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 (1,139 Responses)
  1. Maserati For Sale Near Bristol Va

    I’m impressed, I have to admit. Seldom do I come across a blog that’s equally educative and engaging, and let me tell you, you've hit the nail on the head. The issue is something not enough people are speaking intelligently about. I am very happy I stumbled across this during my hunt for something relating to this.

    https://www.pavillionbank.biz/__media__/js/netsoltrademark.php?d=club-maserati.com

    May 16, 2021 at 21:42 | Report abuse | Reply
  2. 먹튀검증사이트

    I must thank you for the efforts you have put in penning this website. I'm hoping to view the same high-grade content from you later on as well. In fact, your creative writing abilities has motivated me to get my very own website now 😉

    https://gambling7marginicon21.mystrikingly.com/blog/poker-charleys

    May 17, 2021 at 03:27 | Report abuse | Reply
  3. Repair My 2006 Dodge Sprinter 3500 Rv

    Wonderful post! We are linking to this particularly great post on our website. Keep up the great writing.

    http://www.rentv.com/phpAds/adclick.php?bannerid=116&zoneid=316&source=&dest=https://fleetrepairshops.com/sprinter-van-upgrades-shop-near-me

    May 17, 2021 at 03:28 | Report abuse | Reply
  4. Los Angeles Sprinter Repair

    Good article! We will be linking to this particularly great content on our website. Keep up the great writing.

    http://openforbusinessmagazine01.businesscatalyst.com/Redirect.aspx?destination=https://ocrvfleetservices.com/box-truck-repair-shop-near-me-3

    May 17, 2021 at 05:34 | Report abuse | Reply
  5. Bbw Maserati

    http://www.netivotshalom.net/track.php?id=ab39ec6d5d0e47f89c84047a1cb5f163&color=b3b3b5&url=http3A2F2Fmaseratiforum.net

    May 17, 2021 at 05:59 | Report abuse | Reply
  6. Mercedes Winnebago Sprinter Repair

    https://www.bbs.tut-obmen.ru/redirect/?g=https://www.boxtruckrepairshop.com/box-truck-repair-shop-near-me/

    May 17, 2021 at 08:08 | Report abuse | Reply
  7. Maserati Price

    http://pamragland.com/LinkClick.aspx?link=https://maseratiforum.net

    May 17, 2021 at 10:31 | Report abuse | Reply
  8. 2006 Mercades Sprinter 2500 Turbo Actuator Repair

    https://www.eastdesign.net/redirect/?url=www.commercialvanrepairshop.com/semi-truck-alignment-shop-near-me/

    May 17, 2021 at 10:45 | Report abuse | Reply
  9. Frightliner Sprinter Repair Shop

    http://www.oltv.cz/redirect.php?url=http://www.commercialrepairshop.com/chevrolet-cargo-van-repair-shop-near-me

    May 17, 2021 at 10:58 | Report abuse | Reply
  10. Repair Conversion Van Blinds

    This is a topic that is near to my heart... Take care! Where are your contact details though?

    https://hr.bjx.com.cn/go.aspx?u=http://boxtruckrepairshop.com/sprinter-van-collision-repair-shop-near-me

    May 17, 2021 at 11:10 | Report abuse | Reply
  11. Mercedes Sprinter Service Center Near Me

    https://analytics.bluekai.com/site/16231?phint=event=click&phint=campaign=BRAND-TAB&phint=platform=search&done=http://fleetservicerepairshop.com/sprinter-van-upgrades-shop-near-me

    May 17, 2021 at 12:08 | Report abuse | Reply
  12. 먹튀검증

    After checking out a number of the blog posts on your web page, I really like your way of writing a blog. I book marked it to my bookmark website list and will be checking back soon. Take a look at my web site too and let me know how you feel.

    https://zzb.bz/rKi9h

    May 17, 2021 at 16:35 | Report abuse | Reply
  13. Maserati Ghibli S Q4Lease Near Me

    I must thank you for the efforts you've put in writing this website. I'm hoping to see the same high-grade content by you in the future as well. In truth, your creative writing abilities has motivated me to get my very own site now 😉

    https://www.dailygood.org/more.php?op=get&url=https://maseratis.net/

    May 17, 2021 at 19:25 | Report abuse | Reply
  14. 메이저사이트

    I couldnít resist commenting. Perfectly written!

    https://helpus.ai/forum/index.php?action=profile;area=forumprofile;u=487693

    May 17, 2021 at 20:08 | Report abuse | Reply
  15. custom rv painting

    https://www.audio-iwasaki.com/ys4/rank.cgi?mode=link&id=1551&url=https://ocrvcenter.com/

    May 17, 2021 at 23:58 | Report abuse | Reply
  16. 사설토토

    I'd like to thank you for the efforts you have put in writing this website. I'm hoping to view the same high-grade content from you in the future as well. In truth, your creative writing abilities has motivated me to get my own website now 😉

    http://dominickfvgc735.almoheet-travel.com/when-professionals-run-into-problems-with-totosaiteu-this-is-what-they-do

    May 18, 2021 at 00:29 | Report abuse | Reply
  17. tv repair temecula

    http://biology.africamuseum.be/BiocaseProvider_2.4.2/www/utilities/queryforms/qf_manual.cgi?url=https://ocrvcenter.com/

    May 18, 2021 at 04:03 | Report abuse | Reply
  18. 먹튀검증

    Aw, this was a really nice post. Spending some time and actual effort to make a great articleÖ but what can I sayÖ I procrastinate a whole lot and never seem to get anything done.

    http://sc.sie.gov.hk/TuniS/casino2polandash70.over-blog.com/2021/03/an-introduction-to-casino-security.html

    May 18, 2021 at 04:56 | Report abuse | Reply
  19. financial membership

    http://testphp.vulnweb.com/redir.php?r=https://menmastermind.com/

    May 18, 2021 at 18:27 | Report abuse | Reply
  20. Assisted Living

    Great blog you have here.. It’s difficult to find quality writing like yours nowadays. I honestly appreciate people like you! Take care!!

    http://disini.pw/track/link?to=http://assistedlivingseniorcarepalmdesert.com

    May 18, 2021 at 20:03 | Report abuse | Reply
  21. health training online

    http://etracker.de/lnkcnt.php?et=qPKGYV&url=http://menmastermind.com

    May 18, 2021 at 20:08 | Report abuse | Reply
  22. Forklift Repair

    Hi there! This blog post couldn’t be written any better! Looking through this article reminds me of my previous roommate! He continually kept talking about this. I am going to forward this article to him. Pretty sure he'll have a great read. Thanks for sharing!

    http://marianvarga.sk/scripts/redirect.php?wildwestlifttrucks.com

    May 18, 2021 at 21:01 | Report abuse | Reply
  23. Flat Roofing Contractors Near Me

    https://www.wdlinux.cn/url.php?url=https://sanmarinoroof.com/

    May 18, 2021 at 21:12 | Report abuse | Reply
  24. Forklift Parts Orange County

    Howdy! I just would like to give you a big thumbs up for your great info you've got right here on this post. I'll be coming back to your site for more soon.

    http://p4trc.emv2.com/DTS?url=https://wildwestlifttrucks.com/&emv_key=F9X7CqqshZGf8SA9MKJi8NUY54O102IMNfcStGb5lw8W0bBhOG5mpqVsje_HhdA0lliq

    May 18, 2021 at 21:46 | Report abuse | Reply
  25. Check out this great CBD Lube

    I love the way you have concluded this post ...

    https://philadelphiaweekly.com/10-best-cbd-lubes-to-buy-in-2021/

    May 18, 2021 at 22:38 | Report abuse | Reply
  26. Digital Marketing Help

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

    https://www.cdn.embedded.com/common/jumplink.php?target=https://internetmarketingmontana.com

    May 19, 2021 at 00:45 | Report abuse | Reply
  27. Opthamologist Nearby

    I truly love your blog.. Very nice colors & theme. Did you make this amazing site yourself? Please reply back as I’m looking to create my very own blog and would like to find out where you got this from or just what the theme is named. Thank you!

    http://wcbi411.wcbi.com/__media__/js/netsoltrademark.php?d=arizonasvision.com

    May 19, 2021 at 01:10 | Report abuse | Reply
  28. Internet Marketing Company California

    You need to be a part of a contest for one of the best sites on the web. I most certainly will highly recommend this site!

    http://ab-search.com/rank.cgi?mode=link&id=107&url=marketingpostfalls.com

    May 19, 2021 at 01:56 | Report abuse | Reply
  29. Video Marketing Companies California

    This is a topic that's near to my heart... Thank you! Where are your contact details though?

    http://www.sonce.net/redirect.php?url=https://postfallsbootcamp.com/

    May 19, 2021 at 02:17 | Report abuse | Reply
  30. Maserati Nyc

    Excellent article! We will be linking to this great post on our website. Keep up the great writing.

    https://nilaima.com/link.php?url=https://maseratis.net

    May 19, 2021 at 07:06 | Report abuse | Reply
  31. energy and focus pills

    Aw, this was an incredibly nice post. Taking the time and actual effort to create a superb article… but what can I say… I put things off a whole lot and never seem to get anything done.

    http://zhouyiworld.com/home/link.php?url=http://energygopep.com/

    May 19, 2021 at 07:56 | Report abuse | Reply
  32. Roof Repairs Near Me

    You need to be a part of a contest for one of the highest quality websites on the internet. I will recommend this site!

    http://php-api.engageya.com/oper/https_redirect.php?url=https://www.sanmarinoroof.com

    May 19, 2021 at 09:41 | Report abuse | Reply
  33. Jet Ski Rental Parker

    You've made some decent points there. I looked on the net for more information about the issue and found most individuals will go along with your views on this website.

    https://www.worldcruising.com/extern.aspx?ctype=1&adid=89&pagid=0&src=http://nevadapwcrentals.com/

    May 19, 2021 at 11:35 | Report abuse | Reply
  34. Pool Construction Services

    https://lcu.hlcommission.org/lcu/pages/auth/forgotPassword.aspx?Returnurl=https://paradisepoolandspa.org/

    May 19, 2021 at 12:23 | Report abuse | Reply
  35. orange county awnings

    /

    May 19, 2021 at 14:26 | Report abuse | Reply
  36. rv restoration parts

    http://www.capnordic.dk/redirect.asp?url=https://www.therestaurantsweb.com/board/board_topic/3906811/4973270.htm?page=3

    May 19, 2021 at 15:08 | Report abuse | Reply
  37. 먹튀사이트

    This site definitely has all the information and facts I needed concerning this subject and didnít know who to ask.

    http://team3556.com/HQ/index.php?action=profile;area=forumprofile;u=46264

    May 19, 2021 at 17:45 | Report abuse | Reply
  38. RV Roof Orange County

    http://momoantena.com/redirect?url=https://myallresult.com/bd/alim-exam-routine/

    May 19, 2021 at 19:51 | Report abuse | Reply
  39. Click Here to Find CBD Oil for Dogs

    Your way of addressin this topic is both remarkable and inspiring.

    https://www.sfgate.com/cannabis-paid/article/best-cbd-oil-for-dogs-15812674.php

    May 19, 2021 at 22:13 | Report abuse | Reply
  40. RV Inspection Orange County

    /

    May 19, 2021 at 23:01 | Report abuse | Reply
  41. Content Marketing Agencies

    Howdy! I just want to give you a huge thumbs up for the great information you've got here on this post. I will be returning to your website for more soon.

    https://blogranking.fc2.com/out.php?id=414788&url=https://meticulousjess.com/

    May 20, 2021 at 03:49 | Report abuse | Reply
  42. Internet Marketing Company

    http://www.qingms.com/link.php?url=https://wholesalenearme.com

    May 20, 2021 at 06:54 | Report abuse | Reply
  43. Content Marketing Consultant

    https://www.c-sharpcorner.com/AdRedirector.aspx?BannerId=744&target=https://internetmarketingoregon.com/

    May 20, 2021 at 10:59 | Report abuse | Reply
  44. 토토사이트

    You're so interesting! I don't believe I have read through anything like this before. So great to find another person with original thoughts on this issue. Really.. many thanks for starting this up. This website is one thing that's needed on the web, someone with a little originality!

    https://www.pcb.its.dot.gov/PageRedirect.aspx?redirectedurl=http://gigglyu.com/members/gambling9epoxyclover7/activity/60635/

    May 20, 2021 at 11:09 | Report abuse | Reply
  45. Digital Marketing Business

    I really love your blog.. Very nice colors & theme. Did you create this web site yourself? Please reply back as I’m attempting to create my very own blog and would like to learn where you got this from or exactly what the theme is named. Many thanks!

    http://www.fms.treas.gov/fmsweb/disclaimer.jsp?ciURL=http://www.bestservicenearme.com/

    May 20, 2021 at 11:23 | Report abuse | Reply
  46. SEO Marketing Companies

    I seriously love your website.. Great colors & theme. Did you develop this website yourself? Please reply back as I’m hoping to create my own blog and would love to find out where you got this from or exactly what the theme is named. Cheers!

    https://mobilize.org.br/handlers/anuncioshandler.aspx?anuncio=55&canal=2&redirect=https://marketingpostfalls.com

    May 20, 2021 at 12:07 | Report abuse | Reply
  47. 먹튀

    I like it when folks get together and share thoughts. Great site, stick with it!

    http://ssomgmt.ascd.org/profile/createsso/createsso.aspx?returnurl=https://penzu.com/p/8c16c0c4

    May 20, 2021 at 15:28 | Report abuse | Reply
  48. Conversion Van Interior Repair

    I like reading a post that will make people think. Also, many thanks for allowing me to comment!

    https://pipmag.agilecrm.com/click?u=http://fleetrepairshops.com/conversion-van-repair-shop-near-me

    May 20, 2021 at 15:33 | Report abuse | Reply
  49. mobile rv repair orange county ca

    http://testphp.vulnweb.com/redir.php?r=http://ocrvcenter.com/rv-couch-repair-near-me

    May 20, 2021 at 18:41 | Report abuse | Reply
  50. rv furniture companies

    After exploring a few of the blog articles on your blog, I really appreciate your way of writing a blog. I bookmarked it to my bookmark site list and will be checking back in the near future. Take a look at my website as well and tell me how you feel.

    http://services.accredia.it/engines/banner2/jump.jsp?idArea=234&idBanner=2&destination=https://ocrvcenter.com/commercial-truck-collision-repair-shop-near-me/&gTemplate=default.jsp

    May 20, 2021 at 22:48 | 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 Forklift Repair


 

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.