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 (1,140 Responses)
  1. สล็อตโจ๊กเกอร์

    each time i used to read smaller content that
    as well clear their motive, and that is also happening with this
    post which I am reading now.

    June 9, 2021 at 11:01 | Report abuse | Reply
  2. Georgann Vonniederhaus

    http://sergiok70m8.blogdigy.com/significance-of-appointed-day-helpful-date-in-restructuring-15065771

    June 9, 2021 at 11:42 | Report abuse | Reply
  3. Shiloh Freeders

    Greetings! Very helpful advice within this article! It's the little changes that will make the greatest changes. Thanks for sharing!

    https://bitly.com/a/warning?hash=3nUs1YL&url=https://devind83g8.idblogz.com/4853416/fascination-about-corporate-coaching

    June 9, 2021 at 12:11 | Report abuse | Reply
  4. Chere Muyres

    Hello there! This post could not be written any better! Looking at this article reminds me of my previous roommate! He continually kept preaching about this. I am going to forward this post to him. Fairly certain he's going to have a great read. Thanks for sharing!

    https://www.bing.com/news/apiclick.aspx?ref=FexRss&aid=&url=https://cesart52k1.howeweb.com/4764515/how-much-you-need-to-expect-you-ll-pay-for-a-good-dodge-sprinter-repair-near-me

    June 9, 2021 at 12:14 | Report abuse | Reply
  5. Internet Marketing Business

    Hi there! This post could not be written any better! Looking through this post reminds me of my previous roommate! He always kept talking about this. I most certainly will forward this post to him. Fairly certain he will have a great read. Thanks for sharing!

    https://www.tkdk.gov.tr/Home/Dil?Dil=en&ReturnUrl=http://whatisdisplayadvertising.com/

    June 9, 2021 at 16:56 | Report abuse | Reply
  6. Temple Fernelius

    You are so cool! I do not believe I've truly read through anything like this before. So wonderful to discover someone with some genuine thoughts on this subject matter. Seriously.. thanks for starting this up. This site is something that is needed on the web, someone with a bit of originality!

    https://jasperj70n8.blogsumer.com/4158189/the-smart-trick-of-security-companies-that-nobody-is-discussing

    June 9, 2021 at 19:07 | Report abuse | Reply
  7. Diedre Andoh

    https://www.bing.com/news/apiclick.aspx?ref=FexRss&aid=&url=https://kylern81q9.59bloggers.com/4552580/considerations-to-know-about-mechanic

    June 9, 2021 at 23:00 | Report abuse | Reply
  8. Shawana Pinzon

    Aw, this was a very nice post. Taking the time and actual effort to generate a really good articleÖ but what can I sayÖ I procrastinate a lot and don't seem to get anything done.

    https://tieba.baidu.com/mo/q/checkurl?url=https://judahtkxk4.amoblog.com/getting-my-land-for-sale-cheney-wa-to-work-22153722

    June 9, 2021 at 23:15 | Report abuse | Reply
  9. German Chruch

    I couldnít resist commenting. Well written!

    June 9, 2021 at 23:15 | Report abuse | Reply
  10. rv repair near me

    https://www.domainsherpa.com/share.php?site=http://www.diybathroomdecorideas.blogspot.com/2020/08/small-rv-bathroom-remodel.html/

    June 10, 2021 at 00:41 | Report abuse | Reply
  11. Madlyn Rodrigus

    There's certainly a lot to learn about this issue. I like all the points you made.

    http://myleso92s0.blog-mall.com/5337849/time-for-kitchen-transforming-five-signs-that-provide-you-with-it-is-time-to-remodel

    June 10, 2021 at 02:34 | Report abuse | Reply
  12. Lurline Briola

    http://eduardou26k8.is-blog.com/5739806/helping-the-others-realize-the-advantages-of-security-companies

    June 10, 2021 at 09:59 | Report abuse | Reply
  13. rv repair service near me

    Pretty! This was an extremely wonderful article. Thank you for supplying this information.

    http://promo.pertinger.com/?URL=http://www.dot.mn/archives/943/comment-page-56/

    June 10, 2021 at 10:04 | Report abuse | Reply
  14. Nicol Andrulis

    Good web site you have got here.. Itís difficult to find high quality writing like yours these days. I honestly appreciate individuals like you! Take care!!

    June 10, 2021 at 10:11 | Report abuse | Reply
  15. 울산출장

    Hi! I could have sworn Iíve visited this blog before but after browsing through many of the posts I realized itís new to me. Anyways, Iím certainly happy I found it and Iíll be book-marking it and checking back regularly!

    http://www.casaberabbtrani.it/index.php?option=com_k2&view=itemlist&task=user&id=1626645

    June 10, 2021 at 10:42 | Report abuse | Reply
  16. 대구출장마사지

    Saved as a favorite, I like your web site!

    https://www.instapaper.com/p/clicknurse79

    June 10, 2021 at 11:42 | Report abuse | Reply
  17. 부산출장안마

    Way cool! Some extremely valid points! I appreciate you writing this write-up and also the rest of the website is extremely good.

    https://anotepad.com/notes/bq7ddafr

    June 10, 2021 at 12:11 | Report abuse | Reply
  18. 부산출장안마

    Itís difficult to find educated people on this topic, but you sound like you know what youíre talking about! Thanks

    https://www.openlearning.com/u/airspot36/blog/WhyYouShouldTrySwedishMassageTherapy

    June 10, 2021 at 15:02 | Report abuse | Reply
  19. Val Otley

    I wanted to thank you for this very good read!! I certainly loved every little bit of it. I have got you bookmarked to check out new stuff you postÖ

    https://edwinh69l7.prublogger.com/4383320/significance-of-appointed-day-helpful-date-in-restructuring

    June 10, 2021 at 17:22 | Report abuse | Reply
  20. rv repair shop

    I'm very happy to find this web site. I want to to thank you for your time due to this wonderful read!! I definitely loved every little bit of it and i also have you saved to fav to check out new stuff in your web site.

    http://www.dorsten.de/Externer_Link.asp?ziel=www.interiordesignpicts.blogspot.com/2020/08/small-rv-bathroom-remodel.html

    June 10, 2021 at 19:22 | Report abuse | Reply
  21. Maxwell Crouse

    Having read this I believed it was very enlightening. I appreciate you taking the time and effort to put this short article together. I once again find myself spending way too much time both reading and posting comments. But so what, it was still worthwhile!

    http://images.google.be/url?q=http://holdenh18a7.blognody.com/4086937/the-ultimate-guide-to-commercial-truck-repair

    June 10, 2021 at 20:16 | Report abuse | Reply
  22. Lucien Fleek

    http://help.dedecms.com/plus/player/index.php?url=https://johnathanh28c8.blog5star.com/4888944/getting-my-repair-shop-to-work

    June 10, 2021 at 21:01 | Report abuse | Reply
  23. Taylor Olenick

    Hello there! This blog post could not be written much better! Reading through this article reminds me of my previous roommate! He constantly kept talking about this. I most certainly will forward this information to him. Pretty sure he's going to have a very good read. Thanks for sharing!

    June 10, 2021 at 21:01 | Report abuse | Reply
  24. Malik Sodhi

    This is a topic that's close to my heart... Best wishes! Where are your contact details though?

    https://lukass52i0.gynoblog.com/4098442/rv-body-shop-for-dummies

    June 11, 2021 at 00:46 | Report abuse | Reply
  25. 울산 출장

    Hi, I do believe this is an excellent web site. I stumbledupon it 😉 I may revisit yet again since i have book marked it. Money and freedom is the best way to change, may you be rich and continue to help other people.

    http://bezvoprosa.ru/index.php?qa=user&qa_1=roadracing5

    June 11, 2021 at 04:19 | Report abuse | Reply
  26. rv repair service near me

    https://www.google.bt/url?q=http://neanarchist.net/event/how-choose-best-luxury-rv-collision-shop-company/

    June 11, 2021 at 04:45 | Report abuse | Reply
  27. Jerrell Gajeski

    Hi! I just wish to offer you a huge thumbs up for your great info you have got here on this post. I am coming back to your website for more soon.

    https://www.treasury.gov/cgi-bin/redirect.cgi/?https://www.franciscoh69m8.oblogation.com/4058048/rv-repair-companies-options

    June 11, 2021 at 06:51 | Report abuse | Reply
  28. 울산출장안마

    I really like it when individuals get together and share opinions. Great blog, continue the good work!

    https://game-cotuong.com/forum/profile.php?section=personality&id=1055998

    June 11, 2021 at 07:30 | Report abuse | Reply
  29. Elroy Rosenbeck

    I blog frequently and I truly appreciate your content. This great article has really peaked my interest. I am going to take a note of your website and keep checking for new details about once a week. I opted in for your Feed too.

    June 11, 2021 at 07:52 | Report abuse | Reply
  30. Renee Irr

    http://franciscoq52l2.blogzet.com/an-unbiased-view-of-your-van-repair-shop-orange-county-15306625

    June 11, 2021 at 08:06 | Report abuse | Reply
  31. 울산출장안마

    Very good information. Lucky me I ran across your website by accident (stumbleupon). I have saved it for later!

    https://www.captainco.net/forums/user/e1ygbvh726/

    June 11, 2021 at 10:05 | Report abuse | Reply
  32. pantry near me

    food

    June 11, 2021 at 14:38 | Report abuse | Reply
  33. index of xvideos

    Next time I read a blog, I hope that it doesn't disappoint me just as much as this one. I mean, Yes, it was my choice to read, nonetheless I genuinely believed you would have something helpful to talk about. All I hear is a bunch of complaining about something you can fix if you were not too busy seeking attention.

    http://www.guru-pon.jp/search/rank.cgi?mode=link&id=107&url=https://www.ocrv.org/

    June 11, 2021 at 14:44 | Report abuse | Reply
  34. RV Body Shop Los Angeles

    Very good article. I'm experiencing some of these issues as well..

    https://profitquery.com/share/?url=http://rvcollisionrepairpaintshop.com

    June 11, 2021 at 18:35 | Report abuse | Reply
  35. Restoration Shop Near Me

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

    June 11, 2021 at 18:35 | Report abuse | Reply
  36. Mercedes Sprinter Diesel Service Near Me

    Good site you have got here.. Itís difficult to find excellent writing like yours these days. I truly appreciate individuals like you! Take care!!

    http://mb.wendise.com/tools/thumbs.php?tds=3&trs=1&pid=videos&tid=bpgfr&pad=4px&cat=0&ts=156×117&tb=0px&tbc=FFFFFF&fs=12px&ff=Verdana&su=td&sl=ttm&tg=n&url=https://fleetvehiclerepairshop.com/

    June 11, 2021 at 18:38 | Report abuse | Reply
  37. Mercedes Benz Sprinter Repair Shop

    http://m.taijiyu.net/chongzhi.aspx?return=http://campervanrepairshop.com

    June 11, 2021 at 20:42 | Report abuse | Reply
  38. rv upholstery near me

    http://www.cellaccessories.com/__media__/js/netsoltrademark.php?d=ocrvpaintandservice.com/

    June 11, 2021 at 22:02 | Report abuse | Reply
  39. 먹튀 검증

    This blog was... how do I say it? Relevant!! Finally I've found something which helped me. Kudos!

    https://squareblogs.net/crowsleep52/blackjack-a-good-card-game

    June 12, 2021 at 02:50 | Report abuse | Reply
  40. rv restoration

    Hi! I simply would like to offer you a huge thumbs up for your excellent information you have right here on this post. I will be coming back to your website for more soon.

    http://p1-uranai.com/rank.cgi?mode=link&id=538&url=ocrvparts.com/

    June 12, 2021 at 05:37 | Report abuse | Reply
  41. RV Washing Los Angeles

    https://www.ajcampos.org/web/intranet/actualitat-a-campos/-/asset_publisher/M6mI/content/informacio-d-interes-de-la-revisio-de-gas-buta-facilitada-per-la-policia-local?redirect=http://www.ocrv.pro/

    June 12, 2021 at 05:40 | Report abuse | Reply
  42. Rv Upgrades Shop

    This blog was... how do I say it? Relevant!! Finally I have found something which helped me. Thanks!

    https://creativecommons.org/choose/results-one?field_attribute_to_url=https://fleetautorepairshop.com/

    June 12, 2021 at 05:40 | Report abuse | Reply
  43. Mercedes Benz Dealer Service Sprinter Near Me 91605

    http://vocce-gourmet.com/modules/wordpress0/wp-ktai.php?view=redir&url=https://fleetrepairshops.com/

    June 12, 2021 at 06:16 | Report abuse | Reply
  44. RV Repair Near Here

    Everything is very open with a clear description of the challenges. It was truly informative. Your website is extremely helpful. Thanks for sharing!

    http://academyartuniversityfaculty.biz/__media__/js/netsoltrademark.php?d=campervanrepairshop.com

    June 12, 2021 at 06:31 | Report abuse | Reply
  45. Cyrus Wadel

    This would be the proper blog for anybody who wishes to learn about this topic. You know so much its almost challenging to argue along (not too I just would want…HaHa). You definitely put a whole new spin for a topic thats been revealed for several years. Wonderful stuff, just wonderful!

    http://whoy.beginnersstop.com/story/a-lot-of-people-diet-to-lose-weight-these-days-a-lot-of-people-diet-to-lose/

    June 12, 2021 at 08:24 | Report abuse | Reply
  46. Jed Jahoda

    Hello there! I could have sworn Iíve visited this site before but after browsing through some of the articles I realized itís new to me. Nonetheless, Iím definitely happy I found it and Iíll be book-marking it and checking back regularly!

    http://deani69l7.tribunablog.com/5-easy-facts-about-digital-marketing-course-described-15026143

    June 12, 2021 at 13:25 | Report abuse | Reply
  47. Dione Vanauker

    https://tieba.baidu.com/mo/q/checkurl?url=https://gunnera36e5.designertoblog.com/31019910/the-5-second-trick-for-internet-marketing-consultant

    June 12, 2021 at 13:40 | Report abuse | Reply
  48. 양산출장안마

    That is a good tip especially to those fresh to the blogosphere. Short but very accurate informationÖ Appreciate your sharing this one. A must read post!

    https://telegra.ph/Worldwide-Aquatic-Bodywork-Benefits-of-Warming-Up–Relaxing-Down-04-25-3

    June 12, 2021 at 13:46 | Report abuse | Reply
  49. 인천출장안마

    Having read this I thought it was rather informative. I appreciate you finding the time and energy to put this short article together. I once again find myself personally spending a lot of time both reading and commenting. But so what, it was still worthwhile!

    http://igrice-igre.biz/profile/1743011/adultthomas5.htm

    June 12, 2021 at 14:26 | Report abuse | Reply
  50. halloween stores near me

    http://nelliecravens.com/__media__/js/netsoltrademark.php?d=hootnholler.net/

    June 12, 2021 at 15:14 | 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 Taylor Olenick


 

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.