also found the same repeat DNA sequence. "This finding has the potential to lead to significant insights into how both of these neurodegenerative diseases develop," Senior Investigator Dr. Rosa Rademakers, neuroscientist at the Mayo Clinic said. "And may give us much needed leads into new ways to treat our patients."

The ALS Association's Chief Scientist Lucie Bruijn calls the new data tremendously exciting. "These findings will significantly impact the field as we begin to understand more about the consequences of these changes to the disease process, aid or understanding of FTD and ALS, potentially provide a diagnostic tool, and enable the development of new therapeutic approaches."

Still, Traynor says he wants to keep expectations within bounds and be careful not to raise false hopes. That's because typically it's 10 years from gene discovery to clinical trial. He says that's a long time when ALS patients usually live 2-3 years after the onset of symptoms.

"It's a step forward, Traynor said. "Now we know which room in which house on which street in which city and that knowledge facilitates ultimately working up a treatment that will slow down this fatal disease.".

soundoff (228 Responses)
  1. 우리카지노계열

    Hello there! This blog post could not be written any better! Looking through this post reminds me of my previous roommate! He constantly kept preaching about this. I most certainly will forward this article to him. Pretty sure he'll have a very good read. Many thanks for sharing!


    April 17, 2021 at 06:09 | Report abuse | Reply
  2. 사설토토

    Spot on with this write-up, I seriously believe that this amazing site needs far more attention. Iíll probably be returning to see more, thanks for the advice!


    April 17, 2021 at 09:16 | Report abuse | Reply
  3. zithromax order

    zpack name https://zithromaxes.com/ zithromax indication

    April 17, 2021 at 15:02 | Report abuse | Reply
  4. impotence

    erectile dysfunction natural remedies https://canadaerectiledysfunctionpills.com/ erectile tissue

    April 17, 2021 at 16:19 | Report abuse | Reply
  5. 토토사이트


    April 17, 2021 at 17:58 | Report abuse | Reply
  6. 토토사이트


    April 17, 2021 at 23:35 | Report abuse | Reply
  7. vardenafil cheap

    vardenafil 20mg dosage https://vegavardenafil.com/ vardenafil buy

    April 18, 2021 at 13:16 | Report abuse | Reply
  8. 먹튀검증

    There is definately a great deal to learn about this subject. I like all of the points you've made.


    April 19, 2021 at 02:11 | Report abuse | Reply
  9. 카지노사이트

    I couldnít resist commenting. Exceptionally well written!


    April 19, 2021 at 03:51 | Report abuse | Reply
  10. Foam insulation pipe price

    Our API 5L smooth line pipeline is excellent for the petroleum as well as gas sectors. API 5L line pipe appropriates for transferring gas, water, as well as oil.


    April 19, 2021 at 08:59 | Report abuse | Reply
  11. 먹튀검증사이트

    You have made some good points there. I looked on the internet for more info about the issue and found most individuals will go along with your views on this web site.


    April 19, 2021 at 17:40 | Report abuse | Reply
  12. 우리카지노

    Oh my goodness! Impressive article dude! Thank you, However I am experiencing troubles with your RSS. I donít understand why I cannot subscribe to it. Is there anyone else getting identical RSS problems? Anybody who knows the solution will you kindly respond? Thanx!!


    April 19, 2021 at 19:39 | Report abuse | Reply
  13. 먹튀


    April 20, 2021 at 06:29 | Report abuse | Reply
  14. 먹튀


    April 20, 2021 at 14:05 | Report abuse | Reply
  15. 먹튀검증

    This web site really has all the info I wanted about this subject and didnít know who to ask.


    April 20, 2021 at 23:36 | Report abuse | Reply
  16. 먹튀검증사이트


    April 21, 2021 at 03:46 | Report abuse | Reply
  17. 먹튀

    Nice post. I learn something new and challenging on blogs I stumbleupon on a daily basis. It will always be useful to read articles from other writers and use a little something from other sites.


    April 21, 2021 at 10:11 | Report abuse | Reply
  18. kaos distro anak

    Wow, marvelous blog layout! How long have you been blogging for? you made blogging look easy. The overall look of your site is magnificent, let alone the content!


    April 21, 2021 at 17:47 | Report abuse | Reply
  19. 먹튀검증업체


    April 21, 2021 at 23:40 | Report abuse | Reply
1 2 3 4 5

Post a comment


CNN welcomes a lively and courteous discussion as long as you follow the Rules of Conduct set forth in our Terms of Service. Comments are not pre-screened before they post. You agree that anything you post may be used, along with your name and profile picture, in accordance with our Privacy Policy and the license you have granted pursuant to our Terms of Service.

About this blog

Get a behind-the-scenes look at the latest stories from CNN Chief Medical Correspondent, Dr. Sanjay Gupta, Senior Medical Correspondent Elizabeth Cohen and the CNN Medical Unit producers. They'll share news and views on health and medical trends - info that will help you take better care of yourself and the people you love.