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 (1,135 Responses)
  1. 창원출장안마

    Hey there! I just would like to offer you a huge thumbs up for your excellent information you've got right here on this post. I'll be coming back to your blog for more soon.

    http://ezproxy.cityu.edu.hk/login?url=http://massage6merifinxyq.theglensecret.com/15-reasons-why-you-shouldn-t-ignore-chang-wonchuljangmasaji

    June 29, 2021 at 09:35 | Report abuse | Reply
  2. 먹튀검증

    This website definitely has all of the information I wanted about this subject and didnít know who to ask.

    https://www.blurb.com/user/warmsound5

    June 29, 2021 at 10:33 | Report abuse | Reply
  3. he said

    wonderful points altogether, you simply gained a new reader. What would you suggest about your post that you made some days ago? Any positive?

    https://knee.informationclip.com/

    June 29, 2021 at 10:43 | Report abuse | Reply
  4. 먹튀사이트

    Can I simply just say what a comfort to find somebody that really understands what they are talking about on the net. You actually realize how to bring a problem to light and make it important. More and more people need to look at this and understand this side of the story. I was surprised you aren't more popular because you most certainly have the gift.

    https://vimeo.com/cicadaslave84

    June 29, 2021 at 11:04 | Report abuse | Reply
  5. RV Repair Shop Near My Location

    Nice post. I learn something new and challenging on sites I stumbleupon everyday. It's always exciting to read articles from other writers and practice something from other sites.

    http://www.netfaqs.com/linux/Mail/Net7/New/index.asp?bisp=www.www.ocrvexperts.com

    June 29, 2021 at 11:37 | Report abuse | Reply
  6. Freightliner Sprinter Repair Near Me

    http://yellowpages.mymotherlode.com/__media__/js/netsoltrademark.php?d=ocrv.club

    June 29, 2021 at 14:09 | Report abuse | Reply
  7. Camper Repair Places Near Me

    Hello there! I just would like to give you a huge thumbs up for the excellent info you have got right here on this post. I'll be coming back to your website for more soon.

    http://9et.cn/kaixin/link.php?url=https://ocrvcenter.com/

    June 29, 2021 at 15:01 | Report abuse | Reply
  8. Camper Repair Places Near Me

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

    http://tigelclub.ru/go.php?go=https://ocrvcenter.com/

    June 29, 2021 at 15:13 | Report abuse | Reply
  9. Camper Repairs Near Me

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

    http://nangluongvietnam.vn/apiservice.html?service=device_switcher&mobile=yes&back_state_url=http://orangecountyrvrepair.com/

    June 29, 2021 at 16:59 | Report abuse | Reply
  10. RV Repair Orange County

    http://adult-sex-games.com/cgi-bin/a2/out.cgi?id=203&c=0&u=http://ocrv.life

    June 29, 2021 at 17:11 | Report abuse | Reply
  11. 먹튀검증

    Oh my goodness! Incredible article dude! Many thanks, However I am encountering difficulties with your RSS. I donít know why I am unable to join it. Is there anybody else having the same RSS issues? Anyone who knows the answer will you kindly respond? Thanks!!

    https://zenwriting.net/baccarat0silknylon6/greatest-card-protectors-choosing-the-appropriate-card-games-to-play

    June 29, 2021 at 18:42 | Report abuse | Reply
  12. 먹튀검증업체

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

    https://lookbook.nu/user/9369540-Jokumsen

    June 29, 2021 at 19:16 | Report abuse | Reply
  13. Sprinter Repair Shops Near Me

    http://www.rvnetlinx.com/wpframetop.php?id=2063&url=ocrv.store/

    June 29, 2021 at 21:12 | Report abuse | Reply
  14. RV Repairs Nearby

    http://shop-rank.com/01-09/rl_out.cgi?id=atorie&url=https://ocrvandtrucks.com/

    June 29, 2021 at 23:05 | Report abuse | Reply
  15. 먹튀검증

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

    https://stackoverflow.com/users/story/16279335

    June 30, 2021 at 01:47 | Report abuse | Reply
  16. 먹튀검증

    After exploring a handful of the articles on your website, I seriously appreciate your technique of blogging. I book marked it to my bookmark site list and will be checking back in the near future. Take a look at my web site too and let me know your opinion.

    http://xn--3-8sblf7a0afi.xn--p1ai/index.php?option=com_k2&view=itemlist&task=user&id=363460

    June 30, 2021 at 04:16 | Report abuse | Reply
  17. 포항출장안마

    Good post. I'm dealing with some of these issues as well..

    http://www.newsdiffs.org/article-history/?url=https://k-anma.com/pohang/

    June 30, 2021 at 04:58 | Report abuse | Reply
  18. Sprinter Repair Los Angeles

    http://localbusiness.petaluma360.com/__media__/js/netsoltrademark.php?d=campervanrepairshop.com/

    June 30, 2021 at 06:40 | Report abuse | Reply
  19. Camper Repair Shop Near Me

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

    https://sc.hkexnews.hk/TuniS/theocrv.com/

    June 30, 2021 at 07:14 | Report abuse | Reply
  20. Mercedes Sprinter Van Repair Near Me

    I love it when individuals come together and share thoughts. Great website, keep it up!

    http://cssdrive.com/?URL=fleettruckrepairshop.com/

    June 30, 2021 at 07:29 | Report abuse | Reply
  21. 먹튀검증

    I was able to find good info from your blog articles.

    http://www.czporadna.cz/index.php?qa=user&qa_1=clavesound5

    June 30, 2021 at 07:56 | Report abuse | Reply
  22. 구미출장마사지

    You should take part in a contest for one of the most useful blogs on the net. I most certainly will highly recommend this blog!

    https://tradecollar1.bladejournal.com/post/2021/04/29/Techniques-to-Assist-You-Achieve-Comfortable-Healing

    June 30, 2021 at 09:02 | Report abuse | Reply
  23. Airport Van Repair

    This is a topic which is near to my heart... Best wishes! Where are your contact details though?

    http://www3.bigcosmic.com/board/s/board.cgi?id=tetsujin&mode=damy&moveurl=http://commercialrepairshop.com

    June 30, 2021 at 09:18 | Report abuse | Reply
  24. Sprinter Repair Orange County

    https://lnfcu.com/helpers/choice.asp?h=http://www.ocrv.guru/

    June 30, 2021 at 09:51 | Report abuse | Reply
  25. 경주출장마사지

    After exploring a number of the articles on your website, I honestly appreciate your way of writing a blog. I bookmarked it to my bookmark webpage list and will be checking back in the near future. Please visit my web site as well and let me know how you feel.

    https://squareblogs.net/zonecancer14/online-massage-therapy-schools-offer-therapeutic-massage-apps-that-prepares

    June 30, 2021 at 10:03 | Report abuse | Reply
  26. 먹튀검증커뮤니티

    bookmarked!!, I really like your web site!

    http://www.feedbooks.com/user/7601769/profile

    June 30, 2021 at 10:49 | 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 RV Repairs Near My Location


 

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.