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. auto paint supply orange county ca


    June 4, 2021 at 02:59 | Report abuse | Reply
  2. applebees near me

    Way cool! Some very valid points! I appreciate you writing this post plus the rest of the site is really good.


    June 4, 2021 at 02:59 | Report abuse | Reply
  3. Mercedes Benz Sprinter Authorized Repair Shop

    I blog often and I seriously appreciate your information. This article has really peaked my interest. I am going to bookmark your site and keep checking for new information about once a week. I subscribed to your Feed too.


    June 4, 2021 at 03:00 | Report abuse | Reply
  4. Pump Windshield Washer Sprinter Repair

    Hello, I think your web site could be having internet browser compatibility issues. Whenever I look at your website in Safari, it looks fine but when opening in Internet Explorer, it's got some overlapping issues. I just wanted to give you a quick heads up! Apart from that, wonderful site!


    June 4, 2021 at 05:10 | Report abuse | Reply
  5. 진주출장

    I must thank you for the efforts you have put in writing this blog. I really hope to view the same high-grade content by you in the future as well. In fact, your creative writing abilities has motivated me to get my own website now 😉


    June 4, 2021 at 05:40 | Report abuse | Reply
  6. 구미출장안마

    I could not refrain from commenting. Well written!


    June 4, 2021 at 08:20 | Report abuse | Reply
  7. rv service orange county ca

    Great article. I am dealing with some of these issues as well..


    June 4, 2021 at 10:24 | Report abuse | Reply
  8. 2003 Sprinter Ac Repair

    Saved as a favorite, I really like your blog!


    June 4, 2021 at 14:19 | Report abuse | Reply
  9. acupuncture near me


    June 4, 2021 at 14:23 | Report abuse | Reply
  10. Mercedes-Benz Sprinter Repair Shop Near Me

    I used to be able to find good information from your blog posts.


    June 4, 2021 at 14:44 | Report abuse | Reply
  11. Handicap Van Repair

    You've made some good points there. I checked on the web for more info about the issue and found most people will go along with your views on this web site.


    June 4, 2021 at 15:40 | Report abuse | Reply
  12. 출장마사지

    I'm more than happy to uncover this page. I need to to thank you for ones time due to this fantastic read!! I definitely appreciated every bit of it and i also have you saved to fav to see new information in your web site.


    June 4, 2021 at 17:03 | Report abuse | Reply
  13. Diesel Sprinter Repair Service


    June 4, 2021 at 18:14 | Report abuse | Reply
  14. 출장 마사지

    There's definately a lot to know about this subject. I love all the points you've made.


    June 4, 2021 at 23:59 | Report abuse | Reply
  15. Internet Marketing Agencies

    Good blog you've got here.. Itís hard to find high quality writing like yours these days. I really appreciate people like you! Take care!!


    June 5, 2021 at 02:50 | Report abuse | Reply
  16. RV And Camper Repair Near Me


    June 5, 2021 at 03:25 | Report abuse | Reply
  17. Sprinter Armrest Repair

    An impressive share! I have just forwarded this onto a friend who had been doing a little homework on this. And he in fact ordered me dinner because I discovered it for him... lol. So let me reword this.... Thanks for the meal!! But yeah, thanks for spending time to discuss this matter here on your website.


    June 5, 2021 at 03:29 | Report abuse | Reply
  18. motorhome body shop


    June 5, 2021 at 03:33 | Report abuse | Reply
  19. shooting range near me


    June 5, 2021 at 03:35 | Report abuse | Reply
  20. 2007 Sprinter Rear Heater Repair

    The very next time I read a blog, Hopefully it doesn't fail me as much as this particular one. I mean, I know it was my choice to read through, but I truly thought you would probably have something helpful to talk about. All I hear is a bunch of complaining about something that you could possibly fix if you were not too busy searching for attention.


    June 5, 2021 at 05:02 | Report abuse | Reply
  21. malaraquin

    hydroxychloroquine chloroquine malaria prophylaxis hydroxchloroquin

    June 5, 2021 at 08:01 | Report abuse | Reply
  22. 경주출장안마

    Iím impressed, I have to admit. Seldom do I encounter a blog thatís both equally educative and entertaining, and without a doubt, you have hit the nail on the head. The issue is something which not enough people are speaking intelligently about. I'm very happy that I came across this during my hunt for something regarding this.


    June 5, 2021 at 19:37 | Report abuse | Reply
  23. 최상위 파워볼 사이트

    Nice post. I learn something totally new and challenging on websites I stumbleupon everyday. It's always helpful to read through articles from other writers and use something from their websites.


    June 5, 2021 at 20:10 | Report abuse | Reply
  24. Sprinter Repair Near Me

    bookmarked!!, I like your web site!


    June 5, 2021 at 21:27 | Report abuse | Reply
  25. vinyl wrap rv

    I love looking through an article that can make people think. Also, thank you for allowing for me to comment!


    June 5, 2021 at 22:10 | Report abuse | Reply
  26. urologist near me


    June 6, 2021 at 00:50 | Report abuse | Reply
  27. cheap generic cialis for sale

    sx brands coupons tadalafil tadalafil 20mg side effects

    June 6, 2021 at 03:34 | Report abuse | Reply
  28. Dodge Sprinter Service


    June 6, 2021 at 06:16 | Report abuse | Reply
  29. what is clonidine

    what does hydroxychloroquine treat chloroquine coronavirus hydroxchloroquine

    June 6, 2021 at 12:51 | Report abuse | Reply
  30. 파워볼 사이트

    This site was... how do I say it? Relevant!! Finally I've found something that helped me. Many thanks!


    June 6, 2021 at 14:45 | Report abuse | Reply
  31. 파워볼전용사이트

    Very good article. I will be dealing with a few of these issues as well..


    June 6, 2021 at 16:35 | Report abuse | Reply
  32. 안전파워볼

    Hi there, I think your blog could be having internet browser compatibility problems. Whenever I look at your website in Safari, it looks fine however when opening in IE, it has some overlapping issues. I just wanted to give you a quick heads up! Aside from that, wonderful blog!


    June 6, 2021 at 20:46 | Report abuse | Reply
  33. 메이저사이트

    It's truly a nice and helpful piece of information. I
    am satisfied that you just shared this useful info with us.
    Please keep us informed like this. Thanks for sharing.

    my blog post :: 메이저사이트

    June 6, 2021 at 22:17 | Report abuse | Reply
  34. orange county ca rv parks


    June 6, 2021 at 22:18 | Report abuse | Reply
  35. linplay

    can now select multiple platforms to harvest from at the same time,


    June 7, 2021 at 00:44 | Report abuse | Reply
  36. dashboard repair shops

    You've made some good points there. I looked on the web for more information about the issue and found most people will go along with your views on this site.


    June 7, 2021 at 04:26 | Report abuse | Reply
  37. Auto Sprinter Repair

    May I just say what a comfort to discover a person that really knows what they're talking about online. You certainly understand how to bring an issue to light and make it important. A lot more people need to read this and understand this side of your story. I can't believe you aren't more popular because you certainly possess the gift.


    June 7, 2021 at 05:09 | Report abuse | Reply
  38. 파워볼사이트

    Excellent post! We will be linking to this great content on our site. Keep up the good writing.


    June 7, 2021 at 05:11 | Report abuse | Reply
  39. wanda maximoff halloween costume wandavision

    WandaVision episode 6 was a Halloween unique with colorful costumes that paid homage to the original Wonder Comic books character layouts.


    June 7, 2021 at 15:25 | Report abuse | Reply
  40. rv remodeling supplies

    Spot on with this write-up, I truly believe that this site needs a great deal more attention. Iíll probably be back again to read through more, thanks for the advice!


    June 7, 2021 at 22:55 | Report abuse | Reply
  41. bucket truck repair near me


    June 7, 2021 at 23:02 | Report abuse | Reply
  42. RV Batteries Los Angeles


    June 7, 2021 at 23:02 | Report abuse | Reply
  43. 부산출장안마후불

    Everything is very open with a precise description of the issues. It was really informative. Your website is useful. Thanks for sharing!


    June 8, 2021 at 03:13 | Report abuse | Reply
  44. horse trailer service


    June 8, 2021 at 14:37 | Report abuse | Reply
  45. store xnxx


    June 8, 2021 at 16:36 | Report abuse | Reply
  46. RV Supplies Orange County

    Very good blog post. I absolutely appreciate this website. Stick with it!


    June 8, 2021 at 18:12 | Report abuse | Reply
  47. all class rv yorba linda


    June 8, 2021 at 19:27 | Report abuse | Reply
  48. 부산출장

    You should be a part of a contest for one of the most useful sites on the internet. I most certainly will recommend this website!


    June 9, 2021 at 01:35 | Report abuse | Reply
  49. 리니지프리서버

    good 리니지프리서버nice!!!!


    June 9, 2021 at 02:58 | Report abuse | Reply
  50. Local Marketing Agencies

    After looking over a number of the blog articles on your blog, I seriously like your way of blogging. I book marked it to my bookmark webpage list and will be checking back soon. Take a look at my website as well and let me know what you think.


    June 9, 2021 at 04:55 | 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 온라인바둑이


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.