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 (1,143 Responses)
  1. Internet Marketing Specialist

    Hi! I could have sworn Iíve visited this web site before but after looking at many of the posts I realized itís new to me. Nonetheless, Iím definitely happy I stumbled upon it and Iíll be book-marking it and checking back regularly!


    June 20, 2021 at 01:52 | Report abuse | Reply
  2. Social Media Marketing Firm

    After I originally commented I appear to have clicked the -Notify me when new comments are added- checkbox and now each time a comment is added I recieve four emails with the exact same comment. Is there an easy method you can remove me from that service? Thank you!


    June 20, 2021 at 02:44 | Report abuse | Reply
  3. Local Marketing Business

    A motivating discussion is worth comment. I think that you should write more on this topic, it might not be a taboo matter but generally people don't talk about these subjects. To the next! Cheers!!


    June 20, 2021 at 04:20 | Report abuse | Reply
  4. Local Marketing Companies Near Me

    Great info. Lucky me I found your site by chance (stumbleupon). I've book marked it for later!


    June 20, 2021 at 05:12 | Report abuse | Reply
  5. Abram Bosch

    How do I create a feed of the comments I add to others' blog posts?


    June 20, 2021 at 07:55 | Report abuse | Reply
  6. 먹튀검증

    Your style is unique in comparison to other folks I've read stuff from. Many thanks for posting when you have the opportunity, Guess I will just bookmark this site.


    June 20, 2021 at 10:45 | Report abuse | Reply
  7. 먹튀커뮤니티

    Having read this I thought it was really informative. I appreciate you finding the time and energy to put this information together. I once again find myself spending way too much time both reading and posting comments. But so what, it was still worth it!


    June 20, 2021 at 11:57 | Report abuse | Reply
  8. Sandie Bertinetti

    Hi, I do think this is an excellent blog. I stumbledupon it 😉 I may revisit once again since i have saved as a favorite it. Money and freedom is the best way to change, may you be rich and continue to help others.


    June 20, 2021 at 12:35 | Report abuse | Reply
  9. 부산출장

    Howdy! This article couldnít be written any better! Reading through this post reminds me of my previous roommate! He continually kept talking about this. I am going to forward this information to him. Fairly certain he will have a great read. Thank you for sharing!


    June 20, 2021 at 12:54 | Report abuse | Reply
  10. Samantha Crookston


    June 20, 2021 at 13:39 | Report abuse | Reply
  11. Maybelle Elbers

    How do I go about removing articles that breach copyright?


    June 20, 2021 at 14:40 | Report abuse | Reply
  12. Evan Preza

    what is the procedure to copyright a blog content (text and images)?


    June 20, 2021 at 15:01 | Report abuse | Reply
  13. Abram Bosch

    I want to know where exactly to paste the code on my template in my blog so that the 'Digg It' Button shows up for each and every post of mine.. . Also If I want to show how many diggs I got on one of my blog post where do I show it? Where exactly do I put the code? And where do I get the code from? Thanks for helping me with this..


    June 20, 2021 at 15:08 | Report abuse | Reply
  14. Norbert Margan


    June 20, 2021 at 15:37 | Report abuse | Reply
  15. 토토사이트

    Very nice write-up. I definitely love this site. Keep writing!


    June 20, 2021 at 17:02 | Report abuse | Reply
  16. Yuko Jumalon

    Greetings! Very useful advice in this particular article! It is the little changes that make the largest changes. Many thanks for sharing!


    June 20, 2021 at 18:20 | Report abuse | Reply
  17. 울산출장안마

    You're so cool! I do not suppose I've truly read anything like that before. So nice to discover another person with unique thoughts on this topic. Really.. many thanks for starting this up. This web site is something that is required on the internet, someone with a bit of originality!


    June 20, 2021 at 18:25 | Report abuse | Reply
  18. 토토사이트

    There's certainly a lot to find out about this topic. I like all of the points you have made.


    June 20, 2021 at 18:27 | Report abuse | Reply
  19. Leonida Therrell

    You should take part in a contest for one of the finest websites online. I will highly recommend this site!


    June 20, 2021 at 20:08 | Report abuse | Reply
  20. 먹튀

    I love it whenever people get together and share thoughts. Great site, stick with it!


    June 20, 2021 at 21:18 | Report abuse | Reply
  21. 먹튀검증커뮤니티

    This page definitely has all the information I wanted concerning this subject and didnít know who to ask.


    June 20, 2021 at 23:23 | Report abuse | Reply
  22. cvs pharmacy near me


    June 20, 2021 at 23:25 | Report abuse | Reply
  23. 먹튀검증

    I wanted to thank you for this very good read!! I certainly loved every bit of it. I have you saved as a favorite to check out new things you postÖ


    June 20, 2021 at 23:33 | Report abuse | Reply
  24. camping near me


    June 21, 2021 at 00:29 | Report abuse | Reply
  25. on front page

    I couldn't refrain from commenting. Very well written!


    June 21, 2021 at 02:05 | Report abuse | Reply
  26. golf course near me

    I was very happy to uncover this great site. I need to to thank you for ones time for this fantastic read!! I definitely loved every part of it and i also have you saved to fav to check out new stuff on your website.


    June 21, 2021 at 02:27 | Report abuse | Reply
  27. 창원출장안마

    Good site you've got here.. Itís difficult to find high-quality writing like yours these days. I truly appreciate people like you! Take care!!


    June 21, 2021 at 03:24 | Report abuse | Reply
  28. 먹튀검증

    That is a really good tip particularly to those new to the blogosphere. Brief but very accurate infoÖ Many thanks for sharing this one. A must read article!


    June 21, 2021 at 04:06 | Report abuse | Reply
  29. nurseries near me

    Great web site you have here.. Itís hard to find quality writing like yours nowadays. I truly appreciate individuals like you! Take care!!


    June 21, 2021 at 05:13 | Report abuse | Reply
  30. huntington bank near me

    Your style is so unique compared to other folks I have read stuff from. I appreciate you for posting when you've got the opportunity, Guess I will just book mark this blog.


    June 21, 2021 at 06:58 | Report abuse | Reply
  31. 먹튀검증

    Howdy! I simply want to give you a huge thumbs up for the excellent info you have got here on this post. I will be coming back to your blog for more soon.


    June 21, 2021 at 07:54 | Report abuse | Reply
  32. metropcs near me


    June 21, 2021 at 09:41 | Report abuse | Reply
  33. 포항출장마사지

    Good information. Lucky me I discovered your blog by chance (stumbleupon). I have bookmarked it for later!


    June 21, 2021 at 12:31 | Report abuse | Reply
  34. 토토사이트

    Great article! We are linking to this particularly great article on our site. Keep up the great writing.


    June 21, 2021 at 12:47 | Report abuse | Reply
  35. Sprinter Climate Control Repair

    I enjoy reading through an article that will make people think. Also, thank you for allowing me to comment!


    June 21, 2021 at 14:52 | Report abuse | Reply
  36. 출장마사지

    Good post. I am experiencing many of these issues as well..


    June 21, 2021 at 14:52 | Report abuse | Reply
  37. Sprinter Van Repair San Diego


    June 21, 2021 at 15:47 | Report abuse | Reply
  38. 사설토토

    Itís hard to come by well-informed people on this topic, but you seem like you know what youíre talking about! Thanks


    June 21, 2021 at 17:00 | Report abuse | Reply
  39. Sprinter Window Regulator Repair


    June 21, 2021 at 17:23 | Report abuse | Reply
  40. enterprise near me


    June 21, 2021 at 17:28 | Report abuse | Reply
  41. 토토사이트

    I blog frequently and I genuinely appreciate your content. This great article has really peaked my interest. I will take a note of your site and keep checking for new details about once per week. I opted in for your Feed as well.


    June 21, 2021 at 18:36 | Report abuse | Reply
  42. for rent near me

    Saved as a favorite, I really like your blog!


    June 21, 2021 at 18:41 | Report abuse | Reply
  43. 토토사이트

    Pretty! This has been an incredibly wonderful post. Thank you for supplying these details.


    June 21, 2021 at 19:06 | Report abuse | Reply
  44. 출장안마

    Excellent write-up. I certainly appreciate this website. Keep it up!


    June 21, 2021 at 19:18 | Report abuse | Reply
  45. RV Repair Store Near Me


    June 21, 2021 at 19:57 | Report abuse | Reply
  46. visit here

    Ahaa, its good discussion on the topic of this post at this place at this web site, I have read all that, so now me also commenting here.


    June 21, 2021 at 20:42 | Report abuse | Reply
  47. RV Repair Services Near Me

    Very good write-up. I definitely love this website. Continue the good work!


    June 21, 2021 at 21:49 | Report abuse | Reply
  48. Pleasure Way Van Repair

    Good info. Lucky me I found your site by chance (stumbleupon). I've bookmarked it for later!


    June 22, 2021 at 01:10 | Report abuse | Reply
  49. business membership


    June 22, 2021 at 01:18 | Report abuse | Reply
  50. 메이저사이트

    Having read this I thought it was rather enlightening. I appreciate you spending some time and effort to put this short article together. I once again find myself personally spending way too much time both reading and leaving comments. But so what, it was still worthwhile!


    June 22, 2021 at 01:40 | Report abuse | Reply
1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23

Leave a Reply to 파워볼 사이트


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.