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. SEO Marketing Firm

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


    May 24, 2021 at 22:59 | Report abuse | Reply
  2. Used Forklift Dealer California


    May 25, 2021 at 00:00 | Report abuse | Reply
  3. Digital Marketing Near Me


    May 25, 2021 at 00:01 | Report abuse | Reply
  4. Digital Marketing Service

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


    May 25, 2021 at 01:04 | Report abuse | Reply
  5. Tembepteriope

    buy tadalis tadalafil liquid cheapest tadalafil cost tadalafil blood pressure [url=https://tadagatadalafil.com/ ]lowest price cialis [/url]

    May 25, 2021 at 01:21 | Report abuse | Reply
  6. Forklift Service California


    May 25, 2021 at 01:51 | Report abuse | Reply
  7. Forklift Rental Near Me


    May 25, 2021 at 05:22 | Report abuse | Reply
  8. Social Media Marketing Business

    I’m impressed, I must say. Seldom do I encounter a blog that’s equally educative and engaging, and let me tell you, you have hit the nail on the head. The issue is something which not enough folks are speaking intelligently about. I am very happy that I stumbled across this during my search for something relating to this.


    May 25, 2021 at 06:23 | Report abuse | Reply
  9. Digital Marketing Firm

    Saved as a favorite, I really like your web site!


    May 25, 2021 at 07:15 | Report abuse | Reply
  10. tausAffessy

    https://tadacipetadalafil.com/ tadalafil cost in canada https://tadalafilol.com/ – cialis without a prescription generic tadalafil from uk

    May 25, 2021 at 07:28 | Report abuse | Reply
  11. 출장 마사지

    Your style is very unique in comparison to other folks I have read stuff from. Many thanks for posting when you've got the opportunity, Guess I'll just book mark this site.


    May 25, 2021 at 07:55 | Report abuse | Reply
  12. Social Media Marketing Agencies Near Me


    May 25, 2021 at 10:22 | Report abuse | Reply
  13. Video Marketing Near Me


    May 25, 2021 at 10:37 | Report abuse | Reply
  14. Social Media Marketing Firm


    May 25, 2021 at 11:56 | Report abuse | Reply
  15. Local Marketing Company


    May 25, 2021 at 12:03 | Report abuse | Reply
  16. SEO Marketing Companies


    May 25, 2021 at 12:12 | Report abuse | Reply
  17. Google Marketing Experts


    May 25, 2021 at 12:38 | Report abuse | Reply
  18. Digital Marketing Specialists

    After I initially left a comment I appear to have clicked on the -Notify me when new comments are added- checkbox and now each time a comment is added I get four emails with the same comment. There has to be a way you are able to remove me from that service? Thanks!


    May 25, 2021 at 14:37 | Report abuse | Reply
  19. 출장 안마

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


    May 25, 2021 at 15:41 | Report abuse | Reply
  20. Local Marketing Company


    May 25, 2021 at 16:09 | Report abuse | Reply
  21. Unitmerienepeft

    https://tadagatadalafil.com/ cheap cialis pills for sale https://tadalafilol.com/ – buy tadalis lowest price cialis

    May 25, 2021 at 17:06 | Report abuse | Reply
  22. rv interior repair

    This is a topic that's near to my heart... Cheers! Exactly where are your contact details though?


    May 26, 2021 at 00:18 | Report abuse | Reply
  23. box truck repair panels


    May 26, 2021 at 00:31 | Report abuse | Reply
  24. Soosteemocush

    cialis at canadian pharmacy buy tadalis tadalafil online https://tadagatadalafil.com/

    May 26, 2021 at 01:22 | Report abuse | Reply
  25. rv window replacement near me

    Hi, I believe your web site might be having web browser compatibility issues. Whenever I take a look at your website in Safari, it looks fine however when opening in IE, it's got some overlapping issues. I merely wanted to give you a quick heads up! Other than that, fantastic blog!


    May 26, 2021 at 01:52 | Report abuse | Reply
  26. RV Beds Orange County

    After checking out a handful of the blog posts on your web site, I honestly appreciate your way of writing a blog. I added it to my bookmark webpage list and will be checking back soon. Please visit my web site as well and tell me your opinion.


    May 26, 2021 at 02:06 | Report abuse | Reply
  27. geico near me

    I love reading a post that will make men and women think. Also, thanks for allowing for me to comment!

    http://bw.irr.by/knock.php?bid=252583&link=https://imbarcazionicolla.com/index.php/it/component/k2/item/14-ma rk-anthony?start=613070

    May 26, 2021 at 02:07 | Report abuse | Reply
  28. Tembepteriope

    cialis cost https://tadacipetadalafil.com/ – tadalafil price walmart best price usa tadalafil cialis at canadian pharmacy https://tadalafilww.com/

    May 26, 2021 at 03:41 | Report abuse | Reply
  29. RV Toilets Orange County

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


    May 26, 2021 at 05:05 | Report abuse | Reply
  30. 출장안마

    Hi there! This blog post couldnít be written much better! Looking at this post reminds me of my previous roommate! He constantly kept talking about this. I most certainly will forward this post to him. Pretty sure he's going to have a very good read. Thank you for sharing!


    May 26, 2021 at 05:07 | Report abuse | Reply
  31. truck shop of orange

    An intriguing discussion is definitely worth comment. I do think that you ought to publish more on this topic, it might not be a taboo subject but typically people don't talk about these issues. To the next! Kind regards!!


    May 26, 2021 at 05:55 | Report abuse | Reply
  32. RV Countertops Orange County


    May 26, 2021 at 07:21 | Report abuse | Reply
  33. RV Technician Orange County

    After checking out a few of the blog articles on your web site, I seriously appreciate your way of writing a blog. I book marked it to my bookmark site list and will be checking back in the near future. Please visit my website as well and let me know what you think.


    May 26, 2021 at 07:45 | Report abuse | Reply
  34. RV Repair Near Me

    I quite like looking through an article that can make people think. Also, many thanks for permitting me to comment!


    May 26, 2021 at 09:03 | Report abuse | Reply
  35. 출장 안마

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


    May 26, 2021 at 09:35 | Report abuse | Reply
  36. 출장 마사지

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


    May 26, 2021 at 13:17 | Report abuse | Reply
  37. upholstery places near me

    Oh my goodness! Incredible article dude! Many thanks, However I am experiencing difficulties with your RSS. I don’t understand the reason why I am unable to subscribe to it. Is there anybody else getting the same RSS issues? Anybody who knows the answer can you kindly respond? Thanx!!


    May 26, 2021 at 13:41 | Report abuse | Reply
  38. Sprinter Climate Control Repair


    May 26, 2021 at 13:55 | Report abuse | Reply
  39. combigan

    combigan cost buy generic combigan

    May 26, 2021 at 14:45 | Report abuse | Reply
  40. Mercedes Benz Sprinter Rv Service Locations

    Can I simply just say what a relief to discover an individual who actually knows what they are talking about online. You actually realize how to bring a problem to light and make it important. More people really need to look at this and understand this side of the story. I was surprised that you're not more popular given that you surely possess the gift.


    May 26, 2021 at 15:18 | Report abuse | Reply
  41. Sprinter Side Door Repair


    May 26, 2021 at 15:25 | Report abuse | Reply
  42. prostar collision center


    May 26, 2021 at 15:35 | Report abuse | Reply
  43. RV Batteries Los Angeles

    Oh my goodness! Awesome article dude! Thank you, However I am encountering issues with your RSS. I don’t understand the reason why I am unable to join it. Is there anyone else having identical RSS issues? Anyone who knows the answer can you kindly respond? Thanx!!


    May 26, 2021 at 15:36 | Report abuse | Reply
  44. RV Interior Designer Near Me

    There's certainly a lot to learn about this topic. I love all the points you have made.


    May 26, 2021 at 18:41 | Report abuse | Reply
  45. tv mounting service orange county


    May 26, 2021 at 19:16 | Report abuse | Reply
  46. 출장마사지

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


    May 26, 2021 at 20:04 | Report abuse | Reply
  47. RV Leak Riverside


    May 26, 2021 at 21:10 | Report abuse | Reply
  48. Soosteemocush

    tadalafil without a doctor prescription tadalafil without a doctor prescription buy tadalis https://cttadalafil.com/

    May 26, 2021 at 22:00 | Report abuse | Reply
  49. RV Generator California

    A fascinating discussion is worth comment. I believe that you should publish more about this subject, it may not be a taboo subject but typically people do not speak about such issues. To the next! All the best!!


    May 26, 2021 at 22:47 | Report abuse | Reply
  50. Cortez Vainio

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


    May 27, 2021 at 01:45 | 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 파워볼 사이트


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.