home
RSS
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 (985 Responses)
  1. 출장마사지

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

    http://mail.megainf.ru/user/casino0s5kfeor269

    June 22, 2021 at 02:41 | Report abuse | Reply
  2. 먹튀

    After I originally commented I appear to have clicked on the -Notify me when new comments are added- checkbox and now whenever a comment is added I receive four emails with the same comment. Is there a way you can remove me from that service? Cheers!

    http://w-w-b.net.ua/user/quiethyena40/

    June 22, 2021 at 03:37 | Report abuse | Reply
  3. 출장

    I blog frequently and I seriously appreciate your information. This great article has truly peaked my interest. I'm going to book mark your blog and keep checking for new information about once per week. I subscribed to your Feed as well.

    http://www.joi3.com/go.php?url=https://penzu.com/p/cae7c1a4

    June 22, 2021 at 04:06 | Report abuse | Reply
  4. 케이출장

    Greetings! Very useful advice in this particular article! It's the little changes which will make the largest changes. Many thanks for sharing!

    http://uploadb.me/direct/lb5gn4b1tpz4/276210.pdf.html

    June 22, 2021 at 04:41 | Report abuse | Reply
  5. 토토사이트

    An outstanding share! I've just forwarded this onto a friend who was conducting a little research on this. And he in fact bought me lunch because I found it for him... lol. So let me reword this.... Thanks for the meal!! But yeah, thanks for spending time to discuss this subject here on your web site.

    https://medvacancy.ru/user/profile/12622

    June 22, 2021 at 06:25 | Report abuse | Reply
  6. goal group

    http://www.eichenbaum.com/__media__/js/netsoltrademark.php?d=realchrisburns.com

    June 22, 2021 at 06:30 | Report abuse | Reply
  7. Mercedes Luxury Van Repair

    http://myhep-c.com/__media__/js/netsoltrademark.php?d=fleetrepairshops.com

    June 22, 2021 at 06:32 | Report abuse | Reply
  8. 출장마사지

    There is definately a lot to learn about this topic. I love all of the points you have made.

    http://chernousovajazz.ru/user/casino3d7fzyga924

    June 22, 2021 at 06:36 | Report abuse | Reply
  9. Mercedes Camper Van Repair Shop

    I could not resist commenting. Perfectly written!

    http://www.valuebasedcapital.com/__media__/js/netsoltrademark.php?d=boxtruckrepairshop.com

    June 22, 2021 at 08:18 | Report abuse | Reply
  10. 출장안마

    Hello there! I simply would like to give you a huge thumbs up for your excellent info you have here on this post. I will be coming back to your web site for more soon.

    https://zo-azie.nl/forum/index.php?action=profile;area=forumprofile;u=294579

    June 22, 2021 at 08:28 | Report abuse | Reply
  11. RV Repair Huntington Beach

    May I just say what a comfort to find someone who really knows what they're discussing on the web. You actually realize how to bring a problem to light and make it important. More people ought to check this out and understand this side of the story. It's surprising you aren't more popular given that you most certainly have the gift.

    http://onlineeyes.com/__media__/js/netsoltrademark.php?d=ocrvmotorsports.life

    June 22, 2021 at 08:33 | Report abuse | Reply
  12. Authorized Mercedes Benz Service Centers Near Me

    http://bittime.com/__media__/js/netsoltrademark.php?d=www.commercialrepairshop.com/

    June 22, 2021 at 08:45 | Report abuse | Reply
  13. Sprinter Van Mechanic

    http://freeccr.info/__media__/js/netsoltrademark.php?d=customcampervans.com

    June 22, 2021 at 09:20 | Report abuse | Reply
  14. Sprinter Repair Shop Near Me

    http://www.aggressivebabes.com/cgi-bin/at3/out.cgi?id=130&trade=https://ocrvandtrucks.com/

    June 22, 2021 at 10:41 | Report abuse | Reply
  15. RV Repairs Near Me

    You are so cool! I don't believe I've truly read through anything like that before. So good to find someone with some original thoughts on this topic. Seriously.. thanks for starting this up. This website is one thing that is needed on the web, someone with a bit of originality!

    http://www.ass-media.de/wbb2/redir.php?url=http://www.ocrv.org/

    June 22, 2021 at 12:13 | Report abuse | Reply
  16. 출장안마

    Saved as a favorite, I love your blog!

    http://sergiubaluta.com/site/redirect.php?url=https://postheaven.net/massage8v9xlcac352/h2-barefoot-ashiatsu-care-what-are-the-advantages-h2-are-you-aware-that

    June 22, 2021 at 12:39 | Report abuse | Reply
  17. Delinda Bovio

    http://flu-track.net/__media__/js/netsoltrademark.php?d=nearme.a2hosted.com/nearest-service-near-me-now

    June 22, 2021 at 13:13 | Report abuse | Reply
  18. 케이출장

    Very good info. Lucky me I ran across your blog by accident (stumbleupon). I have saved as a favorite for later!

    http://massage9sloganpjkj.almoheet-travel.com/15-best-blogs-to-follow-about-chuljang-anma

    June 22, 2021 at 14:37 | Report abuse | Reply
  19. Custom Paint Shop Near Me

    http://kmx.kr/shop/bannerhit.php?url=https://fleetvehiclerepairshop.com

    June 22, 2021 at 14:42 | Report abuse | Reply
  20. make me smart podcast

    http://cyberanthro.com/__media__/js/netsoltrademark.php?d=backbonehunters.com

    June 22, 2021 at 15:51 | Report abuse | Reply
  21. 출장

    A fascinating discussion is worth comment. I do think that you should write more about this subject, it may not be a taboo matter but typically folks don't speak about such issues. To the next! Best wishes!!

    https://www.goswm.com/redirect.php?url=https://canvas.instructure.com/eportfolios/128982/massage3ephardsezr/10_Tips_for_Making_a_Good__Even_Better

    June 22, 2021 at 16:11 | Report abuse | Reply
  22. overcast podcast

    When I originally left a comment I seem to have clicked on the -Notify me when new comments are added- checkbox and now every time a comment is added I get 4 emails with the exact same comment. Perhaps there is a way you are able to remove me from that service? Many thanks!

    http://www.wheatlandtubecompany.biz/__media__/js/netsoltrademark.php?d=backbonehunters.com

    June 22, 2021 at 19:03 | Report abuse | Reply
  23. RV Repair Store Near Me

    http://www.mygiftlist.com/mglad/redir.asp?url=https://ocrv.me/

    June 22, 2021 at 21:16 | Report abuse | Reply
  24. 먹튀검증커뮤니티

    The very next time I read a blog, Hopefully it doesn't disappoint me as much as this one. I mean, I know it was my choice to read through, nonetheless I actually thought you would have something useful to talk about. All I hear is a bunch of crying about something you could fix if you were not too busy looking for attention.

    https://pbase.com/topics/routerclub01/just_how_can_a_roulette_vide

    June 23, 2021 at 00:15 | Report abuse | Reply
  25. RV Repair Shops Near Me

    Excellent article. I certainly appreciate this website. Thanks!

    http://baccaratcasablancaresidences.com/__media__/js/netsoltrademark.php?d=ocrvcenter.com/

    June 23, 2021 at 01:07 | Report abuse | Reply
  26. RV Plumbing Repair Near Me

    Everyone loves it when folks come together and share views. Great site, stick with it!

    http://bestamericancuisine.com/__media__/js/netsoltrademark.php?d=ocrvmotorsports.co/

    June 23, 2021 at 02:48 | Report abuse | Reply
1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20

Leave a Reply to Dudley Lasagna


 

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.

Advertisement
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.